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Scientific News

FARA funds research progress

In this section, you will find the most recent FA research publications, many of which are funded by FARA, as well as information on upcoming conferences and symposiums. You can search for articles by date using the archive box in the right hand column. To locate FARA Funded or Supported Research, click the hyperlink in the right hand column. You may also search for specific content using key words or phrases in the search button at the top right of your screen. Please be sure to visit other key research sections of our website for information on FARA's Grant Program and the Treatment Pipeline.


Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia

Details
Category: Scientific News
Written: Tuesday, January 28, 2014

Friedreich ataxia (FRDA) is a devastating neurodegenerative disease caused by mutations in the frataxin gene (FXN). Frataxin is an essential protein which localizes to the mitochondria and is required for the synthesis of iron-sulfur clusters and heme. Most individuals with FRDA are homozygous for trinucleotide

Read More: Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia

Frataxin-bypassing Isu1: characterization of the bypass activity in cells and mitochondria

Details
Category: Scientific News
Written: Tuesday, January 28, 2014

Frataxin is a conserved mitochondrial protein, and deficiency underlies the neurodegenerative disease Friedreich's ataxia. Frataxin interacts with the core machinery for Fe-S cluster assembly in mitochondria. Recently we reported that in frataxin-deleted yeast strains, a spontaneously occurring mutation in one of two genes encoding redundant Isu scaffold proteins, bypassed the mutant phenotypes.

Read More: Frataxin-bypassing Isu1: characterization of the bypass activity in cells and mitochondria

The kinetics of folding of frataxin

Details
Category: Scientific News
Written: Tuesday, January 28, 2014

The role of the denatured state in protein folding represents a key issue for the proper evaluation of folding kinetics and mechanisms. The yeast ortholog of the human frataxin, a mitochondrial protein essential for iron homeostasis and responsible for Friedreich's ataxia, has been shown to undergo cold denaturation above 0 °C, in the absence of chemical denaturants.

Read More: The kinetics of folding of frataxin

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia

Details
Category: Scientific News
Written: Wednesday, January 8, 2014

BACKGROUND:

Friedreich ataxia (FRDA) generally results from reduced frataxin, a mitochondrial protein involved in iron metabolism. We assessed whether HFE p.C282Y and/or p.H63D heterozygosity modifies age at disease onset or disease severity in individuals with FRDA.

Read More: HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia

Dysphagia and swallowing-related quality of life in Friedreich ataxia

Details
Category: Scientific News
Written: Wednesday, January 8, 2014

Dysphagia in Friedreich ataxia (FRDA) and its impact on quality of life is not adequately understood. The objective of this study was to characterise dysphagia in FRDA and to determine the impact of swallowing dysfunction on activities, participation, and sense of well-being.

Read More: Dysphagia and swallowing-related quality of life in Friedreich ataxia

  1. Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells
  2. Apoptotic cell death and altered calcium homeostasis caused by frataxin depletion in dorsal root ganglia neurons can be prevented by BH4 domain of Bcl-xL protein
  3. Frataxin directly stimulates mitochondrial cysteine desulfurase by exposing substrate-binding sites
  4. Frataxin mRNA Isoforms in FRDA Patients and Normal Subjects: Effect of Tocotrienol Supplementation
  5. Methylene blue rescues heart defects in a Drosophila model of Friedreich's ataxia

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Scientific News Archives

Nov 16, 2023 Scientific News

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Oct 02, 2023 Funded Research

Rationale and protocol of a double-blind, randomized, placebo-controlled trial to test the efficacy, safety, and tolerability of dimethyl fumarate in Friedreich Ataxia (DMF-FA-201)

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Oct 02, 2023 Funded Research

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Sep 26, 2023 Funded Research

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Sep 26, 2023 Funded Research

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This paper describes the development of… More
Sep 26, 2023 Funded Research

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Sep 26, 2023 Scientific News

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Sep 26, 2023 Scientific News

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Sep 26, 2023 Scientific News

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Sep 05, 2023 Funded Research

Friedreich's Ataxia-Health Index: Development and Validation of a Novel Disease-Specific Patient-Reported Outcome Measure

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Sep 05, 2023 Scientific News

How great a risk do you take? A qualitative study exploring attitudes of individuals with Friedreich ataxia towards gene therapy

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Sep 05, 2023 Scientific News

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Sep 05, 2023 Scientific News

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Sep 05, 2023 Scientific News

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Aug 31, 2023 Scientific News

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Aug 30, 2023 Scientific News

Trinucleotide Repeat Disorders

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Aug 30, 2023 Scientific News

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Aug 30, 2023 Scientific News

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Aug 17, 2023 Scientific News

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Aug 07, 2023 Scientific News

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Jul 27, 2023 Funded Research

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Jul 27, 2023 Scientific News

Quantification of human mature frataxin protein expression in nonhuman primate hearts after gene therapy

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Jul 27, 2023 Scientific News

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Jul 10, 2023 Scientific News

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Jul 10, 2023 Scientific News

Multiway sparse distance weighted discrimination

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Jun 28, 2023 Scientific News

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Jun 28, 2023 Scientific News

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Jun 28, 2023 Scientific News

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Jun 28, 2023 Funded Research

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Jun 28, 2023 Funded Research

Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia

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Jun 28, 2023 Funded Research

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Jun 07, 2023 Scientific News

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Jun 07, 2023 Funded Research

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May 31, 2023 Scientific News

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May 31, 2023 Scientific News

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May 31, 2023 Funded Research

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May 09, 2023 Scientific News

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May 09, 2023 Scientific News

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May 09, 2023 Scientific News

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May 09, 2023 Scientific News

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May 09, 2023 Scientific News

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May 09, 2023 Scientific News

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Apr 28, 2023 Scientific News

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Apr 10, 2023 Funded Research

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Apr 04, 2023 Scientific News

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Mar 20, 2023 Funded Research

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Mar 20, 2023 Scientific News

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Mar 20, 2023 Scientific News

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Mar 09, 2023 Scientific News

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Mar 06, 2023 Scientific News

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Mar 03, 2023 Funded Research

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Mar 03, 2023 Funded Research

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Mar 03, 2023 Scientific News

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Feb 28, 2023 Scientific News

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Feb 23, 2023 Scientific News

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Feb 22, 2023 Funded Research

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Feb 22, 2023 Scientific News

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Feb 16, 2023 Funded Research

A new FRDA mouse model [Fxn null:YG8s(GAA) > 800] with more than 800 GAA repeats

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Feb 16, 2023 Funded Research

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Feb 16, 2023 Scientific News

Removal of the GAA repeat in the heart of a Friedreich's ataxia mouse model using CjCas9

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Feb 16, 2023 Scientific News

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Feb 09, 2023 Funded Research

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Feb 03, 2023 Scientific News

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Feb 03, 2023 Scientific News

Omaveloxolone: An activator of Nrf2 for the treatment of Friedreich's ataxia

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Jan 26, 2023 Scientific News

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Jan 26, 2023 Scientific News

A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxia

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Jan 19, 2023 Funded Research

Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin

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Jan 19, 2023 Funded Research

FXN gene methylation determines carrier status in Friedreich ataxia

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Cardiovascular Research in Friedreich Ataxia: Unmet Needs and Opportunities

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Retinal and Visual Pathways Involvement in Carriers of Friedreich's Ataxia

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Dec 22, 2022 Funded Research

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Dec 22, 2022 Scientific News

Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES)

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Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

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Dec 22, 2022 Scientific News

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14

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Dec 22, 2022 Scientific News

Overall Role of Contactins Expression in Neurodevelopmental Events and Contribution to Neurological Disorders

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Dec 13, 2022 Scientific News

The mutational dynamics of short tandem repeats in large, multigenerational families

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Systemic administration of novel engineered AAV capsids facilitates enhanced transgene expression in the macaque CNS

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Design Therapeutics Reports Positive Data from Single-Ascending Dose Trial of DT-216 for the Treatment of Friedreich Ataxia and Portfolio Progress

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Dec 05, 2022 Scientific News

Scientists Receive $4.8M to Pursue Gene Therapy for ‘Incurable’ Disease

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Dec 05, 2022 Scientific News

Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia

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Nov 30, 2022 Funded Research

A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol

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Nov 30, 2022 Funded Research

Patient-Reported Impact of Symptoms in Friedreich Ataxia

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Nov 30, 2022 Scientific News

Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension

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Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers

Optic neuropathy is a near ubiquitous… More
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Personal factors understood through the Ecological-Enactive Model of Disability and implications for rehabilitation research

The International Classification of… More
Nov 21, 2022 Funded Research

Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS

Rummey C, Harding IH, Delatycki MB, Tai… More
Nov 21, 2022 Scientific News

Cobalt chloride has beneficial effects across species through a hormetic mechanism

Schiavi A, Runci A, Maiorino T, Naso… More
Nov 16, 2022 Funded Research

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

Individuals with Friedreich ataxia… More
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Phenotype and management of neurologic intronic repeat disorders (NIRDs)

During recent years an increasing… More
Nov 16, 2022 Scientific News

Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC-neurons and cardiomyocytes

Several functions of frataxin have been… More
Nov 16, 2022 Scientific News

Evolution of an Iron-Detoxifying Protein: Eukaryotic and Rickettsia Frataxins Contain a Conserved Site Which Is Not Present in Their Bacterial Homologues

Frataxin homologues, including… More
Nov 16, 2022 Scientific News

Blood Transcript Biomarkers Selected by Machine Learning Algorithm Classify Neurodegenerative Diseases including Alzheimer's Disease

The clinical diagnosis of… More
Nov 16, 2022 Scientific News

Prediction of the disease course in Friedreich ataxia

This study explores whether disease… More
Nov 11, 2022 Scientific News

C-Path and EFACTS Announce Data Sharing Agreement Making RDCA-DAP the Largest Worldwide Database for Friedreich’s Ataxia

TUCSON, Ariz., Nov. 10, 2022 — Critical… More
Nov 08, 2022 Scientific News

Reata Pharmaceuticals, Inc. Announces Third Quarter 2022 Financial Results And Provides An Update On Clinical Development Programs

NDA FOR OMAVELOXOLONE FOR PATIENTS WITH… More
Nov 07, 2022 Funded Research

Characteristics of the Isu1 C-terminus in relation to [2Fe-2S] cluster assembly and ISCU Myopathy

Mitochondrial [2Fe-2S] cluster… More
Nov 07, 2022 Funded Research

Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia

Spinal cord damage is a hallmark of… More
Nov 07, 2022 Scientific News

RNA as a Major-Groove Ligand: RNA-RNA and RNA-DNA Triplexes Formed by GAA and UUC or TTC Sequences

Friedreich's ataxia is associated with… More
Nov 07, 2022 Scientific News

The Use of Enhanced Recovery After Surgery Protocols and Sugammadex in a Friedreich Ataxia Patient Who Underwent Robotic Surgery: A Case Report of a Patient Who Required No Postoperative Opioids and Was Discharged Home Earlier Than Anticipated

Robotic surgery has shown to have… More
Oct 27, 2022 Funded Research

Spinal cord magnetic resonance imaging and spectroscopy detect early-stage alterations and disease progression in Friedreich ataxia

Atrophy of the spinal cord is one of… More
Oct 27, 2022 Scientific News

The Effect of Positive Charge Distribution on the Cryoprotective Activity of Dehydrins

Dehydrins are intrinsically disordered… More
Oct 25, 2022 Scientific News

One Week Until ICAR 2022!

One Week Until ICAR 2022! The… More
Oct 17, 2022 Funded Research

Selection of Synthetic Proteins to Modulate the Human Frataxin Function

Frataxin is a kinetic activator of the… More
Oct 13, 2022 Scientific News

Reata Pharmaceuticals Announces that the FDA Does Not Plan to Hold an Advisory Committee Meeting to Discuss the NDA for Omaveloxolone for Friedreich’s Ataxia

PLANO, Texas--(BUSINESS WIRE)-- Reata… More
Oct 12, 2022 Funded Research

SARS-CoV-2 in patients with Friedreich ataxia

This study reviews the course and… More
Oct 03, 2022 Funded Research

A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia

The variable length of the pathogenic… More
Oct 03, 2022 Scientific News

Diabetes mellitus and Friedreich´s ataxia in a child: a complicated coexistence

The appearance of motor clumsiness,… More
Oct 03, 2022 Scientific News

The inherited cerebellar ataxias: an update

This narrative review aims at providing… More
Oct 03, 2022 Scientific News

Respiratory Function in Friedreich's Ataxia

Alterations of respiratory dynamics and… More
Sep 30, 2022 Scientific News

Solid Biosciences Announces Acquisition of AavantiBio and Concurrent $75 Million Private Placement

- Transactions to create a precision… More
Sep 21, 2022 Funded Research

Activation of a type I interferon response associated with acute frataxin knockdown in iPSC-derived cardiomyocytes

Frataxin functions in the biogenesis of… More
Sep 20, 2022 Scientific News

Register before October 1st for discounted pricing for ICAR

The International Congress for Ataxia… More
Sep 14, 2022 Scientific News

Larimar Therapeutics Announces FDA has Partially Lifted the Clinical Hold and Plans for a Phase 2 Dose Exploration Trial of CTI-1601 in Friedreich’s Ataxia Patients

The FDA has cleared the initiation of… More
Sep 14, 2022 Scientific News

A promissing mouse model for Friedreich Ataxia progressing like human patients

Many groups worked on the creation of… More
Sep 07, 2022 Scientific News

The C-Terminal Cross-linked Telopeptide of Type I Collagen (CTX-I) as a Potential Cardiomyopathy Biomarker in Friedreich Ataxia Patients

The presence of Cardiomyopathy (CM) in… More
Sep 07, 2022 Scientific News

Hyperactivation of mTOR and AKT in a cardiac hypertrophy animal model of Friedreich ataxia

The mechanistic target of rapamycin… More
Sep 07, 2022 Scientific News

Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages

In this study, the authors aimed to… More
Aug 30, 2022 Funded Research

Frataxin controls ketone body metabolism through regulation of OXCT1

This study shows that frataxin controls… More
Aug 30, 2022 Scientific News

Perspectives on current models of Friedreich's ataxia

Generation of effective FRDA disease… More
Aug 22, 2022 Scientific News

A systematic review of disease prevalence, health-related quality of life, and economic outcomes associated with Friedreich's Ataxia

It is important to understand the… More
Aug 16, 2022 Supported Research

Study That Measures Efficacy of Experimental Friedreich’s Ataxia Treatment posted in medRXiv

Natural History study, funded by FARA,… More
Aug 15, 2022 Scientific News

Replication dependent and independent mechanisms of GAA repeat instability

(GAA)n repeat instability arises during… More
Aug 15, 2022 Scientific News

An open-label pilot study of recombinant granulocyte-colony stimulating factor in Friedreich's ataxia

This paper describes an open-label,… More
Aug 11, 2022 Scientific News

Larimar Therapeutics Provides Updates on CTI-1601 Clinical Program Following a Type C Meeting with the U.S. Food and Drug Administration and Reports Second Quarter 2022 Operating and Financial Results

Larimar Therapeutics Provides Updates… More
Aug 09, 2022 Scientific News

Reata Pharmaceuticals Announces Three Month Extension of the Review Period for New Drug Application for Omaveloxolone for the Treatment of Friedreich’s Ataxia

Reata Submitted New Data and Analyses… More
Aug 08, 2022 Scientific News

Reata Pharmaceuticals, Inc. Announces Second Quarter 2022 Financial Results and Provides an Update on Clinical Development Programs

Received Priority Review and Acceptance… More
Aug 05, 2022 Funded Research

Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation

Clinical trials in rare diseases as… More
Aug 05, 2022 Funded Research

Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia

To provide a better understanding of… More
Aug 05, 2022 Scientific News

Importance of an echocardiogram in the evaluation of ataxia

The authors present the case of a boy… More
Aug 05, 2022 Scientific News

Structural and Functional Characterization of CreFH1, the Frataxin Homolog from Chlamydomonas reinhardtii

Frataxin plays a key role in cellular… More
Aug 05, 2022 Scientific News

Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study

Despite recent progress in the field of… More
Aug 05, 2022 Scientific News

Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study

Cerebellar ataxia is a disabling… More
Jul 20, 2022 Scientific News

FARA General Research Grants - LOI Deadline is Aug 15th!

FARA General Research Grants Letter of… More
Jul 19, 2022 Funded Research

Meet the team at University of Florida for the TRACK-FA Study

Who are the team members? Manuela… More
Jul 19, 2022 Funded Research

Natural History of Friedreich's Ataxia: Heterogeneity of Neurological Progression and Consequences for Clinical Trial Design

The understanding of the natural… More
Jul 11, 2022 Scientific News

Metabolomics analysis reveals dysregulation in one carbon metabolism in Friedreich Ataxia

Multiple therapeutic approaches are in… More
Jul 11, 2022 Scientific News

Myocardial strain analysis by cardiac magnetic resonance 3D feature-tracking identifies subclinical abnormalities in patients with neuromuscular disease and no overt cardiac involvement

Cardiovascular magnetic resonance (CMR)… More
Jul 11, 2022 Scientific News

Safety and pharmacokinetics of a highly bioavailable resveratrol preparation (JOTROL TM)

Resveratrol exhibits a ide range of… More
Jul 05, 2022 Scientific News

Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich's Ataxia YG8sR Model: A Multilinear Algebra Approach

In FRDA cells, the lack of frataxin… More
Jun 29, 2022 Scientific News

Friedreich ataxia: clinical features and new developments

The multifaceted approach for clinical… More
Jun 22, 2022 Funded Research

Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxia

Frataxin deficiency in Friedreich's… More
Jun 22, 2022 Scientific News

Metal Ion Binding in Wild-Type and Mutated Frataxin: A Stability Study

This work studies the stability of… More
Jun 22, 2022 Scientific News

Hereditary Ataxia Overview

The purpose of this overview on… More
Jun 15, 2022 Scientific News

FARA General Research Grants - Letter of Intent Deadline - August 15, 2022

The deadline for Letters of Intent… More
Jun 13, 2022 Scientific News

Neuroinflammation in Friedreich's Ataxia

Although the overt manifestations of… More
Jun 07, 2022 Funded Research

Advantages and Limitations of Gene Therapy and Gene Editing for Friedreich's Ataxia

In this review, the authors provide an… More
Jun 07, 2022 Funded Research

A Drug Combination Rescues Frataxin-Dependent Neural and Cardiac Pathophysiology in FA Models

To date, FA therapeutic strategies have… More
Jun 07, 2022 Scientific News

A clinical and epidemiological prevalence study on Friedreich's Ataxia in Latium, Italy

This study aims at estimating the… More
May 31, 2022 Scientific News

Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia

The overt heterogeneity in age at onset… More
May 26, 2022 Scientific News

Reata Pharmaceuticals Announces FDA Filing Acceptance and Priority Review Designation for the NDA for Omaveloxolone for the Treatment of Patients with Friedreich’s Ataxia

The NDA is supported by the efficacy… More
May 23, 2022 Funded Research

Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich's Ataxia Blood

Full-length frataxin has a… More
May 23, 2022 Scientific News

A comprehensive Triple Repeat Primed PCR (TR-PCR) and a Long-Range PCR (LR-PCR) agarose-based assay for improved genotyping of GAA repeats in Friedreich's Ataxia

Detection and genotyping of the GAA… More
May 23, 2022 Scientific News

Genetic and Epigenetic Interplay Define Disease Onset and Severity in Repeat Diseases

Repeat diseases, such as fragile X… More
May 23, 2022 Scientific News

Neurological Recovery with Interferon-gamma Treatment in Friedreich's Ataxia

Various drugs are used to slow down /… More
May 17, 2022 Scientific News

ICAR - Abstract Deadline Approaching

The deadline to Submit your Abstract… More
May 10, 2022 Scientific News

Reata Pharmaceuticals has announced the company's first quarter financial results and provided an update on their clinical development programs.

Updates on their FA program include: -… More
May 09, 2022 Funded Research

Frataxin deficiency lowers lean mass and triggers the integrated stress response in skeletal muscle

Neurological and cardiac comorbidities… More
May 09, 2022 Scientific News

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders

This international multidisciplinary… More
May 09, 2022 Scientific News

Increased brain tissue sodium concentration in Friedreich ataxia: A multimodal MR imaging study

In patients with Friedreich ataxia,… More
May 02, 2022 Scientific News

Inherited Ataxias in Children

The purpose of this review is to… More
Apr 28, 2022 Funded Research

Posttranslational Regulation of Mitochondrial Frataxin and Identification of Compounds that Increase Frataxin Levels in Friedreich's Ataxia

This study shows that conditions that… More
Apr 28, 2022 Scientific News

Cognitive Dysfunction in Repeat Expansion Diseases: A Review

With the development of the sequencing… More
Apr 28, 2022 Scientific News

Towards a metabolomic approach to investigate iron-sulfur cluster biogenesis

Iron-sulfur clusters are prosthetic… More
Apr 18, 2022 Scientific News

The smoothened agonist SAG reduces mitochondrial dysfunction and neurotoxicity of frataxin-deficient astrocytes

Similar to other neurodegenerative… More
Apr 18, 2022 Scientific News

Yeast cells depleted of the frataxin homolog Yfh1 redistribute cellular iron: studies using Mössbauer spectroscopy and mathematical modeling

This study, primarily using Mössbauer… More
Apr 18, 2022 Scientific News

Predicting Mitochondrial Dynamic Behavior in Genetically Defined Neurodegenerative Diseases

Mitochondrial dynamics encompass… More
Apr 11, 2022 Scientific News

Cerebellar Pathology in an Inducible Mouse Model of Friedreich Ataxia

Cerebellar neuropathology in FRDA… More
Apr 10, 2022 Scientific News

Informational Webinar on CDRMP Funding Opportunities

New Funding Opportunities for… More
Apr 05, 2022 Funded Research

Bone Mineral Density and Current Bone Health Screening Practices in Friedreich's Ataxia

Impaired bone health is a complication… More
Apr 05, 2022 Scientific News

Aberrant Cerebral Iron Trafficking Co-morbid With Chronic Inflammation: Molecular Mechanisms and Pharmacologic Intervention

The redox properties that make iron an… More
Apr 05, 2022 Scientific News

Functional MRI Studies in Friedreich's Ataxia: A Systematic Review

Functional MRI (fMRI) studies, although… More
Mar 31, 2022 Scientific News

Reata Pharmaceuticals Completes Rolling Submission of New Drug Application for Omaveloxolone for the Treatment of Patients with Friedreich’s Ataxia

If Approved, Omaveloxolone Would Become… More
Mar 30, 2022 Scientific News

Design Therapeutics Completes Dosing in First Patient Cohort of Phase 1 Trial of DT-216 GeneTAC™ Molecule for the Treatment of Friedreich Ataxia

Topline Data from Phase 1 Trial… More
Mar 28, 2022 Funded Research

DNA methylation in Friedreich ataxia silences expression of frataxin isoform E

Epigenetic silencing in Friedreich… More
Mar 28, 2022 Scientific News

Modelling Protein Plasticity: The Example of Frataxin and Its Variants

Frataxin (FXN) is a protein involved in… More
Mar 28, 2022 Scientific News

Recessive cerebellar and afferent ataxias - clinical challenges and future directions

Cerebellar and afferent ataxias present… More
Mar 28, 2022 Scientific News

Should Advanced Friedreich's Ataxia Be a Contraindication for Heart Transplantation? A Case Report of a Successful Procedure in a 58-Year-Old Patient

The information on heart… More
Mar 28, 2022 Scientific News

Stealth BioTherapeutics Receives Orphan Drug Designation from FDA for Elamipretide for the Treatment of Friedreich's Ataxia

Phase 2a clinical trial in Friedreich's… More
Mar 21, 2022 Funded Research

Recent Advances in the Elucidation of Frataxin Biochemical Function Open Novel Perspectives for the Treatment of Friedreich's Ataxia

Frataxin (FXN) is a mitochondrial… More
Mar 21, 2022 Funded Research

Friedreich's Ataxia Related Diabetes: Epidemiology and Management Practices

Friedreich's Ataxia (FRDA) can be… More
Mar 21, 2022 Funded Research

Difficulties translating antisense-mediated activation of Frataxin expression from cell culture to mice

Previous studies have shown that… More
Mar 21, 2022 Scientific News

The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis

This study analyzes the cognitive… More
Mar 21, 2022 Scientific News

Quantitative susceptibility mapping reveals alterations of dentate nuclei in common types of degenerative cerebellar ataxias

The cerebellar nuclei are a brain… More
Mar 21, 2022 Scientific News

Control of arm movements in Friedreich's ataxia patients: role of sensory feedback

While major clinical features of… More
Mar 21, 2022 Scientific News

New Funding Opportunities for Friedreich Ataxia Research from the DoD

The Department of Defense’s… More
Mar 14, 2022 Funded Research

Selected Histone Deacetylase Inhibitors Reverse the Frataxin Transcriptional Defect in a Novel Friedreich's Ataxia Induced Pluripotent Stem Cell-Derived Neuronal Reporter System

The location and nature of the GAA… More
Mar 14, 2022 Scientific News

Gene therapy for Friedreich ataxia: Too much, too little, or just right?

Mol Ther Methods Clin Dev. 2022 Mar… More
Mar 14, 2022 Scientific News

Heat and cold denaturation of Yeast frataxin: the effect of pressure

Yfh1 is a yeast protein with the… More
Mar 14, 2022 Scientific News

Cur@SF NPs alleviate Friedreich's ataxia in a mouse model through synergistic iron chelation and antioxidation

Abnormal iron metabolism, mitochondrial… More
Mar 10, 2022 Scientific News

Serum glial fibrillary acidic protein is a body fluid biomarker: A valuable prognostic for neurological disease - A systematic review

Astrocytes are the most abundant cell… More
Mar 10, 2022 Scientific News

In vivo overexpression of frataxin causes toxicity mediated by iron-sulfur cluster deficiency

Preclinical studies in mice have shown… More
Mar 10, 2022 Scientific News

Heme oxygenase-nitric oxide crosstalk-mediated iron homeostasis in plants under oxidative stress

Plant growth under abiotic stress… More
Mar 10, 2022 Scientific News

Downregulation of Three Immune-Specific Core Genes and the Regulatory Pathways in Children and Adult Friedreich's Ataxia: A Comprehensive Analysis Based on Microarray

The authors identified the up-regulated… More
Mar 08, 2022 Scientific News

ICAR 2022: Keynote Address

ICAR 2022 Keynote Address Save the… More
Mar 01, 2022 Scientific News

Reata Pharmaceuticals Fourth Quarter Financial Results and Update on Development Programs

INITIATED ROLLING SUBMISSION OF NDA FOR… More
Feb 28, 2022 Scientific News

Design Therapeutics Announces FDA Clearance of Investigational New Drug Application for First GeneTAC™ Molecule for Friedreich Ataxia

Design Therapeutics, Inc., a… More
Feb 28, 2022 Scientific News

Drug Repositioning in Friedreich Ataxia

Frataxin function, although not… More
Feb 28, 2022 Scientific News

Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin

Protein mutations may lead to… More
Feb 28, 2022 Scientific News

MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

MRI shows the three archetypal patterns… More
Feb 22, 2022 Scientific News

Meet the team at University of Minnesota Center for Magnetic Resonance Research (CMRR) Ataxia Research

Top row (left to right): B. Hanna, J.… More
Feb 21, 2022 Scientific News

A Standardized Pipeline for Examining Human Cerebellar Grey Matter Morphometry using Structural Magnetic Resonance Imaging

Multiple lines of research provide… More
Feb 21, 2022 Scientific News

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Repeat expansion disorders affect about… More
Feb 21, 2022 Scientific News

Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases

Mitochondrial network is constantly in… More
Feb 21, 2022 Scientific News

SARS-CoV-2 attacks the weakest point - COVID-19 course in a pediatric patient with Friedreich's ataxia

COVID-19 pandemic is the biggest… More
Feb 21, 2022 Scientific News

FARA Flash Talk Series 2022 - Abstracts Due on March 1st

During the month of May, to celebrate… More
Feb 16, 2022 Scientific News

LEXEO Announces FDA Clearance of IND Application for LX2006 for Friedreich’s Ataxia Cardiomyopathy

LEXEO Therapeutics Announces FDA… More
Feb 14, 2022 Scientific News

Retrotope announces Phase 2/3 trial of RT001 in FA did not successfully meet its endpoints

FARA has been notified by Retrotope… More
Jan 31, 2022 Scientific News

Reata Pharmaceuticals Initiates Rolling Submission of New Drug Application with U.S. FDA for Omaveloxolone for the Treatment of Patients with Friedreich’s Ataxia

Plans to Complete Submission by the End… More
Jan 26, 2022 Scientific News

FARA Grants - 2022 Upcoming Deadlines

Deadlines for FARA's grant program… More
Jan 25, 2022 Scientific News

Therapeutic Strategies Targeting Mitochondrial Calcium Signaling: A New Hope for Neurological Diseases?

Calcium (Ca2+) is a versatile secondary… More
Jan 17, 2022 Scientific News

Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations.

Some FA patients present a GAA… More
Jan 17, 2022 Scientific News

During FeS-cluster biogenesis ferredoxin and frataxin use overlapping bindings sites on yeast cysteine desulfurase Nfs1

In mitochondria cysteine desulfurase… More
Jan 17, 2022 Scientific News

Hsa-miR223-3p circulating level is upregulated in Friedreich's ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1

This study carried out a miRNA… More
Jan 10, 2022 Scientific News

Current Drug Repurposing Strategies for Rare Neurodegenerative Disorders.

Rare diseases are life-threatening or… More
Jan 10, 2022 Scientific News

Transcriptional Analysis of Nuclear-Encoded Mitochondrial Genes in Eight Neurodegenerative Disorders: The Analysis of Seven Diseases in Reference to Friedreich's Ataxia.

Neurodegenerative diseases (NDDs) are… More
Jan 10, 2022 Scientific News

The attitude of patients with progressive ataxias towards clinical trials.

The development of new therapies may… More
Dec 27, 2021 Scientific News

Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients

Patients with suspected genetic ataxia… More
Dec 27, 2021 Scientific News

Nuclear Factor Erythroid-2-Related Factor 2 Signaling in the Neuropathophysiology of Inherited Metabolic Disorders.

Inherited metabolic disorders (IMDs)… More
Dec 27, 2021 Scientific News

A Combined Spectroscopic and In Silico Approach to Evaluate the Interaction of Human Frataxin with Mitochondrial Superoxide Dismutase.

The precise physiological function of… More
Dec 27, 2021 Scientific News

Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich's Ataxia.

Ocular abnormalities occur frequently… More
Dec 21, 2021 Funded Research

Epigenetic Heterogeneity in Friedreich Ataxia Underlies Variable FXN Reactivation

The expanded GAA repeat in FRDA induces… More
Dec 21, 2021 Scientific News

The Dynamin-Related Protein 1 is Decreased and the Mitochondrial Network is Altered in Friedreich's Ataxia Cardiomyopathy

The mitochondrial anatomy in Friedreich… More
Dec 21, 2021 Scientific News

Characterizing cardiac phenotype in Friedreich's ataxia: The CARFA study

The aim of this study is to… More
Dec 21, 2021 Scientific News

A pathogenic role for histone H3 copper reductase activity in a yeast model of Friedreich's ataxia

Disruptions to iron-sulfur (Fe-S)… More
Dec 12, 2021 Scientific News

Exicure, Inc. Announces Results of Internal Investigation and Implementation of Strategic Measures to Reduce Cash Burn and Prioritize Pipeline Focus

– Exicure will reduce its workforce by… More
Dec 06, 2021 Funded Research

The Responsiveness of Gait and Balance Outcomes to Disease Progression in Friedreich Ataxia

To identify gait and balance measures… More
Dec 06, 2021 Scientific News

Rad9-mediated checkpoint activation is responsible for elevated expansions of GAA repeats in CST-deficient yeast

The authors have previously conducted… More
Dec 06, 2021 Scientific News

Pharmacotherapy of cerebellar and vestibular disorders

Major therapeutic advances have been… More
Dec 01, 2021 Scientific News

ICAR 2022 HAS BEEN POSTPONED

ICAR 2022 HAS BEEN POSTPONED DUE TO… More
Nov 30, 2021 Scientific News

Source of medical information and behavioral seeking patterns in patients affected with Friedreich's ataxia and their caregivers: a survey study

The aim of this study was to improve… More
Nov 30, 2021 Scientific News

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

Neuromuscular disorders (NMDs) are… More
Nov 30, 2021 Scientific News

Molecular characteristics of proteins within the mitochondrial Fe-S cluster assembly complex

Iron-Sulfur (Fe-S) clusters are… More
Nov 22, 2021 Funded Research

Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay

This work analyzes three frataxin… More
Nov 22, 2021 Funded Research

Cellular pathophysiology of Friedreich's ataxia cardiomyopathy

FRDA cardiomyopathy is a complex and… More
Nov 22, 2021 Funded Research

Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study

Body mass index (BMI) and height are… More
Nov 22, 2021 Scientific News

Body Mass Index and Height in Friedreich Ataxia: What Do We Know?

This is a commentary on the paper “Body… More
Nov 22, 2021 Funded Research

FARA announces new Grant Program deadlines

FARA Grants - New Deadlines FARA is… More
Nov 19, 2021 Scientific News

Reata Pharmaceuticals Receives Fast Track Designation From the FDA for Omaveloxolone for the Treatment of Friedreich’s Ataxia

PLANO, Texas--(BUSINESS WIRE)-- Reata… More
Nov 16, 2021 Scientific News

Diagnosis and Management of Cardiovascular Involvement in Friedreich Ataxia

Cardiac involvement in FRDA, usually… More
Nov 16, 2021 Scientific News

Molecular approaches for the treatment and prevention of Friedreich's ataxia

Current management strategies for FRDA… More
Nov 16, 2021 Scientific News

Mitochondrial iron metabolism and neurodegenerative diseases

Iron is a key element for mitochondrial… More
Nov 16, 2021 Scientific News

Clinical and Molecular Features of First Mexican Friedreich's Ataxia Patients with Compound Heterozygous FXN Mutations

The broad clinical spectrum of FRDA… More
Nov 08, 2021 Scientific News

Left atrial appendage thrombosis in a patient with Friedreich Ataxia-related cardiomyopathy, left ventricular systolic dysfunction, and atrial fibrillation

Heart involvement in Friedreich ataxia… More
Nov 08, 2021 Scientific News

History of Ataxias and Paraplegias with an Annotation on the First Description of Striatonigral Degeneration

The aim of this paper is to carry out a… More
Nov 08, 2021 Scientific News

Objective Assessment of Progression and Disease Characterization of Friedreich Ataxia via an Instrumented Drinking Cup: Preliminary Results

The monitoring of disease progression… More
Nov 01, 2021 Funded Research

Targeting 3' and 5' untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression

Friedreich's ataxia (FRDA) results from… More
Nov 01, 2021 Scientific News

Tract-Specific Spinal Cord Diffusion Tensor Imaging in Friedreich's Ataxia

Spinal cord (SC) damage is a hallmark… More
Oct 26, 2021 Scientific News

Designing phase II clinical trials in Friedreich ataxia

Therapeutic approaches in FRDA have… More
Oct 26, 2021 Scientific News

Construction of DNA/RNA Triplex Helices Based on GAA/TTC Trinucleotide Repeats

Atypical DNA and RNA secondary… More
Oct 26, 2021 Scientific News

Mitochondrial Iron-Sulfur Cluster Biogenesis and Neurological Disorders

Iron-sulfur clusters (ISCs) are highly… More
Oct 26, 2021 Scientific News

Longitudinal investigation of brain activation during motor tasks in Friedreich ataxia: 24-month data from IMAGE-FRDA

While motor dysfunction is the primary… More
Oct 19, 2021 Funded Research

Request For Proposals: Pharmacodynamic Biomarker Development

Request For Proposals: Pharmacodynamic… More
Oct 18, 2021 Funded Research

In vivo assessment of OXPHOS capacity using 3 T CrCEST MRI in Friedreich's ataxia

The objective of this study was to… More
Oct 18, 2021 Funded Research

Neuroinflammation in the Cerebellum and Brainstem in Friedreich Ataxia: An [18 F]-FEMPA PET Study

Neuroinflammation is proposed to… More
Oct 11, 2021 Scientific News

Friedreich's ataxia-associated childhood hypertrophic cardiomyopathy: a national cohort study

Hypertrophic cardiomyopathy (HCM) is an… More
Oct 06, 2021 Scientific News

NeuroVoices: David R. Lynch, MD, PhD, on the First Potentially Approved Friedreich Ataxia Treatment

The professor of neurology at the… More
Sep 30, 2021 Funded Research

Adaptation of the heart to Frataxin depletion: Evidence that integrated stress response can predominate over mTORC1 activation

Cardiac dysfunction pathogenesis, and,… More
Sep 30, 2021 Funded Research

Reata Pharmaceuticals Plans NDA Submission for Omaveloxolone in First Quarter of 2022 Following Completion of Pre-NDA Meeting with FDA

Approximately 5,000 Children and Adults… More
Sep 22, 2021 Funded Research

Age of onset modulates resting-state brain network dynamics in Friedreich Ataxia

This magnetoencephalography (MEG) study… More
Sep 22, 2021 Scientific News

Blood Neurofilament Light Chain in Genetic Ataxia: A Meta-Analysis

No comprehensive meta-analysis has ever… More
Sep 13, 2021 Scientific News

Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up

Despite the growing interest and the… More
Sep 13, 2021 Scientific News

A mitochondrial membrane-bridging machinery mediates signal transduction of intramitochondrial oxidation

Mitochondria are the main site for… More
Sep 09, 2021 Scientific News

LEXEO Therapeutics Closes $100 Million Series B Financing

Financing led by D1 Capital Partners… More
Sep 09, 2021 Scientific News

Three Adult-Onset Autosomal Recessive Ataxias: What Adult Neurologists Need to Know

This review seeks to raise awareness of… More
Aug 30, 2021 Scientific News

Neuro-Ophthalmological Findings in Friedreich's Ataxia

This review provides a brief overview… More
Aug 30, 2021 Scientific News

Brain Structure and Degeneration Staging in Friedreich Ataxia: MRI Volumetrics from the ENIGMA-Ataxia Working Group

This group of investigators undertook a… More
Aug 24, 2021 Scientific News

Mechanisms of impaired mitochondrial homeostasis and NAD + metabolism in a model of mitochondrial heart disease exhibiting redox active iron accumulation

Previous studies identified defective… More
Aug 24, 2021 Scientific News

Treatment with ROS detoxifying gold quantum clusters alleviates the functional decline in a mouse model of Friedreich ataxia

Although FRDA has no cure and few… More
Aug 16, 2021 Scientific News

SS-31 efficacy in a mouse model of Friedreich ataxia by upregulation of frataxin expression

Previous studies have shown that SS-31,… More
Aug 13, 2021 Scientific News

Reata Pharmaceuticals, Inc. Announces Second Quarter 2021 Financial Results and Provides an Update on Clinical Development Programs

PLANO, Texas--(BUSINESS WIRE)-- Reata… More
Aug 13, 2021 Scientific News

Design Therapeutics Reports GeneTAC™ Portfolio Progress and Second Quarter 2021 Results

Preclinical Data Support Initiation of… More
Aug 09, 2021 Scientific News

Copper, Iron, and Manganese Toxicity in Neuropsychiatric Conditions

Copper, manganese, and iron are vital… More
Aug 09, 2021 Scientific News

The Role of Voltage-Dependent Anion Channel in Mitochondrial Dysfunction and Human Disease

The voltage-dependent anion channel… More
Aug 09, 2021 Scientific News

Digital endpoints for self-administered home-based functional assessment in pediatric Friedreich's ataxia

This study evaluated the utility of… More
Aug 09, 2021 Scientific News

Diagnostic and Prognostic Value of Cardiovascular Magnetic Resonance in Neuromuscular Cardiomyopathies.

Neuromuscular diseases (NMD) encompass… More
Aug 09, 2021 Scientific News

Polyuria and Acute Hyperglycemia Secondary to New-Onset Diabetes in a Young Woman With Friedreich's Ataxia

A 23-year-old woman with progressive… More
Jul 27, 2021 Scientific News

Very late-onset Friedreich's ataxia with rapid course mimicking as possible multiple system atrophy cerebellar type

A 55-year-old man was admitted to the… More
Jul 27, 2021 Scientific News

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner

The GAA repeat tract in intron 1 of the… More
Jul 19, 2021 Scientific News

Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report

Friedreich ataxia is the most frequent… More
Jul 13, 2021 Funded Research

Friedreich Ataxia: Multidisciplinary Clinical Care

Friedreich ataxia (FRDA) is a… More
Jul 13, 2021 Scientific News

Myocardial Perfusion Reserve in Children with Friedreich Ataxia

Children with Friedreich's ataxia (FA)… More
Jul 13, 2021 Scientific News

Differential efficacies of Cas nucleases on microsatellites involved in human disorders and associated off-target mutations

Microsatellite expansions are the cause… More
Jul 06, 2021 Scientific News

The Cost of Living with Inherited Ataxia in Ireland

Inherited ataxias are a heterogenous… More
Jul 06, 2021 Scientific News

Generation of transgene-free iPSC lines from three patients with Friedreich's ataxia (FRDA) carrying GAA triplet expansions in the first intron of FXN gene

In this present study, the authors… More
Jul 06, 2021 Scientific News

Molecular Details of the Frataxin-Scaffold Interaction during Mitochondrial Fe-S Cluster Assembly

Iron-sulfur clusters are essential to… More
Jun 30, 2021 Scientific News

LEXEO Therapeutics Receives Rare Pediatric Disease Designation and Orphan Drug Designation.

NEW YORK – June 30, 2021 (GLOBE… More
Jun 28, 2021 Funded Research

A Focus on "Bio" in Bio-Nanoscience: The Impact of Biological Factors on Nanomaterial Interactions

Bio-nanoscience research encompasses… More
Jun 21, 2021 Scientific News

The cardiomyopathy of Friedreich's ataxia common in a family: A case report

In this article, the authors have… More
Jun 15, 2021 Scientific News

CRISPR Therapeutics and Capsida Biotherapeutics Announce Strategic Collaboration to Develop Gene-Edited Therapies for Amyotrophic Lateral Sclerosis and Friedreich’s Ataxia

ZUG, Switzerland and CAMBRIDGE, Mass.… More
Jun 09, 2021 Scientific News

Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family

Friedreich ataxia is the most common… More
Jun 09, 2021 Scientific News

Frataxin and endothelial cell senescence in pulmonary hypertension

Pulmonary hypertension (PH), increased… More
Jun 02, 2021 Funded Research

Iron-sulfur cluster deficiency can be sensed by IRP2 and regulates iron homeostasis and sensitivity to ferroptosis independent of IRP1 and FBXL5

Intracellular iron levels are strictly… More
Jun 02, 2021 Scientific News

Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions

This paper reviews some of the… More
Jun 02, 2021 Scientific News

An unusual combination of large Eustachian valve in a young patient with Friedreich's ataxia cardiomyopathy

A 20-year-old male with Friedreich… More
Jun 02, 2021 Scientific News

Generation of a Friedreich's Ataxia patient-derived iPSC line USFi001-A

This paper presents the generation of… More
May 27, 2021 Scientific News

The Oxford-Harrington Rare Disease Centre initiates first disease priority area: Friedreich's Ataxia

The Oxford-Harrington Rare Disease… More
May 25, 2021 Scientific News

Larimar Therapeutics Reports FDA Clinical Hold on CTI-1601 and Termination of Recently Announced Private Placement Financing

BALA CYNWYD, Pa., May 25, 2021 (GLOBE… More
May 24, 2021 Scientific News

Results of a randomized double-blind study evaluating luvadaxistat in adults with Friedreich ataxia

Luvadaxistat (also known as TAK-831;… More
May 20, 2021 Scientific News

Larimar Therapeutics Receives European Medicines Agency Priority Medicines (PRIME) Designation for CTI-1601 in Friedreich’s Ataxia

BALA CYNWYD, Pa., May 20, 2021 (GLOBE… More
May 19, 2021 Funded Research

Reata Announces that The FDA Has Asked The Company to Request a Pre-NDA Meeting for Omaveloxolone for the Treatment of Friedreich’s Ataxia

FARA Co-Founder and President, Ron… More
May 17, 2021 Funded Research

Reverse phase protein array reveals correlation of retinoic acid metabolism with cardiomyopathy in Friedreich's ataxia

This study utilized a sensitive and… More
May 11, 2021 Scientific News

Larimar Therapeutics Reports Positive Topline Phase 1 Clinical Trial Data Showing Dose-Dependent Increases in Frataxin Levels in Patients with Friedreich’s Ataxia

BALA CYNWYD, Pa., May 11, 2021 (GLOBE… More
May 10, 2021 Funded Research

Drp1-dependent peptide reverse mitochondrial fragmentation, a homeostatic response in Friedreich ataxia

Mitochondria alter their morphology in… More
May 10, 2021 Funded Research

Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort

The objective of this study was to… More
May 06, 2021 Scientific News

April Monthly Update for Researchers

FARA Flash Talks May is FA Awareness… More
May 03, 2021 Funded Research

Frataxin deficiency promotes endothelial senescence in pulmonary hypertension

The dynamic regulation of endothelial… More
May 03, 2021 Scientific News

The Cardioprotective Mechanism of Phenylaminoethyl Selenides (PAESe) Against Doxorubicin-Induced Cardiotoxicity Involves Frataxin

Doxorubicin (DOX) is an anthracycline… More
May 03, 2021 Scientific News

Variable-Temperature Electrospray Ionization for Temperature-Dependent Folding/Refolding Reactions of Proteins and Ligand Binding

Stabilities and structure(s) of… More
Apr 19, 2021 Scientific News

Longitudinal structural brain changes in Friedreich ataxia depend on disease severity: the IMAGE-FRDA study

Disease progression in Friedreich… More
Apr 12, 2021 Scientific News

Remember friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy: revisited

Neurological manifestations in FRDA… More
Apr 07, 2021 Supported Research

Healx launches partnership with Ataxia UK and FARA to find treatments for rare neurodegenerative condition

Ataxia UK is the leading charity in the… More
Mar 29, 2021 Funded Research

Quantitative assessment of Friedreich Ataxia via self-drinking activity

Effective monitoring of the progression… More
Mar 29, 2021 Funded Research

Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection

Somatic expansion of the CAG repeat… More
Mar 29, 2021 Scientific News

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

The European Friedreich's Ataxia… More
Mar 29, 2021 Scientific News

Pre-clinical left ventricular myocardial remodeling in patients with Friedreich's ataxia: A cardiac MRI study

Heart Failure (HF) is the most common… More
Mar 29, 2021 Scientific News

March Monthly Update for Researchers

2021 FARA Flash Talks - Call for… More
Mar 22, 2021 Funded Research

The Role of Serum Levels of Neurofilament Light (NfL) Chain as a Biomarker in Friedreich Ataxia

Several studies suggest that NfL is a… More
Mar 22, 2021 Funded Research

In vivo survival and differentiation of Friedreich ataxia iPSC-derived sensory neurons transplanted in the adult dorsal root ganglia

To explore cell replacement therapies… More
Mar 22, 2021 Scientific News

Synthesis of 5-[(1H-indol-3-yl)methyl]-1,3,4-oxadiazole-2(3H)-thiones and their protective activity against oxidative stress

A small library of… More
Mar 15, 2021 Scientific News

Nuclear Factor Erythroid 2-Related Factor 2 Activation Might Mitigate Clinical Symptoms in Friedreich's Ataxia: Clues of an "Out-Brain Origin" of the Disease From a Family Study

This group has previously described a… More
Mar 15, 2021 Scientific News

Systematic Review: Quantitative Susceptibility Mapping (QSM) of Brain Iron Profile in Neurodegenerative Diseases

Iron has been increasingly implicated… More
Mar 08, 2021 Funded Research

Ectopic Burden via Holter Monitors in Friedreich Ataxia

Nearly 60% of deaths Friedreich ataxia… More
Mar 08, 2021 Scientific News

Crosstalk between nucleus and mitochondria in human disease: Mitochondrial iron and calcium homeostasis in Friedreich ataxia

Evidence indicate that frataxin… More
Mar 08, 2021 Scientific News

Frataxins Emerge as New Players of the Intracellular Antioxidant Machinery

The lack of frataxin induces the… More
Mar 08, 2021 Scientific News

Future Prospects of Gene Therapy for Friedreich's Ataxia

A plausible therapeutic approach for… More
Feb 26, 2021 Funded Research

Safety and feasibility of upper limb cardiopulmonary exercise test in Friedreich ataxia

This study aims to explore the… More
Feb 26, 2021 Scientific News

The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients

FXN is involved in the mitochondrial… More
Feb 26, 2021 Scientific News

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice

The genetic and epidemiological… More
Feb 26, 2021 Scientific News

Retrotope Granted Rare Pediatric Disease Designation from FDA

Retrotope Granted Rare Pediatric… More
Feb 22, 2021 Scientific News

Auditory Phenotypic Variability in Friedreich's Ataxia Patients

Auditory neural impairment is a key… More
Feb 22, 2021 Scientific News

Prognostic value of longitudinal strain and ejection fraction in Friedreich ataxia

Cardiac disease is the major cause of… More
Feb 15, 2021 Scientific News

Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease

In this review the authors discuss… More
Feb 15, 2021 Scientific News

Gauging Gait Disorders with a Method Inspired by Motor Control Theories: A Pilot Study in Friedreich's Ataxia

It has been found that instrumented… More
Feb 08, 2021 Scientific News

Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich's ataxia fibroblasts

Frataxin deficiency in Friedreich's… More
Jan 28, 2021 Scientific News

DNA repair pathways are altered in neural cell models of frataxin deficiency

As part of the overall efforts to… More
Jan 26, 2021 Scientific News

Replication-independent instability of Friedreich's ataxia GAA repeats during chronological aging

Nearly 50 hereditary diseases result… More
Jan 25, 2021 Scientific News

Efficacy of echocardiography for differential diagnosis of left ventricular hypertrophy: special focus on speckle-tracking longitudinal strain

Left ventricular (LV) hypertrophy (LVH)… More
Jan 18, 2021 Funded Research

Dimethyl fumarate dose-dependently increases mitochondrial gene expression and function in muscle and brain of Friedreich's ataxia model mice

Dimethyl fumarate (DMF)… More
Jan 18, 2021 Funded Research

Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia

Friedreich ataxia (FRDA) is typically… More
Jan 18, 2021 Funded Research

Omaveloxolone: potential new agent for Friedreich ataxia

There are no approved therapies for… More
Jan 18, 2021 Funded Research

Hand Dexterity and Pyramidal Dysfunction in Friedreich Ataxia, A Finger Tapping Study

Loss of hand dexterity has a profound… More
Jan 11, 2021 Scientific News

Friedreich ataxia in COVID-19 time: current impact and future possibilities

COVID-19 outbreak profoundly impacted… More
Jan 07, 2021 Scientific News

LEXEO Therapeutics Launches with $85 Million Series A Financing to Develop Gene Therapies for Rare and Non-Rare Monogenic Diseases

Rare disease and gene therapy industry… More
Jan 06, 2021 Funded Research

Developing an Instrumented Measure of Upper Limb Function in Friedreich Ataxia

Upper limb function for people with… More
Dec 31, 2020 Scientific News

Cardiomyopathy as the first manifestation of Friedreich's ataxia

This study presents the case of a… More
Dec 31, 2020 Scientific News

Effects of Fe 2+/Fe 3+ Binding to Human Frataxin and Its D122Y Variant, as Revealed by Site-Directed Spin Labeling (SDSL) EPR Complemented by Fluorescence and Circular Dichroism Spectroscopies

Frataxin's actual physiological… More
Dec 31, 2020 Scientific News

Efficacy and Tolerability of Interferon Gamma in Treatment of Friedreich's Ataxia: Retrospective Study

Interferon-gamma (IFN-γ) has been shown… More
Dec 28, 2020 Scientific News

Exicure Provides Neuroscience Pipeline Update at Virtual R&D Day

CHICAGO & CAMBRIDGE, Mass.--(BUSINESS… More
Dec 21, 2020 Scientific News

Thioredoxin and Glutaredoxin Systems as Potential Targets for the Development of New Treatments in Friedreich's Ataxia

The thioredoxin family consists of a… More
Dec 15, 2020 Scientific News

Minoryx's clinical candidate leriglitazone shows clinical benefit in a proof of concept Phase 2 study in Friedreich's ataxia

MIN-102 (leriglitazone) is an orally… More
Dec 14, 2020 Scientific News

Calcitriol increases frataxin levels and restores mitochondrial function in cell models of Friedreich Ataxia

In primary cultures of dorsal root… More
Dec 08, 2020 Scientific News

Larimar Therapeutics Announcement/Program Update

BALA CYNWYD, Pa., Dec. 08, 2020 (GLOBE… More
Dec 07, 2020 Funded Research

Mitochondrial dysfunction in the development and progression of neurodegenerative diseases

In addition to ATP synthesis,… More
Dec 07, 2020 Scientific News

Molecular Defects in Friedreich's Ataxia: Convergence of Oxidative Stress and Cytoskeletal Abnormalities

After the discovery of the molecular… More
Nov 30, 2020 Funded Research

Central Nervous System Therapeutic Targets in Friedreich Ataxia

Friedreich ataxia (FRDA) is an… More
Nov 23, 2020 Funded Research

High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models

Cardiac dysfunction is the main cause… More
Nov 23, 2020 Funded Research

The Nrf2 induction prevents ferroptosis in Friedreich's Ataxia

Ferroptosis is an iron-dependent cell… More
Nov 23, 2020 Scientific News

Antiferroptotic Activity of Phenothiazine Analogues: A Novel Therapeutic Strategy for Oxidative Stress Related Disease

Ferroptosis is an iron-catalyzed,… More
Nov 23, 2020 Scientific News

Ferroptosis in Friedreich's Ataxia: A Metal-Induced Neurodegenerative Disease

Ferroptosis is an iron-dependent form… More
Nov 23, 2020 Scientific News

Analysis of Postural Control in Sitting by Pressure Mapping in Patients with Multiple Sclerosis, Spinal Cord Injury and Friedreich's Ataxia: A Case Series Study

The postural control assessments in… More
Nov 16, 2020 Scientific News

PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia

The peroxisome proliferator-activated… More
Nov 11, 2020 Scientific News

Sensitivity of Neuroimaging Indicators in Monitoring the Effects of Interferon Gamma Treatment in Friedreich's Ataxia

The identification of efficient markers… More
Nov 11, 2020 Scientific News

Effect of Mitochondrial and Cytosolic FXN Isoform Expression on Mitochondrial Dynamics and Metabolism

Alternative forms of frataxin have been… More
Nov 11, 2020 Scientific News

Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy

This study describes the case of a… More
Nov 11, 2020 Scientific News

Epicardial ablation for ventricular tachycardia in Freidreich's ataxia cardiomyopathy

This work presents the first case of… More
Nov 02, 2020 Funded Research

An Overview of the Ferroptosis Hallmarks in Friedreich's Ataxia

Friedreich's ataxia (FRDA) is caused by… More
Nov 02, 2020 Scientific News

Oxidative stress modulates rearrangement of endoplasmic reticulum-mitochondria contacts and calcium dysregulation in a Friedreich's ataxia model

Endoplasmic Reticulum-mitochondria… More
Oct 28, 2020 Scientific News

Aerobic Exercises Induce Antioxidant Pathways Activation in Rats

Aerobic exercises induce adaptations… More
Oct 21, 2020 Scientific News

Safety and Efficacy of Omaveloxolone in Friedreich's Ataxia (MOXIe Study)

Omaveloxolone, an Nrf2 activator,… More
Oct 21, 2020 Scientific News

Clinical Therapeutic Management of Human Mitochondrial Disorders

Despite recent advances in the… More
Oct 21, 2020 Scientific News

Longitudinal Study of Cognitive Functioning in Friedreich's Ataxia

To date, the evolution of cognitive… More
Oct 19, 2020 Scientific News

Sexual function, intimate relationships and Friedreich ataxia

Sexual dysfunction (SD) is reported in… More
Oct 13, 2020 Funded Research

Assessment of Disease Progression in Friedreich Ataxia using an Instrumented Self Feeding Activity

In Friedreich ataxia (FRDA), it is… More
Oct 13, 2020 Scientific News

Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population

Autosomal recessive cerebellar ataxias… More
Oct 13, 2020 Scientific News

Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells

The molecular mechanisms of reduced… More
Oct 13, 2020 Scientific News

Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations

This study assessed the clinimetric… More
Oct 13, 2020 Scientific News

Quantitative Assessment of Friedreich Ataxia through the self-drinking activity

The progression of neurodegenerative… More
Oct 13, 2020 Scientific News

Oxidative stress-dependent frataxin inhibition mediated alcoholic hepatocytotoxicity through ferroptosis

Alcoholic liver disease (ALD) is one of… More
Oct 05, 2020 Scientific News

Mechanistic concepts of iron-sulfur protein biogenesis in Biology

Iron-sulfur (Fe/S) proteins are present… More
Oct 05, 2020 Scientific News

Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin

Pure sensory polyneuropathy of genetic… More
Oct 05, 2020 Scientific News

Loss of mitochondrial localization of human FANCG causes defective FANCJ helicase

Fanconi anemia (FA) is a unique DNA… More
Sep 28, 2020 Funded Research

Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich's ataxia

Numerous studies of mitochondrial… More
Sep 28, 2020 Funded Research

A Highly Conserved Iron-Sulfur Cluster Assembly Machinery between Humans and Amoeba Dictyostelium discoideum: The Characterization of Frataxin

This group proposes to use the amoeba… More
Sep 24, 2020 Funded Research

Global, multi-stakeholder, consortium launched to study neuroimaging biomarkers for Friedreich Ataxia

A Natural History Study to TRACK Brain… More
Sep 22, 2020 Funded Research

Emerging therapies in Friedreich's Ataxia

This review covers past and emerging… More
Sep 22, 2020 Scientific News

Iron-sulfur cluster protein NITROGEN FIXATION S-LIKE 1 and its interactor FRATAXIN function in plant immunity

Iron-sulfur (Fe-S) clusters are… More
Sep 22, 2020 Scientific News

Altered Secretome and ROS Production in Olfactory Mucosa Stem Cells Derived from Friedreich's Ataxia Patients

Human olfactory ecto-mesenchymal stem… More
Sep 22, 2020 Scientific News

Iron-Sulfur Cluster Complex Assembly in the Mitochondria of Arabidopsis thaliana

In plants, the cysteine desulfurase… More
Sep 16, 2020 Scientific News

Molecular and Cellular Substrates for the Friedreich Ataxia. Significance of Contactin Expression and of Antioxidant Administration

This study explores the neural… More
Sep 16, 2020 Scientific News

HDAC3 deacetylates the DNA mismatch repair factor MutSβ to stimulate triplet repeat expansions

Trinucleotide repeat (TNR) expansions… More
Sep 08, 2020 Scientific News

Plasma and red blood cell membrane accretion and pharmacokinetics of RT001 (bis-allylic 11,11-D2-linoleic acid ethyl ester) during long term dosing in patients

RT001 is the di-deutero isotopologue of… More
Sep 03, 2020 Funded Research

The Friedreich’s Ataxia Accelerator will apply genomics tools to promote discovery of new treatments

A new research and drug discovery… More
Sep 03, 2020 Funded Research

Ataxia: Hope starts with measurement

FARA and AFAF (our advocacy partner in… More
Aug 31, 2020 Scientific News

Friedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies

A body of literature has been focused… More
Aug 24, 2020 Funded Research

Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons

In this study, the authors generate… More
Aug 24, 2020 Scientific News

Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic

Establishing a molecular diagnosis in… More
Aug 24, 2020 Scientific News

Atypical structures of GAA/TTC trinucleotide repeats underlying Friedreich's ataxia: DNA triplexes and RNA/DNA hybrids

Expansion of the GAA/TTC repeats in the… More
Aug 17, 2020 Scientific News

Reata provides update on development of omaveloxolone in FA

Omaveloxolone for Friedreich’s Ataxia… More
Aug 17, 2020 Funded Research

Test-retest reliability of the Friedreich's ataxia rating scale

The modified Friedreich Ataxia Rating… More
Aug 17, 2020 Funded Research

Distribution of Particles in Human Stem Cell-Derived 3D Neuronal Cell Models: Effect of Particle Size, Charge, and Density

Neurodegenerative diseases are… More
Aug 17, 2020 Funded Research

Identification of a Novel Oleic Acid Analog with Protective Effects in Multiple Cellular Models of Friedreich Ataxia

Previous studies suggested that cell… More
Aug 10, 2020 Scientific News

R-loops promote trinucleotide repeat deletion through DNA base excision repair enzymatic activities

Trinucleotide repeat (TNR) expansion… More
Aug 10, 2020 Scientific News

Onset features and time to diagnosis in Friedreich's Ataxia

In rare disorders diagnosis may be… More
Aug 03, 2020 Scientific News

A Drosophila model of Friedreich Ataxia with CRISPR/Cas9 insertion of GAA repeats in the frataxin gene reveals in vivo protection by N-acetyl cysteine

Thanks to the high degree of frataxin… More
Aug 03, 2020 Scientific News

Antioxidant Defense Mechanisms and its Dysfunctional Regulation in the Mitochondrial Disease, Friedreich's Ataxia

Redox stress is associated with the… More
Aug 03, 2020 Scientific News

Toward quantitative neuroimaging biomarkers for Friedreich's ataxia at 7 Tesla: Susceptibility mapping, diffusion imaging, R 2 and R 1 relaxometry

Ten (Friedreich's ataxia) FRDA patients… More
Aug 03, 2020 Scientific News

Antioxidant Therapies and Oxidative Stress in Friedreich´s Ataxia: The Right Path or Just a Diversion?

One of the most studied hallmarks of… More
Jul 27, 2020 Scientific News

Larimar Therapeutics Announces Dosing of Patients in Third Cohort of Phase 1 SAD Trial of CTI-1601 for Treatment of Friedreich’s Ataxia

BALA CYNWYD, Pa., July 20, 2020 (GLOBE… More
Jul 27, 2020 Funded Research

Relationship between activity and stability: Design and characterization of stable variants of human frataxin

Frataxin (FXN) is an essential protein… More
Jul 20, 2020 Scientific News

Current Status of microRNA-Based Therapeutic Approaches in Neurodegenerative Disorders

MicroRNAs (miRNAs) are a key gene… More
Jul 20, 2020 Scientific News

Safety and Efficacy of (+)-Epicatechin in Subjects with Friedreich's Ataxia: A Phase II, Open-Label, Prospective Study

(+)-Epicatechin (EPI) induces… More
Jul 20, 2020 Scientific News

MR imaging and spectroscopy in degenerative ataxias: toward multimodal, multisite, multistage monitoring of neurodegeneration

Degenerative ataxias are rare and… More
Jul 13, 2020 Scientific News

Cardiolipin-deficient cells have decreased levels of the iron-sulfur biogenesis protein frataxin

Cardiolipin (CL) is the signature… More
Jul 13, 2020 Scientific News

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

Friedreich's ataxia (FRDA) is usually… More
Jul 13, 2020 Scientific News

Trinucleotide Repeat Disorders

Trinucleotide repeat disorders consist… More
Jul 13, 2020 Scientific News

Stress-induced Mouse Model of the Cardiac Manifestations of Friedreich's Ataxia Corrected by AAV-mediated Gene Therapy

Although cardiac dysfunction is the… More
Jul 06, 2020 Scientific News

A Novel Solution-Gated Graphene Transistor Biosensor for Ultrasensitive Detection of Trinucleotide Repeats

A new way to detect GAA trinucleotide… More
Jul 01, 2020 Scientific News

New Request For Proposals: Therapeutic window of frataxin

FARA is announcing a request for… More
Jun 29, 2020 Funded Research

Mitochondrial Damage and Senescence Phenotype of Cells Derived From a Novel Frataxin G127V Point Mutation Mouse Model of Friedreich's Ataxia

A prevalent missense mutation among… More
Jun 29, 2020 Funded Research

HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich's Ataxia

Currently there is no effective… More
Jun 29, 2020 Scientific News

Feasibility and Acceptability of Lee Silverman Voice Treatment in Progressive Ataxias

Communication difficulties have… More
Jun 18, 2020 Scientific News

Treatment of Dilated Cardiomyopathy in a Mouse Model of Friedreich's Ataxia Using N-acetylcysteine and Identification of Alterations in MicroRNA Expression That Could Be Involved in Its Pathogenesis

This group reported that the master… More
Jun 18, 2020 Scientific News

Defining Transcription Regulatory Elements in the Human Frataxin Gene: Implications for Gene Therapy

Despite numerous studies focused on… More
Jun 18, 2020 Scientific News

Vestibular Impact of Friedreich Ataxia in Early Onset Patients

Friedreich ataxia (FRDA) is the most… More
Jun 18, 2020 Scientific News

Cerebellar Cognitive Disorder Parallels Cerebellar Motor Symptoms in Friedreich Ataxia

Dentate nuclei (DN) are involved in… More
Jun 09, 2020 Scientific News

Significance of NT-proBNP and High-sensitivity Troponin in Friedreich Ataxia

The authors aimed at determining the… More
Jun 01, 2020 Funded Research

CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells From Patients With Friedreich's Ataxia

These investigators have previously… More
Jun 01, 2020 Scientific News

Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis

Heme and Fe-S clusters regulate a… More
May 29, 2020 Scientific News

Chondrial Therapeutics and Zafgen Complete Merger and Begin Operating as Larimar Therapeutics

May 29, 2020 at 8:00 AM EDT Shares of… More
May 18, 2020 Funded Research

Analysis of Putative Epigenetic Regulatory Elements in the FXN Genomic Locus

The molecular mechanisms associated… More
May 18, 2020 Scientific News

Making iron-sulfur cluster: structure, regulation and evolution of the bacterial ISC system

Iron sulfur (Fe-S) clusters rank among… More
May 11, 2020 Funded Research

Neurofilament Light Chain as a Potential Biomarker of Disease Status in Friedreich Ataxia

The present study evaluates serum… More
May 11, 2020 Funded Research

Primary Proprioceptive Neurons From Human Induced Pluripotent Stem Cells: A Cell Model for Afferent Ataxias

Human induced pluripotent stem cells… More
May 11, 2020 Scientific News

Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement

DNA repeat expansion disorders are a… More
May 04, 2020 Scientific News

Neurologic Outcomes in Friedreich Ataxia: Study of a Single-Site Cohort

This study investigates the pattern of… More
May 04, 2020 Scientific News

Therapeutic Potential of Stem Cells for Treatment of Neurodegenerative Diseases

The regenerative potential of stem… More
May 04, 2020 Scientific News

ExpansionHunter Denovo: A Computational Method for Locating Known and Novel Repeat Expansions in Short-Read Sequencing Data

Repeat expansions are responsible for… More
Apr 27, 2020 Scientific News

Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration

Oxidative stress is an imbalance… More
Apr 27, 2020 Scientific News

Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis

Iron-sulfur (Fe-S) clusters (ISCs) are… More
Apr 20, 2020 Funded Research

Progress Towards Drug Discovery for Friedreich's Ataxia: Identifying Synthetic Oligonucleotides That More Potently Activate Expression of Human Frataxin Protein

The authors have previously… More
Apr 20, 2020 Scientific News

A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich's Ataxia Patients

As miRNAs can regulate the expression… More
Apr 20, 2020 Scientific News

An Overview of the Current State and the Future of Ataxia Treatments

Cerebellar ataxia can be caused by a… More
Apr 13, 2020 Funded Research

Long-term voluntary running prevents the onset of symptomatic Friedreich's ataxia in mice

Endurance exercise is the most powerful… More
Apr 13, 2020 Scientific News

Calpain-Inhibitors Protect Frataxin-Deficient Dorsal Root Ganglia Neurons from Loss of Mitochondrial Na+/Ca2+ Exchanger, NCLX, and Apoptosis

Calpains are calcium-dependent… More
Apr 13, 2020 Scientific News

Cofilin dysregulation alters actin turnover in frataxin-deficient neurons

Abnormalities in actin cytoskeleton… More
Apr 13, 2020 Scientific News

Particle-mediated delivery of frataxin plasmid to a human sensory neuronal model of Friedreich's ataxia

Increasing frataxin protein levels… More
Apr 13, 2020 Scientific News

Frataxin-deficient cardiomyocytes present an altered thiol-redox state which targets actin and pyruvate dehydrogenase

Friedreich ataxia (FA) is a… More
Mar 30, 2020 Scientific News

A wearable video-oculography based evaluation of saccades and respective clinical correlates in patients with early onset ataxia

Friedreich Ataxia (FRDA) and other… More
Mar 30, 2020 Scientific News

Neurophysiologic intraoperative monitoring (NIOM) in pediatric patients with polyneuropathy

Neurophysiologic intraoperative… More
Mar 20, 2020 Supported Research

Design Therapeutics Launches with $45 Million to Develop a New Class of Disease-Modifying Therapies for Serious Degenerative Disorders

Series A Financing Funds Novel Pipeline… More
Mar 16, 2020 Scientific News

Identification of Frataxin as a regulator of ferroptosis

Ferroptosis is a newly discovered form… More
Mar 10, 2020 Funded Research

The Assessment of Upper Limb Functionality in Friedreich Ataxia via Self-Feeding Activity

The objective assessment of motor… More
Mar 10, 2020 Scientific News

Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study

Many inherited metabolic diseases (IMD)… More
Mar 02, 2020 Scientific News

Management of Neuroinflammatory Responses to AAV-Mediated Gene Therapies for Neurodegenerative Diseases

Recently, adeno-associated virus… More
Feb 17, 2020 Funded Research

Psychometric properties of the Friedreich Ataxia Rating Scale

This study aims at investigating the… More
Feb 17, 2020 Scientific News

On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability

Expansions of simple tandem repeats are… More
Feb 10, 2020 Scientific News

The Potential of the Novel NAD+ Supplementing Agent, SNH6, as a Therapeutic Strategy for the Treatment of Friedreich's Ataxia

In this study, the activity of the… More
Feb 10, 2020 Scientific News

Ocular Involvement in Friedreich Ataxia Patients and its Relationship with Neurological Disability, a Follow-up Study

This study compared functional and… More
Feb 10, 2020 Scientific News

The NRF2 Signaling Network Defines Clinical Biomarkers and Therapeutic Opportunity in Friedreich's Ataxia

Mounting evidence suggests that… More
Feb 03, 2020 Scientific News

Mechanisms of Mitochondrial Iron-Sulfur Protein Biogenesis

Work over the past two decades has… More
Feb 03, 2020 Scientific News

Developing an objective evaluating system to quantify the degree of upper limb movement impairment in patients with severe Friedreich's ataxia

The purpose of this study was to… More
Feb 03, 2020 Scientific News

NfL and pNfH are increased in Friedreich's ataxia

The objective of this study was to… More
Jan 27, 2020 Funded Research

Correlation of Visual Quality of Life With Clinical and Visual Status in Friedreich Ataxia

The primary objective of this study was… More
Jan 27, 2020 Funded Research

Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue

Brown adipose tissue (BAT) is a… More
Jan 27, 2020 Funded Research

Imaging neuronal activity in the central and peripheral nervous systems using new Thy1.2-GCaMP6 transgenic mouse lines

The genetically encoded calcium (Ca2+)… More
Jan 20, 2020 Funded Research

An Instrumented Measurement Scheme for the Assessment of Upper Limb Function in Individuals with Friedreich Ataxia

Continuous and objective assessment is… More
Jan 20, 2020 Funded Research

Predictors of loss of ambulation in Friedreich's ataxia

Friedreich's ataxia (FRDA) is a… More
Jan 20, 2020 Funded Research

Frataxin Structure and Function

Mammalian frataxin is a small… More
Jan 20, 2020 Scientific News

Safety and Efficacy of Interferon γ in Friedreich's Ataxia

This study reports the results of an… More
Jan 20, 2020 Scientific News

Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival

A microarray analysis performed on FRDA… More
Jan 14, 2020 Funded Research

Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort

This study assessed the Health Related… More
Jan 14, 2020 Funded Research

Multiple mechanisms underpin cerebral and cerebellar white matter deficits in Friedreich ataxia: The IMAGE-FRDA study

This study examined the relative… More
Jan 14, 2020 Scientific News

Large-scale contractions of Friedreich's ataxia GAA repeats in yeast occur during DNA replication due to their triplex-forming ability

In somatic tissues of Friedreich's… More
Jan 14, 2020 Scientific News

MDA Awards Venture Philanthropy Funding of More Than $1M to AavantiBio to Develop Gene-Targeting Therapy for Friedreich's Ataxia

NEW YORK and GAINESVILLE, Fla., Jan.… More
Jan 14, 2020 Scientific News

Mammalian iron-sulfur cluster biogenesis: Recent insights into the roles of frataxin, acyl carrier protein and ATPase-mediated transfer to recipient proteins.

The recently solved crystal structures… More
Jan 09, 2020 Scientific News

Retrotope Expands its Drug Pipeline with the First Dosing of RT001 in patients with Friedreich’s ataxia (FA)

Three clinical trials centers now open… More
Jan 06, 2020 Funded Research

Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA

This study assessed longitudinal… More
Jan 06, 2020 Scientific News

Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance

Relative frequency of hereditary… More
Dec 31, 2019 Funded Research

Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia

In this study, the authors examined the… More
Dec 31, 2019 Scientific News

Nanoscopic X-ray imaging and quantification of the iron cellular architecture within single fibroblasts of Friedreich's ataxia patients

In this study, the nanoscale iron… More
Dec 23, 2019 Funded Research

Age of onset determines intrinsic functional brain architecture in Friedreich ataxia

In this study the authors used… More
Dec 19, 2019 Scientific News

A new tool to determine the cellular metabolic landscape: nanotechnology to the study of Friedreich's ataxia

Understanding the cell response to… More
Dec 19, 2019 Funded Research

Electrophysiological evidence for limited progression of the proprioceptive impairment in Friedreich ataxia

Cortico-kinematic coherence (CKC) is… More
Dec 19, 2019 Scientific News

Neurochemical profiles in hereditary ataxias: A meta-analysis of Magnetic Resonance Spectroscopy studies

Magnetic resonance spectroscopy (MRS)… More
Dec 19, 2019 Scientific News

Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich's ataxia, and other rare iron-related diseases

Hackathons are an effective avenue for… More
Dec 18, 2019 Supported Research

Chondrial Therapeutics Announces Dosing of First Patients in Phase 1 Clinical Program of CTI-1601 for Treatment of Friedreich’s Ataxia

CTI-1601 granted Rare Pediatric Disease… More
Dec 18, 2019 Scientific News

Zafgen and Chondrial Therapeutics Announce Definitive Merger Agreement

Creates clinical-stage company focused… More
Dec 16, 2019 Supported Research

Exicure Announces First Neurological Development Program in Friedreich’s Ataxia and Expands Scientific Advisory Board

- Exicure to collaborate with… More
Dec 09, 2019 Scientific News

Effects of tocotrienol supplementation in Friedreich's ataxia: A model of oxidative stress pathology

In this study, the authors aimed at… More
Dec 09, 2019 Scientific News

Friedreich's Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance

Currently, Friedreich's ataxia… More
Dec 02, 2019 Funded Research

Mitochondrial dysfunction in neurons in Friedreich's ataxia

Based on clinical evidence, the… More
Dec 02, 2019 Scientific News

Pediatric Neuromuscular Disorders

This review focuses on neuromuscular… More
Dec 02, 2019 Scientific News

N-Terminomics/TAILS Profiling of Macrophages after Chemical Inhibition of Legumain

Legumain (asparaginyl endopeptidase) is… More
Dec 02, 2019 Scientific News

Possible Mechanisms of Biological Effects Observed in Living Systems during 2H/1H Isotope Fractionation and Deuterium Interactions with Other Biogenic Isotopes

This article presents the original… More
Nov 18, 2019 Scientific News

Left ventricular structural and functional changes in Friedreich ataxia - Relationship with body size, sex, age and genetic severity

Although a concentric pattern of left… More
Nov 11, 2019 Scientific News

Global Ataxia Advocacy Organizations Unite to Host International Ataxia Research Conference in Washington, DC

On November 14th-16th, the Friedreich’s… More
Nov 11, 2019 Funded Research

Orphan Drugs In Development For The Treatment Of Friedreich's Ataxia: Focus On Omaveloxolone

Nrf2 activators such as omaveloxolone… More
Nov 11, 2019 Funded Research

Temporal but not spatial dysmetria relates to disease severity in FA

Features of Friedreich's Ataxia (FA)… More
Nov 11, 2019 Scientific News

Quantitative Proteomic and Network Analysis of Differentially Expressed Proteins in PBMC of Friedreich's Ataxia (FRDA) Patients

Given the ongoing drug trials in… More
Nov 11, 2019 Scientific News

Refinement of protein Fe(II) binding characteristics utilizing a competition assay exploiting small molecule ferrous chelators

Iron is the most prevalent metal in… More
Nov 11, 2019 Scientific News

Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells

Succinate dehydrogenase (SDH)… More
Nov 11, 2019 Scientific News

Speech and Language Disorders in Friedreich Ataxia: Highlights on Phenomenology, Assessment, and Therapy

Speech and language disorders are… More
Nov 04, 2019 Funded Research

The Structure of the Human ACP-ISD11 Heterodimer

In recent years the mammalian… More
Nov 04, 2019 Scientific News

Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion

To try to identify human Friedreich’s… More
Nov 04, 2019 Scientific News

The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype

Charcot-Marie-Tooth (CMT) disease is… More
Oct 28, 2019 Scientific News

Targeting NRF2 for the Treatment of Friedreich's Ataxia: A Comparison among Drugs

NRF2 (Nuclear factor Erythroid… More
Oct 28, 2019 Scientific News

Cerebellum and cognition in Friedreich ataxia: a voxel-based morphometry and volumetric MRI study

The aim of this study was to… More
Oct 28, 2019 Scientific News

Predictors of Left Ventricular Dysfunction in Friedreich's Ataxia in a 16-Year Observational Study

In Friedreich's ataxia (FRDA) lower… More
Oct 21, 2019 Scientific News

Induced pluripotent stem cells-derived neurons from patients with Friedreich ataxia exhibit differential sensitivity to resveratrol and nicotinamide

Translation of pharmacological results… More
Oct 17, 2019 Scientific News

Minoryx Therapeutics receives FDA Orphan Drug Designation for leriglitazone in Friedreich’s Ataxia

Leriglitazone (MIN-102) is a novel,… More
Oct 14, 2019 Supported Research

Reata Announces Positive Topline Results from the MOXIe Registrational Trial of Omaveloxolone in Patients with Friedreich’s Ataxia

ACHIEVED PRIMARY ENDPOINT OF… More
Oct 10, 2019 Funded Research

Primary Cultures of Pure Embryonic Dorsal Root Ganglia Sensory Neurons as a New Cellular Model for Friedreich's Ataxia

Primary neuronal cultures represent an… More
Oct 10, 2019 Funded Research

Changes detected in swallowing function in Friedreich ataxia over 12 months

Dysphagia (swallowing impairment) is… More
Oct 10, 2019 Scientific News

SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia

SINEUPs are natural and synthetic… More
Oct 08, 2019 Scientific News

Minoryx Therapeutics completes enrollment in FRAMES phase 2 trial with leriglitazone in Friedreich's Ataxia

Recruitment of 39 patients in… More
Oct 01, 2019 Scientific News

Health-related quality of life and depressive symptoms in Friedreich ataxia

The aim of the present study was to… More
Sep 24, 2019 Scientific News

Unique roles of iron and zinc binding to the yeast Fe-S cluster scaffold assembly protein "Isu1"

Mitochondrial Fe-S cluster biosynthesis… More
Sep 24, 2019 Scientific News

Mechanism of activation of the human cysteine desulfurase complex by frataxin

The function of frataxin (FXN) has… More
Sep 12, 2019 Scientific News

Two new Pfizer-coauthored studies validate Novoheart’s pioneering human bioengineered heart tissues and chambers for improving drug development

Published in the July 2019 issue of… More
Sep 12, 2019 Scientific News

Scoliosis in Patients With Friedreich Ataxia: Results of a Consecutive Prospective Series

This is a single center (Robert Debré… More
Sep 12, 2019 Scientific News

Friedreich ataxia- pathogenesis and implications for therapies

This is a review article focusing on… More
Sep 12, 2019 Scientific News

The Working Life of People with Degenerative Cerebellar Ataxia

The aim of the present study was to… More
Aug 28, 2019 Scientific News

Backbone resonance assignments and secondary structure of the apo-Drosophila melanogaster frataxin homolog (Dfh)

Frataxin plays an essential role in… More
Aug 28, 2019 Scientific News

Application of Quantitative Motor Assessments in Friedreich Ataxia and Evaluation of Their Relation to Clinical Measures

As common clinical measures for… More
Aug 28, 2019 Scientific News

Oral mobility reflects rate of progression in advanced Friedreich's ataxia

The objective was to identify a… More
Aug 23, 2019 Funded Research

Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich's ataxia cardiomyocytes

Although FRDA symptoms typically… More
Aug 21, 2019 Funded Research

Folding and Dynamics are Strongly pH-Dependent in a Psychrophile Frataxin

Protein dynamics, folding, and… More
Aug 21, 2019 Scientific News

Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich's Ataxia Neural Stem Cells

This paper describes impairments in… More
Aug 13, 2019 Scientific News

Physiologically relevant reconstitution of iron-sulfur cluster biosynthesis uncovers persulfide-processing functions of ferredoxin-2 and frataxin

Iron-sulfur (Fe-S) clusters are… More
Jul 31, 2019 Funded Research

Exploring iron-binding to human frataxin and to selected Friedreich ataxia mutants by means of NMR and EPR spectroscopies

The neurodegenerative disease… More
Jul 31, 2019 Scientific News

Low frataxin mRNA expression is associated with inflammation and oxidative stress in patients with type 2 diabetes

The mitochondrial protein frataxin is… More
Jul 31, 2019 Scientific News

REGENXBIO Announces New License Agreement with Pfizer for the Treatment of Friedreich's Ataxia Using NAV® AAV9 Vector

ROCKVILLE, Md., July 31, 2019… More
Jul 19, 2019 Funded Research

Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia

Friedreich ataxia (FA), the most common… More
Jul 18, 2019 Funded Research

New developments in pharmacotherapy for Friedreich ataxia

Current and emerging therapies for… More
Jul 13, 2019 Funded Research

The current state of biomarker research for Friedreich's ataxia: a report from the 2018 FARA biomarker meeting

The 2018 FARA Biomarker Meeting… More
Jul 13, 2019 Scientific News

Correlation between frataxin expression and contractility revealed by in vitro Friedreich's ataxia cardiac tissue models engineered from human pluripotent stem cells

This paper describes the generation of… More
Jul 08, 2019 Funded Research

Evaluation of antibodies for western blot analysis of frataxin protein isoforms

Frataxin is the protein that is… More
Jun 28, 2019 Scientific News

Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience

Friedreich ataxia (FA) is caused by a… More
Jun 25, 2019 Scientific News

FARA Job Posting: Associate Director of Research

FARA is seeking a full time Associate… More
Jun 18, 2019 Funded Research

Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia

This group used magnetoencephalography… More
Jun 18, 2019 Funded Research

Open label Pilot Study of Oral Methylprednisolone for the Treatment of Patients with Friedreich Ataxia

This group assessed the effect of… More
Jun 18, 2019 Scientific News

Deuterated Polyunsaturated Fatty Acids Reduce Oxidative Stress and Extend the Lifespan of C. elegans

Chemically reinforced essential fatty… More
Jun 10, 2019 Funded Research

Altered neocortical tactile but preserved auditory early change detection responses in Friedreich ataxia

This group used magnetoencephalography… More
Jun 09, 2019 Scientific News

Young Investigators: Call for Abstracts, 12th Annual FA Symposium

Young investigators are invited to… More
Jun 06, 2019 Funded Research

Microvascular pathology in Friedreich cardiomyopathy

Heart disease is an integral part of… More
Jun 05, 2019 Scientific News

p53 Binds Preferentially to Non-B DNA Structures Formed by the Pyrimidine-Rich Strands of GAA·TTC Trinucleotide Repeats Associated with Friedreich's Ataxia

Expansions of trinucleotide repeats are… More
Jun 05, 2019 Funded Research

Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia

High throughput screening of clinically… More
Jun 05, 2019 Funded Research

Efficient Electroporation of Neuronal Cells Using Synthetic Oligonucleotides: Identifying Duplex RNA and Antisense Oligonucleotide Activators of Human Frataxin Expression

Oligonucleotide drugs are experiencing… More
May 24, 2019 Supported Research

Pharmacokinetics and pharmacodynamics of the novel Nrf2 activator omaveloxolone in primates

Omaveloxolone is a potential therapy… More
May 21, 2019 Scientific News

Erythropoietin and Friedreich Ataxia: Time for a Reappraisal?

FA is a rare neurological disorder due… More
May 15, 2019 Scientific News

Peripapillary retinal nerve fibre layer thickness in Friedreich's ataxia: a biomarker for trials?

This letter describes data comparing… More
May 05, 2019 Scientific News

New Insights into the Hepcidin-Ferroportin Axis and Iron Homeostasis in iPSC-Derived Cardiomyocytes from Friedreich's Ataxia Patient

Iron balance in the cardiac tissue as… More
May 02, 2019 Scientific News

Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis

Frataxin participates in the… More
Apr 27, 2019 Funded Research

Probing the multifactorial source of hand dysfunction in Friedreich ataxia

Friedreich ataxia (FRDA) has a… More
Apr 26, 2019 Funded Research

Identification of a novel missense mutation in Friedreich's ataxia -FXNW 168R

Friedreich's ataxia, characterized by… More
Apr 14, 2019 Scientific News

Mechanism of frataxin "bypass" in human iron-sulfur cluster biosynthesis with implications for Friedreich's ataxia

In humans, mitochondrial iron-sulfur… More
Apr 01, 2019 Funded Research

Randomized, double-blind, placebo-controlled study of interferon-γ 1b in Friedreich Ataxia

In vitro, in vivo, and open-label… More
Apr 01, 2019 Funded Research

Therapeutic Prospects for Friedreich's Ataxia

Friedreich's ataxia (FRDA) is a… More
Mar 28, 2019 Scientific News

StrideBio and Takeda Sign Collaboration and License Agreement to Advance Novel Gene Therapies for Neurological Diseases

DURHAM, N.C., March 28, 2019… More
Mar 20, 2019 Scientific News

Patient reported outcomes in Friedreich's Ataxia after withdrawal from Idebenone

Idebenone is a potent antioxidant which… More
Mar 18, 2019 Scientific News

Assessment of cell-free levels of iron and copper in patients with Friedreich's ataxia

Insufficient frataxin levels in FA… More
Mar 15, 2019 Scientific News

Inherited Ataxia and Intrathecal Baclofen for the Treatment of Spasticity and Painful Spasms

Intrathecal baclofen (ITB) treatment is… More
Mar 12, 2019 Scientific News

The role of robotic gait training and tDCS in Friedrich ataxia rehabilitation: A case report

In patients with FA, physiotherapy is… More
Mar 06, 2019 Funded Research

The Role of Iron in Friedreich's Ataxia: Insights From Studies in Human Tissues and Cellular and Animal Models

Friedreich's ataxia (FA) is a rare… More
Mar 05, 2019 Funded Research

Progress in understanding Friedreich's ataxia using human induced pluripotent stem cells

Neuronal and cardiac cells are primary… More
Feb 27, 2019 Funded Research

C-Path and FARA announce the launch of the FA Integrated Clinical Database

Critical Path Institute's (C-Path) Data… More
Feb 27, 2019 Scientific News

Minoryx Therapeutics receives approval from Spanish regulatory agency to initiate Phase 2 Study in Friedreich's Ataxia

Mataró, Barcelona, Spain and Charleroi,… More
Feb 25, 2019 Scientific News

Guidelines on the diagnosis and management of the progressive ataxias

The progressive ataxias are a group of… More
Feb 25, 2019 Scientific News

In Vitro interaction between yeast frataxin and superoxide dismutases: Influence of mitochondrial metals

Friedreich's ataxia results from a… More
Feb 21, 2019 Scientific News

The role of mitochondrial labile iron in Friedreich's ataxia skin fibroblasts sensitivity to ultraviolet A

Mitochondrial labile iron (LI) is a big… More
Feb 18, 2019 Scientific News

Pattern of Cerebellar Atrophy in Friedreich's Ataxia-Using the SUIT Template

To date, imaging studies have revealed… More
Feb 15, 2019 Scientific News

Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich's Ataxia Mouse Model

A major feature of FRDA is frataxin… More
Feb 04, 2019 Scientific News

Heart disease in Friedreich's ataxia

Friedreich's ataxia (FRDA), which… More
Jan 30, 2019 Scientific News

Neurocrine Biosciences and Voyager Therapeutics Form Strategic Development and Commercialization Collaboration for Parkinson’s Disease and Friedreich’s Ataxia

SAN DIEGO and CAMBRIDGE, Mass., Jan.… More
Jan 22, 2019 Scientific News

OGTT is recommended for glucose homeostasis assessments in Friedreich ataxia

Diabetes is a common complication of… More
Jan 14, 2019 Funded Research

Ferroptosis as a novel therapeutic target for Friedreich's ataxia

Friedreich ataxia (FRDA) is a… More
Jan 14, 2019 Scientific News

Structural and functional characterization of a frataxin from a thermophilic organism

Frataxins form an interesting family of… More
Jan 10, 2019 Scientific News

Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia

In FA patients, the dentate nuclei of… More
Jan 10, 2019 Scientific News

Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia

Given that levels of residual frataxin… More
Jan 08, 2019 Funded Research

Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia

Friedreich ataxia (FRDA) is an… More
Dec 28, 2018 Funded Research

GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich Ataxia cellular models

Friedreich ataxia (FRDA) is an… More
Dec 17, 2018 Funded Research

Transcriptional profiling of isogenic Friedreich ataxia neurons and effect of an HDAC inhibitor on disease signatures

Friedreich ataxia (FRDA) is a… More
Dec 17, 2018 Scientific News

Correction of half the cardiomyocytes fully rescue Friedreich Ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms

Cardiac failure constitutes the main… More
Dec 10, 2018 Scientific News

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare

In Friedreich ataxia the deficiency of… More
Dec 03, 2018 Scientific News

Depressive symptoms in Friedreich ataxia

The aim of this study was to study the… More
Nov 26, 2018 Scientific News

FAST-1 antisense RNA epigenetically alters FXN expression

Friedreich ataxia (FRDA) is a… More
Nov 20, 2018 Funded Research

Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes

Frataxin is a highly conserved protein… More
Nov 20, 2018 Scientific News

Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia

Friedreich ataxia (FA) is a rare… More
Nov 20, 2018 Scientific News

Oligonucleotides Hold Promise as a Therapy for Friedreich's Ataxia

Friedreich's ataxia currently is… More
Nov 20, 2018 Scientific News

Voyager Therapeutics Announces Additional Data at the American Society of Gene and Cell Therapy 2018 Annual Meeting

CAMBRIDGE, Mass., May 18, 2018 (GLOBE… More
Nov 15, 2018 Scientific News

Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia

Objective Previous studies have… More
Nov 15, 2018 Scientific News

Plasma Markers of Neurodegeneration Are Raised in Friedreich's Ataxia

Friedreich's ataxia (FRDA) is the most… More
Oct 26, 2018 Scientific News

Intraepidermal Nerve Fiber Density in Friedreich's Ataxia

FRDA affects primarily the peripheral… More
Oct 22, 2018 Funded Research

Calcium Deregulation: Novel Insights to Understand Friedreich's Ataxia Pathophysiology

Friedreich's Ataxia (FRDA) is a… More
Oct 17, 2018 Scientific News

Developmental and Neurodegenerative Damage in Friedreich Ataxia

Friedreich's ataxia (FRDA) is the most… More
Oct 09, 2018 Scientific News

Corneal Confocal Microscopy: Neurologic Disease Biomarker in Friedreich's Ataxia

This group evaluated corneal confocal… More
Oct 08, 2018 Funded Research

Phenothiazine antioxidants increase mitochondrial biogenesis and frataxin levels in Friedreich's ataxia cells

Friedreich's ataxia (FRDA) is a… More
Oct 08, 2018 Scientific News

Automated functional upper limb evaluation of patients with Friedreich ataxia using serious games rehabilitation exercises

Friedreich ataxia (FRDA) is a disease… More
Sep 24, 2018 Scientific News

Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon

Friedreich ataxia is a… More
Sep 24, 2018 Scientific News

Functional and Structural Brain Damage in Friedreich's Ataxia

Friedreich's ataxia (FRDA) is a rare… More
Sep 19, 2018 Funded Research

Chemical synthesis of lipophilic methylene blue analogues which increase mitochondrial biogenesis and frataxin levels

As part of an ongoing program to… More
Sep 19, 2018 Scientific News

Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia

This study set out to evaluate… More
Sep 10, 2018 Scientific News

Increased Frataxin Expression Induced in Friedreich Ataxia Cells by Platinum TALE-VP64s or Platinum TALE-SunTag

Frataxin gene (FXN) expression is… More
Aug 27, 2018 Scientific News

Test-retest reliability of an instrumented electronic walkway system (GAITRite) for the measurement of spatio-temporal gait parameters in young patients with Friedreich's ataxia

Friedreich ataxia (FRDA) affects the… More
Aug 15, 2018 Scientific News

Two funded post-doctoral positions are available in the laboratory of Hélène Puccio at the IGBMC in Strasbourg.

Please see the PDF below for further… More
Aug 14, 2018 Scientific News

Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)

This paper describes a systematic… More
Aug 06, 2018 Funded Research

Activating frataxin expression by single-stranded siRNAs targeting the GAA repeat expansion

Friedreich's ataxia (FRDA) is an… More
Aug 02, 2018 Funded Research

Novel Nrf2-Inducer Prevents Mitochondrial Defects and Oxidative Stress in Friedreich's Ataxia Models

In Friedreich's Ataxia, increased… More
Aug 02, 2018 Funded Research

Longitudinal analysis of contrast acuity in Friedreich ataxia

In the Friedreich Ataxia-Clinical… More
Jul 31, 2018 Scientific News

RNA-Dependent Epigenetic Silencing Directs Transcriptional Downregulation Caused by Intronic Repeat Expansions

Transcriptional downregulation caused… More
Jul 23, 2018 Scientific News

Zinc(II) binding on human wild-type ISCU and Met140 variants modulates NFS1 desulfurase activity

Human de novo iron-sulfur (Fe-S)… More
Jul 20, 2018 Scientific News

PTC Therapeutics to acquire Agilis Biotherapeutics

FARA is pleased to share news that one… More
Jul 15, 2018 Scientific News

Young Investigators, Call for Abstracts for the 11th Annual Friedreich's Ataxia Symposium

Young investigators are invited to… More
Jul 11, 2018 Scientific News

Impact of Drosophila Models in the Study and Treatment of Friedreich's Ataxia

Drosophila melanogaster has been for… More
Jul 09, 2018 Scientific News

Autonomic function testing in Friedreich's ataxia

Friedreich ataxia (FRDA) is an… More
Jul 09, 2018 Scientific News

Structural characteristics of the central nervous system in Friedreich ataxia: an in vivo spinal cord and brain MRI study

Friedreich ataxia (FRDA) is a… More
Jun 22, 2018 Scientific News

Cognitive and functional connectivity alterations in Friedreich's ataxia

The aim of this study was to perform… More
Jun 21, 2018 Funded Research

Understanding Recent Publication on the Effects of AAV Gene Therapy in a New Mouse Model

This month, Dr. Helene Puccio’s lab at… More
Jun 15, 2018 Funded Research

Identification of cardioprotective drugs by medium-scale in vivo pharmacological screening on a Drosophila cardiac model of Friedreich's ataxia

Friedreich's ataxia (FA) is caused by… More
Jun 04, 2018 Funded Research

Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia

Friedreich ataxia (FA) is a rare… More
Jun 01, 2018 Funded Research

Drosophila melanogaster Models of Friedreich's Ataxia

Friedreich's ataxia (FRDA) is a rare… More
May 30, 2018 Scientific News

Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model

The neurodegenerative disease… More
May 30, 2018 Scientific News

The importance of central auditory evaluation in Friedreich's ataxia

Objective To assess central auditory… More
May 24, 2018 Funded Research

Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients

Transcriptional changes in Friedreich's… More
May 21, 2018 Funded Research

Lipophilic methylene blue analogues enhance mitochondrial function and increase frataxin levels in a cellular model of Friedreich's ataxia

Friedreich's ataxia (FRDA) is an… More
May 18, 2018 Scientific News

Diabetes mellitus in Friedreich Ataxia: A case series of 19 patients from the German-Austrian diabetes mellitus registry

Friedreich ataxia (FRDA) is a… More
Apr 09, 2018 Funded Research

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia

This study was set up to determine how… More
Apr 09, 2018 Scientific News

Randomized, clinical trial of RT001: Early signals of efficacy in Friedreich's ataxia

RT001 is a deuterated ethyl linoleate… More
Apr 09, 2018 Scientific News

Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia

In patients with Friedreich ataxia… More
Mar 26, 2018 Funded Research

Identification of p38 MAPK as a novel therapeutic target for Friedreich's ataxia

Friedreich ataxia (FRDA) is an… More
Mar 26, 2018 Scientific News

Iron regulatory protein deficiency compromises mitochondrial function in murine embryonic fibroblasts

Iron is essential for growth and… More
Mar 23, 2018 Scientific News

Mitofusin-Dependent ER Stress Triggers Glial Dysfunction and Nervous System Degeneration in a Drosophila Model of Friedreich's Ataxia

Friedreich's ataxia (FRDA) is caused by… More
Mar 16, 2018 Funded Research

GAA•TTC repeat expansion in human cells is mediated by mismatch repair complex MutLγ and depends upon the endonuclease domain in MLH3 isoform one

DNA repeat expansion underlies dozens… More
Mar 16, 2018 Scientific News

Pitfalls in molecular diagnosis of Friedreich ataxia

Freidreich ataxia (FRDA) is the most… More
Mar 16, 2018 Scientific News

Bone marrow transplantation stimulates neural repair in Friedreich's ataxia mice

OBJECTIVES:Friedreich's ataxia is an… More
Mar 08, 2018 Scientific News

Biophysical characterisation of the recombinant human frataxin precursor

Friedreich's ataxia is a disease caused… More
Mar 07, 2018 Scientific News

Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich's ataxia patients

Friedreich's ataxia, an autosomal… More
Mar 05, 2018 Funded Research

Progress in the treatment of Friedreich ataxia

Friedreich ataxia (FRDA) is a… More
Feb 16, 2018 Funded Research

Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy

Friedreich's ataxia (FA) is an… More
Feb 16, 2018 Scientific News

RNA-DNA hybrids promote the expansion of Friedreich's ataxia (GAA)n repeats via break-induced replication

Expansion of simple DNA repeats is… More
Feb 08, 2018 Scientific News

Serum uric acid in Friedreich Ataxia

Serum uric acid (UA) is a circulating… More
Jan 18, 2018 Funded Research

Activation of Frataxin Protein Expression by Antisense Oligonucleotides Targeting the Mutant Expanded Repeat

Friedreich's Ataxia (FA) is an… More
Jan 17, 2018 Scientific News

Join Reata WebEx. Get updates on the MOXIe Phase 2 Study

Please join Jennifer Farmer, Executive… More
Jan 15, 2018 Scientific News

Quantitative proteomics in Friedreich's ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis

Friedreich's ataxia (FRDA) represents… More
Jan 15, 2018 Scientific News

The role of Nrf2 signaling in counteracting neurodegenerative diseases

The transcription factor Nrf2 (nuclear… More
Jan 15, 2018 Scientific News

Effect Of Diazoxide on Friedreich Ataxia Models

Friedreich ataxia (FRDA) is an… More
Jan 15, 2018 Scientific News

Emotion Recognition and Psychological Comorbidity in Friedreich's Ataxia

Friedreich's ataxia (FRDA) is an… More
Jan 02, 2018 Scientific News

Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements

BACKGROUND: Sensitive outcome measures… More
Dec 23, 2017 Funded Research

Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia

Friedreich's ataxia (FA) is an… More
Dec 21, 2017 Funded Research

Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia

Friedreich ataxia (FRDA) is an… More
Dec 21, 2017 Funded Research

Somatic instability of the expanded GAA repeats in Friedreich's ataxia

Friedreich's ataxia (FRDA) is a genetic… More
Dec 20, 2017 Funded Research

Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia

Friedreich's ataxia (FRDA), the most… More
Dec 11, 2017 Scientific News

Mitochondrial pore opening and loss of Ca2+ exchanger NCLX levels occur after frataxin depletion

Frataxin-deficient neonatal rat… More
Dec 05, 2017 Scientific News

The role of oxidative stress in Friedreich's ataxia

Oxidative stress and increase in the… More
Dec 04, 2017 Scientific News

Synthetic transcription elongation factors license transcription across repressive chromatin

Releasing a paused RNA polymerase II… More
Dec 04, 2017 Funded Research

C-Path and FARA announce collaborative data aggregation project for Friedreich’s ataxia

Tucson, AZ, and Downingtown, PA —… More
Nov 15, 2017 Funded Research

Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers

Friedreich's ataxia (FRDA) is an… More
Nov 15, 2017 Funded Research

Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia

Friedreich ataxia (FRDA), the most… More
Nov 15, 2017 Scientific News

Insights on the conformational dynamics of human frataxin through modifications of loop-1

Human frataxin (FXN) is a highly… More
Nov 15, 2017 Scientific News

Peripheral Nerve Ultrasound in Friedreich's Ataxia

Sensory impairment in Friedreich's… More
Nov 01, 2017 Scientific News

Personality and Neuropsychological Profiles in Friedreich Ataxia

Friedreich ataxia, an autosomal… More
Oct 31, 2017 Scientific News

Agilis Biotherapeutics Announces Orphan Product Designation Approval in Europe for the Treatment of Friedreich Ataxia

First Gene Therapy Treatment Candidate… More
Oct 30, 2017 Funded Research

Can rehabilitation improve the health and well-being in Friedreich's ataxia: a randomized controlled trial?

OBJECTIVE: To determine the… More
Oct 30, 2017 Scientific News

Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia

Friedreich's ataxia (FRDA) is an… More
Oct 24, 2017 Scientific News

Friedreich's ataxia: clinical features, pathogenesis and management

This paper is a literature search using… More
Oct 24, 2017 Scientific News

Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia

Oxidative stress is actively involved… More
Oct 23, 2017 Scientific News

Reata Announces First Patient Enrolled in Part 2 of MOXIe Study of Omaveloxolone for the Treatment of Friedreich’s Ataxia

Reata Pharmaceuticals today announced… More
Oct 19, 2017 Scientific News

Friedreich Ataxia: Developmental Failure of the Dorsal Root Entry Zone

Dorsal root ganglia, dorsal roots (DR),… More
Oct 19, 2017 Scientific News

Sustained FXN expression in dorsal root ganglia from a nonreplicative genomic HSV-1 vector

With the aim of developing a gene… More
Oct 18, 2017 Scientific News

BioMarin Highlights Breadth of Innovative Development Pipeline at R&D Day on Oct 18th in New York

SAN RAFAEL, Calif., Oct. 18, 2017… More
Oct 13, 2017 Funded Research

CRISPR Therapeutics Awarded Grant from FARA to Collaborate with University of Alabama at Birmingham on Gene-edited Treatments for Friedreich’s Ataxia

ZUG, Switzerland and CAMBRIDGE, Mass.,… More
Oct 09, 2017 Funded Research

IARC 2017 Follow Up

The FARA Team returned from the… More
Oct 09, 2017 Scientific News

The Subclinical Cardiomyopathy of Friedreich's Ataxia in a Pediatric Population

Identification of a subclinical… More
Oct 06, 2017 Scientific News

FDA awards six grants for natural history studies in rare diseases

The U.S. Food and Drug Administration… More
Oct 06, 2017 Scientific News

Frataxin-deficient neurons and mice models of Friedreich ataxia are improved by TAT-MTScs-FXN treatment

Friedreich ataxia (FA) is a rare… More
Oct 04, 2017 Scientific News

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia

BACKGROUND: Pelvic symptoms are… More
Oct 03, 2017 Scientific News

Agilis Biotherapeutics Updates on Progress in CNS Gene Therapy Programs

Agilis Therapeutics announced the… More
Sep 25, 2017 Scientific News

Molecular Alterations in a Mouse Cardiac Model of Friedreich's Ataxia: An Impaired Nrf2 Response Mediated via Up-Regulation of Keap1 and Activation of the Gsk3β Axis

Nuclear factor-erythroid 2-related… More
Sep 21, 2017 Funded Research

Lipophilic methylene violet analogues as modulators of mitochondrial function and dysfunction

In an effort to identify methylene blue… More
Sep 17, 2017 Scientific News

Reversible Axonal Dystrophy by Calcium Modulation in Frataxin-Deficient Sensory Neurons of YG8R Mice

Friedreich's ataxia (FRDA) is a… More
Sep 15, 2017 Funded Research

Impact of diabetes in the Friedreich ataxia clinical outcome measures study

OBJECTIVE: Friedreich ataxia (FA) is a… More
Sep 11, 2017 Scientific News

LNA effects on DNA binding and conformation: from single strand to duplex and triplex structures

The anti-gene strategy is based on… More
Sep 11, 2017 Scientific News

Defining the Architecture of the Core Machinery for the Assembly of Fe-S Clusters in Human Mitochondria

Although Fe-S clusters may assemble… More
Aug 31, 2017 Scientific News

Peptide SS-31 upregulates frataxin expression and improves the quality of mitochondria: implications in the treatment of Friedreich ataxia

Friedreich ataxia is a progressive… More
Aug 28, 2017 Scientific News

Overexpression of Drosophila frataxin triggers cell death in an iron-dependent manner

Friedreich ataxia (FRDA) patients… More
Aug 28, 2017 Scientific News

Part 2 of the Phase II MOXIe study (RTA 408 or omaveloxolone)

FARA is excited to share news that Part… More
Aug 22, 2017 Scientific News

Cerebral Abnormalities in Friedreich Ataxia: A Review

Friedreich ataxia (FRDA) is an… More
Aug 22, 2017 Scientific News

Jupiter Orphan Therapeutics Receives Orphan Drug Designation for its Trans-Resveratrol Product JOTROL for Treatment of Friedreich's Ataxia

Jupiter Orphan Therapeutics, Inc.… More
Aug 17, 2017 Funded Research

Selected missense mutations impair frataxin processing in Friedreich ataxia

Frataxin (FXN) is a highly conserved… More
Aug 14, 2017 Scientific News

FDA Confirms That Use of mFARS as Primary Endpoint in Part 2 of the MOXIe Trial Can Support Approval of Omaveloxolone in Friedreich’s Ataxia

Reata Pharmaceuticals, a clinical-stage… More
Aug 10, 2017 Funded Research

Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia

In a small percentage of patients with… More
Aug 08, 2017 Scientific News

Mitochondrial dysfunction in the neuro-degenerative and cardio-degenerative disease, Friedreich's ataxia

Mitochondrial homeostasis is essential… More
Aug 03, 2017 Scientific News

Chondrial Announces FDA Orphan Drug Designation for CTI-1601, a Novel Investigational Technology for the Treatment of Friedreich's Ataxia

Chondrial Therapeutics, Inc., an… More
Jul 21, 2017 Funded Research

Pharmacological therapeutics in Friedreich Ataxia: The present state

Friedreich ataxia (FRDA) is a… More
Jul 21, 2017 Funded Research

Nicotinamide mononucleotide requires SIRT3 to improve cardiac function and bioenergetics in a Friedreich's ataxia cardiomyopathy model

Increasing NAD+ levels by supplementing… More
Jul 20, 2017 Scientific News

Call for Abstracts - 10th Annual Friedreich’s Ataxia Symposium

The Friedreich’s Ataxia Research… More
Jul 16, 2017 Funded Research

AFAF and FARA invite proposals for research projects that advance drug discovery, development of novel biomarkers or improve clinical outcomes in Friedreich’s ataxia patients

On July 1-8, 2017, 20 riders from the… More
Jul 14, 2017 Scientific News

Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich's ataxia patients

MicroRNAs (miRNAs) are noncoding RNAs… More
Jul 12, 2017 Funded Research

How does performance of the Friedreich Ataxia Functional Composite compare to rating scales?

Progression of Friedreich ataxia (FRDA)… More
Jun 07, 2017 Funded Research

Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency

FRDA has both neuronal and non-neuronal… More
Jun 01, 2017 Supported Research

Reata Pharmaceuticals, Inc. Announces Positive Data From Part One of Moxie Trial of Omaveloxolone for Friedreich’s Ataxia

Omaveloxolone Induced Nrf2 and Improved… More
May 31, 2017 Scientific News

Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study

Friedreich ataxia is characterized by… More
May 26, 2017 Funded Research

Progressive mitochondrial protein lysine acetylation and heart failure in a model of Friedreich's ataxia cardiomyopathy

The childhood heart disease of… More
May 26, 2017 Scientific News

Structural signature of classical versus late-onset friedreich's ataxia by Multimodality brain MRI

Friedreich's ataxia (FRDA) is the most… More
May 16, 2017 Scientific News

Erythropoietin and small molecule agonists of the tissue-protective erythropoietin receptor increase FXN expression in neuronal cells in vitro and in Fxn-deficient KIKO mice in vivo

Friedreich's ataxia (FRDA) is a… More
May 11, 2017 Scientific News

Dimethyl Fumarate Mediates Nrf2-dependent Mitochondrial Biogenesis in Mice and Humans

The induction of mitochondrial… More
May 10, 2017 Scientific News

Normalization of timed neuropsychological tests with the PATA rate and nine-hole pegboard tests

Friedrich'a Ataxia patients have… More
May 08, 2017 Scientific News

Dysphagia in Friedreich Ataxia

The objective of the study was to… More
May 01, 2017 Scientific News

Mesenchymal Stem Cell-Derived Factors Restore Function to Human Frataxin-Deficient Cells

Friedreich's ataxia is an inherited… More
Apr 27, 2017 Scientific News

Frataxin Deficiency Impairs Mitochondrial Biogenesis in Cells, Mice and Humans

Friedreich's ataxia (FRDA) is a… More
Apr 17, 2017 Funded Research

Longitudinal gait and balance decline in Friedreich's Ataxia: A pilot study

There is a great need for better… More
Apr 17, 2017 Scientific News

No changes in heme synthesis in human Friedreich´s ataxia erythroid progenitor cells

Friedreich's ataxia (FRDA) is a… More
Mar 21, 2017 Scientific News

FARA Job Posting: Research Director

FARA is seeking a full time Research… More
Mar 20, 2017 Scientific News

Call For Abstracts - 2nd International Ataxia Research Conference

The 2nd International Ataxia Research… More
Mar 14, 2017 Scientific News

Visiting FARA Funded Researchers

Katie Schultz joined the FARA team, as… More
Mar 03, 2017 Scientific News

Rare Disease Day 2017 – Friedreich ataxia: Researchers from Fratagene Therapeutics and the University of Rome “Tor Vergata” identify a new therapeutic target

A few days before the International… More
Feb 24, 2017 Scientific News

Call For Abstracts - 2nd International Ataxia Research Conference

The 2nd International Ataxia Research… More
Feb 24, 2017 Funded Research

Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia

Friedreich ataxia (FRDA) is an… More
Feb 24, 2017 Scientific News

E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia

Friedreich ataxia (FRDA) is a severe… More
Feb 06, 2017 Scientific News

Chondrial Therapeutics Secures Up to $22.6 Million in Series A Financing and Licenses Novel Technology for the Treatment of Friedreich’s Ataxia

Discovered by Dr. Payne while at Wake… More
Jan 24, 2017 Funded Research

Cardiac transplantation in Friedreich Ataxia: Extended follow-up

Friedreich Ataxia (FRDA) is an… More
Jan 19, 2017 Scientific News

Newly Funded FARA Grants

Drug Discovery/Improving Clinical… More
Jan 17, 2017 Funded Research

Friedreich Ataxia: Hypoplasia of Spinal Cord and Dorsal Root Ganglia

Early descriptions of Friedreich's… More
Jan 16, 2017 Scientific News

STEADFAST Background for the Friedreich's Ataxia community

The Friedreich’s Ataxia Research… More
Jan 09, 2017 Scientific News

Cytokine therapy-mediated neuroprotection in a Friedreich's ataxia mouse model

The group looked at the… More
Jan 09, 2017 Scientific News

Deletion of the GAA repeats from the human frataxin gene using the CRISPR-Cas9 system in YG8R-derived cells and mouse models of Friedreich Ataxia

The Friedreich ataxia is a monogenic… More
Jan 09, 2017 Scientific News

Mitochondrial capacity, muscle endurance & low energy in friedreich ataxia

The group evaluated skeletal muscle… More
Dec 14, 2016 Scientific News

Liver Growth Factor (LGF) Upregulates Frataxin Protein Expression and Reduces Oxidative Stress in Friedreich's Ataxia Transgenic Mice

Friedreich's ataxia (FA) is a severe… More
Dec 08, 2016 Scientific News

Horizon Pharma plc Announces Topline Results from Phase 3 Study of ACTIMMUNE® (interferon gamma-1b) in Friedreich's Ataxia

Horizon Pharma plc today announced that… More
Dec 03, 2016 Funded Research

Loss of Frataxin activates the iron/sphingolipid/PDK1/Mef2 pathway in mammals

Friedreich's ataxia (FRDA) is an… More
Nov 16, 2016 Funded Research

Challenges ahead for trials in Friedreich's ataxia

This paper discusses results reported… More
Nov 16, 2016 Scientific News

Disruption of Higher Order DNA Structures in Friedreich's Ataxia (GAA)n Repeats by PNA or LNA Targeting

Expansion of (GAA)n repeats in the… More
Nov 01, 2016 Scientific News

Save The Date - 2017 International Ataxia Research Conference

Oct 31, 2016 Scientific News

Heterologous mitochondrial targeting sequences can deliver functional proteins into mitochondria

Mitochondrial Targeting Sequences… More
Sep 30, 2016 Funded Research

A longitudinal study of the SF-36 version 2 in Friedreich ataxia

OBJECTIVES: The Medical Outcomes Study… More
Sep 21, 2016 Funded Research

Progression of Friedreich ataxia: quantitative characterization over 5 years

OBJECTIVE: Friedreich ataxia (FRDA) is… More
Sep 16, 2016 Funded Research

Retrotope announces Phase I/II Clinical Trial Results of RT001 in Treatment of Friedreich’s ataxia

First-in-human trial achieves safety,… More
Sep 14, 2016 Funded Research

Alleviating GAA repeat induced transcriptional silencing of the Friedreich's ataxia gene during somatic cell reprogramming

Friedreich's ataxia is the most common… More
Sep 09, 2016 Scientific News

Cognition in Friedreich's ataxia: a behavioral and multimodal imaging study

OBJECTIVE: Friedreich's ataxia (FRDA)… More
Sep 07, 2016 Funded Research

Friedreich ataxia induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor

We employed induced pluripotent stem… More
Sep 07, 2016 Scientific News

Functional and Gait Assessment in Children and Adolescents Affected by Friedreich's Ataxia: A One-Year Longitudinal Study

Friedreich's ataxia is the most common… More
Sep 01, 2016 Scientific News

Pharmacological treatments for Friedreich ataxia

OBJECTIVES:To assess the effects of… More
Sep 01, 2016 Scientific News

Neurobehavioral deficits in the KIKO mouse model of Friedreich's ataxia

Friedreich's Ataxia (FA) is a pediatric… More
Aug 23, 2016 Scientific News

Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and Outcomes

Patients with Friedreich ataxia… More
Aug 17, 2016 Funded Research

Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts

Friedreich ataxia (FRDA) is a… More
Aug 17, 2016 Scientific News

Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's Ataxia

To elucidate the pathogenesis of… More
Aug 17, 2016 Scientific News

Architecture of the Human Mitochondrial Iron-Sulfur Cluster Assembly Machinery

Iron-Sulphur clusters, essential… More
Aug 17, 2016 Scientific News

Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA study

Friedreich ataxia (FRDA) is… More
Aug 16, 2016 Scientific News

Voice in Friedreich Ataxia

BACKGROUND: Friedreich Ataxia (FRDA) is… More
Aug 05, 2016 Scientific News

Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia

Thiamine (vitamin B1) is a cofactor of… More
Aug 02, 2016 Scientific News

Agilis Biotherapeutics Announces FDA Orphan Drug Designation for the Treatment of Friedreich’s Ataxia (FA)

Agilis announces today that the United… More
Aug 01, 2016 Scientific News

Pfizer aims to become industry leader in gene therapy with acquisition of Bamboo Therapeutics, Inc.

Pfizer announces today acquisition of… More
Jul 29, 2016 Scientific News

9th Annual Friedreich’s Ataxia Symposium – 2016 CHOP/FARA – Call For Abstracts

The Friedreich’s Ataxia Research… More
Jul 25, 2016 Scientific News

The Replication of Frataxin Gene Is Assured by Activation of Dormant Origins in the Presence of a GAA-Repeat Expansion

It is well known that DNA replication… More
Jul 22, 2016 Scientific News

Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease

Friedreich's ataxia (FRDA), the most… More
Jul 19, 2016 Funded Research

The significance of intercalated discs in the pathogenesis of Friedreich cardiomyopathy

Friedreich ataxia (FRDA) is an… More
Jul 13, 2016 Scientific News

Interferon gamma may improve cardiac function in Friedreich's ataxia cardiomyopathy

This paper reports the effect of… More
Jul 11, 2016 Funded Research

Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia

OBJECTIVE: Friedreich's ataxia (FRDA)… More
Jul 11, 2016 Scientific News

Crystal Structure of Bacillus subtilis Cysteine Desulfurase SufS and Its Dynamic Interaction with Frataxin and Scaffold Protein SufU

The biosynthesis of iron sulfur (Fe-S)… More
Jul 11, 2016 Scientific News

Downregulation of GSTK1 Is a Common Mechanism Underlying Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is… More
Jul 11, 2016 Scientific News

Vestibulo-ocular reflex dynamics with head-impulses discriminates spinocerebellar ataxias types 1, 2 and 3 and Friedreich ataxia

OBJECTIVE: Although the diagnosis of… More
Jun 29, 2016 Funded Research

Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration

Mutations in Frataxin (FXN) cause… More
Jun 15, 2016 Scientific News

Oxidative Stress and altered lipid metabolism in Friedreich ataxia

Friedreich ataxia is a genetic disease… More
Jun 01, 2016 Scientific News

US FDA Grants Orphan Drug Designation for Retrotope’s RT001 in the treatment of Friedreich’s ataxia

First-in-human clinical trial for RT001… More
May 27, 2016 Funded Research

Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia

Friedreich's ataxia (FRDA) is an… More
May 27, 2016 Scientific News

Reata Pharmaceuticals, Inc. Announces Pricing of Initial Public Offering

IRVING, Texas, May 25, 2016 (GLOBE… More
May 25, 2016 Scientific News

Purkinje cell injury, structural plasticity and fusion in patients with Friedreich's ataxia

Purkinje cell pathology is a common… More
May 23, 2016 Scientific News

Plasma circulating cell-free mitochondrial DNA in the assessment of Friedreich's ataxia

Friedreich's ataxia (FRDA) is one of… More
May 20, 2016 Scientific News

Horizon Pharma plc to Acquire Worldwide Rights to Interferon Gamma-1b From Boehringer Ingelheim International GmbH

Also Licenses Rights to Patents and… More
May 19, 2016 Funded Research

Abundance and Significance of Iron, Zinc, Copper, and Calcium in the Hearts of Patients With Friedreich Ataxia

Cardiomyopathy is a frequent cause of… More
May 09, 2016 Scientific News

Meeting Notice: FARA's Biomarker Meeting, Sept 16, 2016

FARA will hold a scientific meeting on… More
May 05, 2016 Scientific News

Job Opportunity: Postdoctoral Fellow Position open at University of Alabama at Birmingham

There is an opening for a postdoctoral… More
May 05, 2016 Funded Research

Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation

Dorsal root ganglia (DRG) are highly… More
May 05, 2016 Scientific News

Horizon Pharma plc Completes Target Enrollment of 90 Patients for Phase 3 Trial of ACTIMMUNE(R) (interferon gamma-1b) for the Treatment of People With Friedreich's Ataxia

DUBLIN, IRELAND -- (Marketwired) --… More
May 02, 2016 Scientific News

Frataxin and the molecular mechanism of mitochondrial iron-loading in Friedreich's ataxia

The mitochondrion is a major site for… More
Apr 26, 2016 Scientific News

Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia

This group has developed a new model of… More
Apr 19, 2016 Scientific News

Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich ataxia

Frataxin deficiency causes Friedreich… More
Apr 18, 2016 Scientific News

Development of an AAV9 coding for a 3XFLAG-TALEfrat#8-VP64 able to increase in vivo the human frataxin in YG8R mice

Artificially designed transcription… More
Apr 15, 2016 Funded Research

Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency

Friedreich ataxia is a progressive… More
Apr 15, 2016 Scientific News

Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia

There is no current approved therapy… More
Apr 12, 2016 Funded Research

Effects of Genetic Severity on Glucose Homeostasis in Friedreich Ataxia

AbstractINTRODUCTION:Friedreich ataxia… More
Apr 04, 2016 Funded Research

Using human pluripotent stem cells to study Friedreich ataxia cardiomyopathy

Friedreich ataxia (FRDA) is the most… More
Apr 04, 2016 Funded Research

Gastrocnemius and soleus spasticity and muscle length in Friedreich's ataxia

Lower limb spasticity compromises the… More
Apr 04, 2016 Scientific News

The Structure of the Complex Between Yeast Frataxin and Ferrochelatase: Characterization and pre-Steady StateReaction of Ferrous Iron Delivery and Heme Synthesis

Frataxin is a mitochondrial… More
Apr 04, 2016 Scientific News

Clinical Experience With Deferiprone Treatment for Friedreich Ataxia

Friedreich ataxia is an inherited… More
Apr 04, 2016 Scientific News

Iron chelation in the treatment of neurodegenerative diseases

Disturbance of cerebral iron regulation… More
Mar 25, 2016 Scientific News

Tissue atrophy and elevated iron concentration in the extrapyramidal motor system in Friedreich ataxia: the IMAGE-FRDA study

Friedreich ataxia (FRDA) results from… More
Mar 24, 2016 Funded Research

Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's AtaxiaExample

Friedreich's ataxia (FRDA) represents a… More
Mar 10, 2016 Scientific News

Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34

An inherited deficiency in the frataxin… More
Mar 07, 2016 Scientific News

Architecture of the Yeast Mitochondrial Iron-Sulfur Cluster Assembly Machinery: The Sub-Complex Formed by the Iron Donor, Yfh1, and the Scaffold, Isu1

The biosynthesis of Fe-S clusters is a… More
Feb 22, 2016 Scientific News

Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor

Friedreich ataxia, the most prevalent… More
Feb 22, 2016 Scientific News

Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia

Friedreich's ataxia (FRDA) is the… More
Feb 19, 2016 Scientific News

Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich's ataxia

In Friedreich's ataxia (FRDA) patients,… More
Feb 19, 2016 Funded Research

Long-term effect of epoetin alfa on clinical and biochemical markers in friedreich ataxia

BACKGROUND: Friedreich ataxia is an… More
Feb 19, 2016 Scientific News

Retrotope advances RT001 in clinical trials to treat Friedreich’s ataxia

Announces open enrollment of highest… More
Feb 09, 2016 Funded Research

Gene transfer of brain derived neurotrophic factor (BDNF) prevents neurodegeneration triggered by frataxin deficiency

This study is an investigation of the… More
Feb 09, 2016 Funded Research

Activating frataxin expression by repeat-targeted nucleic acids

Friedreich's ataxia is a genetic… More
Feb 01, 2016 Scientific News

Avalanche Biotechnologies and Annapurna Therapeutics announce proposed merger

MENLO PARK, CA and PARIS, FRANCE,… More
Jan 26, 2016 Scientific News

Emerging therapies in Friedreich's ataxia

Friedreich's ataxia (FRDA) is an… More
Jan 19, 2016 Funded Research

Friedreich Ataxia and nephrotic syndrome: a series of two patients

This paper describes two patients with… More
Jan 19, 2016 Scientific News

Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes

This study followed one hundred six… More
Jan 19, 2016 Funded Research

Pathology of Intercalated Discs in Friedreich Cardiomyopathy

Friedreich ataxia (FA) is best known… More
Jan 19, 2016 Funded Research

FARA Announces Catabasis Pharmaceuticals as the Recipient of the Kyle Bryant Translational Research Award to Evaluate CAT-4001 as a Potential Therapy for Friedreich’s Ataxia

Downingtown, PA and Cambridge, MA… More
Jan 14, 2016 Scientific News

Update on the STEADFAST study

Update on the STEADFAST study: In June… More
Jan 13, 2016 Scientific News

Chondrial Therapeutics Announces Development Milestone

Chondrial Therapeutics announced today… More
Jan 12, 2016 Scientific News

Jupiter Orphan Therapeutics, Inc. Enters into a Global Licensing Agreement with Murdoch Childrens Research Institute

Jupiter Orphan Therapeutics, Inc. (JOT)… More
Jan 07, 2016 Scientific News

FARA Grant Program Update

FARA continues to fund a robust… More
Jan 05, 2016 Scientific News

Annapurna Therapeutics to Collaborate with Weill Cornell Medicine on Gene-Therapy Portfolio

Annapurna Therapeutics, formerly… More
Jan 04, 2016 Funded Research

Compound heterozygous FXN mutations and clinical outcome in Friedreich ataxia

This is a large international,… More
Jan 03, 2016 Scientific News

Longitudinal magnetic resonance imaging study shows progressive pyramidal and callosal damage in Friedreich's ataxia

The aim of this study was to use MRI to… More
Jan 03, 2016 Scientific News

Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin

The frataxin (FXN) protein exists in… More
Jan 03, 2016 Scientific News

Analyzing the Effects of a G137V Mutation in the FXN Gene

This study analyzes the effects of a… More
Jan 03, 2016 Scientific News

GIFT-1, a phase IIa clinical trial to test the safety and efficacy of IFNγ administration in FRDA patients

Previous studies have shown that… More
Jan 03, 2016 Scientific News

Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA

Using established FRDA human induced… More
Dec 28, 2015 Scientific News

Retrotope RT0001 Clinical Trial Update

Update on the RT0001 study: In August… More
Dec 28, 2015 Scientific News

Reata RTA 408 Clinical Trial Update

Reata launched a two-part study of RTA… More
Nov 19, 2015 Scientific News

Retrotope announces opening of second clinical trial site for enrollment in Friedreich’s ataxia clinical trial.

Retrotope announces the opening of… More
Nov 02, 2015 Scientific News

Funding Announcement: Clinical Trial Readiness for Rare Neurological and Neuromuscular Diseases (U01)

National Institutes of Health, NINDS… More
Sep 29, 2015 Scientific News

A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia

This is a study of cardiac outcomes and… More
Sep 29, 2015 Funded Research

Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus

This publication includes a description… More
Sep 29, 2015 Scientific News

FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia

This study shows that silencing of the… More
Sep 29, 2015 Scientific News

Delayed-onset Friedreich's ataxia revisited

This is a retrospective, multicenter… More
Sep 29, 2015 Scientific News

Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia

This chromosome fragility involves the… More
Sep 10, 2015 Funded Research

Frataxin levels in peripheral tissue in Friedreich ataxia

Have you ever given a blood sample or… More
Sep 10, 2015 Scientific News

Friedreich ataxia in Norway - an epidemiological, molecular and clinical study

Twenty-nine Friedreich ataxia patients… More
Sep 10, 2015 Scientific News

Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients

MtDNA variations and haplogroups could… More
Aug 28, 2015 Funded Research

Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets

An LC-MS-based method was used to… More
Aug 28, 2015 Funded Research

Phenotypic Screening for Friedreich Ataxia Using Random shRNA Selection

A random, short-hairpin-RNA… More
Aug 04, 2015 Scientific News

Key Patent Granted For AAVLife’s Gene-Therapy Program to Treat Cardiomyopathy in Friedreich’s Ataxia

"As this recently issued patent… More
Aug 04, 2015 Scientific News

New funding opportunity announced by NINDS, NIH for neuroscience investigators. LOIs are due Sept 6, 2015 RFA-NS-16-001

The goal of the NINDS Research Program… More
Aug 04, 2015 Scientific News

Call for Abstracts due Friday, Aug. 7th, 2015

Young investigators are invited to… More
Aug 04, 2015 Funded Research

Targeting lipid peroxidation and mitochondrial imbalance in Friedreich's ataxia

Pharmacol Res. 2015 Jul 2. pii:… More
Aug 04, 2015 Scientific News

Mitigation of Myocardial Ischemia-Reperfusion Injury via HIF-1α-Frataxin Signalling

Am J Physiol Heart Circ Physiol. 2015… More
Aug 04, 2015 Scientific News

The Role of Frataxin in Doxorubicin Mediated Cardiac Hypertrophy

Am J Physiol Heart Circ Physiol. 2015… More
Aug 04, 2015 Scientific News

Regional Cerebral Disease Progression in Friedreich's Ataxia: A Longitudinal Diffusion Tensor Imaging Study

J Neuroimaging. 2015 Jul 14. doi:… More
Aug 04, 2015 Scientific News

Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients

Cerebellum. 2015 Jul 15. [Epub ahead of… More
Aug 04, 2015 Scientific News

TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich's Ataxia

PLoS One. 2015 Jul 9;10(7):e0132376.… More
Aug 04, 2015 Scientific News

Ultra-structural hair alterations in Friedreich's ataxia: A scanning electron microscopic investigation

Microsc Res Tech. 2015 Jul 3. doi:… More
Jul 01, 2015 Scientific News

GAA triplet-repeats cause nucleosome depletion in human genome

Genomics. 2015 Jun 20. pii:… More
Jul 01, 2015 Scientific News

Identification of telomere dysfunction in FA

Mol Neurodegener. 2015 Jun 10;10(1):22.… More
Jul 01, 2015 Scientific News

Cardioprotective HIF-1α-frataxin signaling

Am J Physiol Heart Circ Physiol. 2015… More
Jun 03, 2015 Scientific News

New cellular model to follow FA development in time-resolved way

Friedreich's ataxia (FRDA) is a… More
Jun 03, 2015 Scientific News

Novel aberrant genetic and epigenetic events in FA

It is generally accepted that… More
Jun 03, 2015 Funded Research

Src inhibitors modulate frataxin protein levels

Defective expression of frataxin is… More
Jun 03, 2015 Scientific News

Cardiomyopathy in FA: New biomarker for staging cardiac involvement

A comprehensive cardiac assessment will… More
Jun 03, 2015 Scientific News

Turning E. coli into a Frataxin-Dependent Organism

Fe-S bound proteins are ubiquitous and… More
Jun 03, 2015 Scientific News

Turning Yeast into a Frataxin-Independent Organism

Frataxin (Yfh1 in yeast) is a conserved… More
Jun 03, 2015 Scientific News

Switching Frataxin Function by Single Amino Acid Substitution within [Fe-S] Cluster Assembly Scaffold

Simple inorganic structures comprised… More
Jun 03, 2015 Scientific News

Sensorimotor skills in Mouse mutants frataxin-deficient in muscle

Friedreich ataxia is the most common… More
Jun 03, 2015 Scientific News

Iron-sulfur Assembly Complex Catalyzes [2Fe-2S] Clusters on ISCU2

Iron sulfur (Fe-S) clusters are… More
Jun 03, 2015 Scientific News

Interaction of frataxin with IscU of Fe-S clusters

Leishmania donovani is a unicellular… More
Jun 03, 2015 Funded Research

Delivery of human frataxin genomic DNA locus creates different frataxin isoforms

Friedreich's ataxia (FRDA) is the most… More
Apr 11, 2015 Funded Research

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

Friedreich ataxia (FRDA) is due to a… More
Apr 11, 2015 Funded Research

Friedreich's ataxia - a case of aberrant transcription termination?

Reduced expression of the mitochondrial… More
Apr 11, 2015 Funded Research

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells

Abnormally expanded DNA repeats are… More
Apr 11, 2015 Funded Research

Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich's ataxia

Friedreich's ataxia (FRDA) is an… More
Apr 11, 2015 Scientific News

Mitoferrin modulates iron toxicity in a drosophila model of Friedreich´s ataxia

Friedreich´s ataxia is the most… More
Apr 11, 2015 Funded Research

A longitudinal study of the Friedreich Ataxia Impact Scale

Quality of life in Friedreich ataxia… More
Apr 11, 2015 Scientific News

Diffusion tensor imaging and tract-based spatial statistics analysis in Friedreich's ataxia patients

Friedreich's ataxia (FRDA) is the most… More
Apr 11, 2015 Scientific News

Structural characterization of metal binding to a cold-adapted frataxin

Frataxin is an evolutionary conserved… More
Apr 11, 2015 Funded Research

Mechanism of Action of 2-Aminobenzamide HDAC Inhibitors in Reversing Gene Silencing in Friedreich's Ataxia

The genetic defect in Friedreich's… More
Apr 11, 2015 Funded Research

Publication for open-label trial of Resveratrol in FA

Friedreich ataxia (FRDA) is due to a… More
Mar 23, 2015 Funded Research

Iron loading site on the Fe-S cluster assembly scaffold protein is distinct from the active site

Iron-sulfur (Fe-S) cluster containing… More
Mar 23, 2015 Scientific News

Abnormal Cochlear Potentials in Friedreich's Ataxia Point to Disordered Synchrony of Auditory Nerve Fiber Activity

Friedreich's ataxia (FRDA) is a… More
Mar 23, 2015 Scientific News

Selective observation of the disordered import signal of a globular protein by in-cell NMR: The example of frataxins

We have exploited the capability of… More
Mar 23, 2015 Scientific News

Sensorimotor skills in Fxn KO/Mck mutants deficient for frataxin in muscle

Friedreich ataxia is the most common… More
Mar 14, 2015 Funded Research

Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich's ataxia

Friedreich's ataxia (FRDA) is an… More
Mar 11, 2015 Funded Research

The pathogenesis of cardiomyopathy in friedreich ataxia

Friedreich ataxia (FA) is an autosomal… More
Mar 03, 2015 Scientific News

GSK Discovery Fast Track Challenge opening soon

GSK will be opening for submissions to… More
Feb 26, 2015 Scientific News

Ferredoxin, in conjunction with NADPH and ferredoxin-NADP reductase, transfers electrons to the complex IscS/IscU to promote iron-sulfur cluster assembly

Fe-S cluster biogenesis is an essential… More
Feb 26, 2015 Funded Research

A novel GAA repeat expansion-based mouse model of Friedreich ataxia

Friedreich's ataxia (FRDA) is an… More
Feb 26, 2015 Scientific News

Milestones in Friedreich ataxia: more than a century and still learning

Friedreich ataxia (FRDA) is the most… More
Feb 26, 2015 Scientific News

Very late-onset friedreich ataxia with laryngeal dystonia

Friedreich ataxia (FRDA) is an… More
Feb 08, 2015 Supported Research

Applying the Retro-Enantio Approach to Obtain a Peptide Capable of Overcoming the Blood-Brain Barrier

The blood-brain barrier (BBB) is a… More
Feb 08, 2015 Funded Research

Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency

Mitochondrial iron accumulation is a… More
Feb 01, 2015 Scientific News

International Congress on "Friedreich's Ataxia & DNA Structure in Health and Disease" to be held April 11-13, 2015 at the All India Institute of Medical Sciences, New Delhi, India

Dear Colleagues, On behalf of the… More
Feb 01, 2015 Scientific News

Frataxin inactivation leads to steroid deficiency in flies and human ovarian cells

Friedreich ataxia (FA), the most common… More
Feb 01, 2015 Scientific News

Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich's Ataxia

Friedreich's ataxia is a… More
Feb 01, 2015 Scientific News

Mammalian frataxin directly enhances sulfur transfer of NFS1 persulfide to both ISCU and free thiols

Friedreich's ataxia is a severe… More
Feb 01, 2015 Scientific News

"Both Sides of the Wheelchair": The Views of Inpiduals with, and Parents of Inpiduals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors

Friedreich ataxia (FRDA) is an… More
Jan 16, 2015 Funded Research

Friedreich Ataxia: Failure of GABA-ergic and Glycinergic Synaptic Transmission in the Dentate Nucleus

Atrophy of large neurons in the dentate… More
Jan 11, 2015 Funded Research

Gait and Balance in Adults with Friedreich's Ataxia

Friedreich's ataxia (FA) is an… More
Jan 11, 2015 Scientific News

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

BACKGROUND: Friedreich's ataxia is a… More
Jan 11, 2015 Scientific News

Friedreich's ataxia: the European consortium

Friedreich's ataxia: the European… More
Jan 11, 2015 Funded Research

Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia

Friedreich's ataxia (FRDA) is a… More
Jan 11, 2015 Scientific News

Frataxin knockdown in human astrocytes triggers cell death and the release of factors that cause neuronal toxicity

Friedreich's ataxia (FA) is a… More
Dec 29, 2014 Funded Research

Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells

Friedreich ataxia is an inherited… More
Dec 29, 2014 Funded Research

Fe-S cluster biogenesis in isolated mammalian mitochondria: coordinated use of persulfide sulfur and iron, and requirements for GTP, NADH, and ATP

Iron-sulfur (Fe-S) clusters are… More
Dec 29, 2014 Scientific News

Poor fluorodeoxyglucose uptake in myocardial viability study in nondiabetic Friedreich's ataxia patient

A 48-year-old man, a known case of… More
Dec 29, 2014 Scientific News

Monitoring Cardiac Function During Idebenone Therapy in Friedreich's Ataxia

Friedreich's ataxia (FA) is associated… More
Dec 01, 2014 Funded Research

Consensus clinical management guidelines for Friedreich ataxia

Friedreich ataxia (FRDA), a multisystem… More
Nov 14, 2014 Scientific News

p53 directly regulates the transcription of the human frataxin gene and its lack of regulation in tumor cells decreases the utilization of mitochondrial iron

Mitochondrial frataxin functions in… More
Nov 14, 2014 Scientific News

Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes

BACKGROUND: Hereditary ataxia syndromes… More
Nov 14, 2014 Scientific News

Cerebellar pathology in Friedreich's ataxia: Atrophied dentate nuclei with normal iron content

BACKGROUND: In Friedreich's ataxia (FA)… More
Oct 23, 2014 Scientific News

Open-label pilot study of interferon gamma-1b in Friedreich ataxia

OBJECTIVES/AIMS: This is an open-label… More
Oct 23, 2014 Scientific News

An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models

Friedreich ataxia (FRDA) is a genetic… More
Oct 22, 2014 Scientific News

Probing the Kinetic Stabilities of Friedreich's Ataxia Clinical Variants Using a Solid Phase GroEL Chaperonin Capture Platform

Numerous human diseases are caused by… More
Oct 22, 2014 Scientific News

Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia

Patterns of dysarthria in… More
Oct 22, 2014 Scientific News

Nasality in Friedreich ataxia

Perceptual speech research in… More
Oct 22, 2014 Scientific News

Overlapping Binding Sites of the Frataxin Homologue Assembly Factor

In mitochondria FeS clusters,… More
Oct 22, 2014 Scientific News

A longitudinal VBM study monitoring treatment with erythropoietin in patients with Friedreich ataxia

BACKGROUND: Recombinant human… More
Sep 28, 2014 Scientific News

Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery

Iron-sulfur (Fe-S) clusters are… More
Sep 28, 2014 Scientific News

Understanding the frustration arising from the competition between function, misfolding, and aggregation in a globular protein

Folding and function may impose… More
Sep 28, 2014 Funded Research

Cellular, Molecular and Functional Characterisation of YAC Transgenic Mouse Models of Friedreich Ataxia

BACKGROUND: Friedreich ataxia (FRDA) is… More
Sep 28, 2014 Scientific News

Overlapping Binding Sites of the Frataxin Homologue Assembly Factor and the Heat Shock Protein 70 Transfer Factor on the Isu Iron-sulfur Cluster Scaffold Protein

In mitochondria FeS clusters,… More
Sep 28, 2014 Scientific News

Frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry

Iron-sulfur clusters are ubiquitous… More
Sep 28, 2014 Scientific News

A 7-year-old girl with hypertrophic cardiomyopathy and progressive scoliosis

We report a 7 year old girl who was… More
Sep 02, 2014 Funded Research

Epigenetic therapy for Friedreich's ataxia

OBJECTIVE: To investigate whether a… More
Sep 02, 2014 Scientific News

Deferiprone in Friedreich ataxia: A 6-Month randomized controlled trial

OBJECTIVE: We conducted a 6-month,… More
Sep 02, 2014 Scientific News

Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length

OBJECTIVE: Friedreich ataxia (FRDA) is… More
Sep 02, 2014 Funded Research

A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools

OBJECTIVE: To explore the progression… More
Aug 12, 2014 Funded Research

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's Ataxia

Inherited deficiency in the… More
Aug 12, 2014 Scientific News

Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia

An inherited deficiency of the… More
Aug 05, 2014 Scientific News

Post-Doctoral Fellowship available for research on Friedreich's Ataxia

Funding Opportunity: Pre-application… More
Aug 04, 2014 Funded Research

Mesenchymal Stem Cells Improve Motor Functions and Decrease Neurodegeneration in Ataxic Mice

The main objective of this work is to… More
Aug 04, 2014 Scientific News

Human Frataxin Activates Fe-S Cluster Biosynthesis by Facilitating Sulfur Transfer Chemistry

Iron-sulfur clusters are ubiquitous… More
Aug 04, 2014 Funded Research

Therapeutic approaches for the treatment of Friedreich's ataxia

Friedreich ataxia (FRDA) is an… More
Aug 04, 2014 Scientific News

Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia

Friedreich ataxia (FRDA) is an… More
Aug 04, 2014 Funded Research

Functional Characterization of Friedreich Ataxia iPS-Derived Neuronal Progenitors and Their Integration in the Adult Brain

Friedreich ataxia (FRDA) is an… More
Aug 04, 2014 Scientific News

The role of frataxin in fission yeast iron metabolism: Implications for Friedreich's ataxia

BACKGROUND: The neurodegenerative… More
Aug 04, 2014 Funded Research

MutLα Heterodimers Modify the Molecular Phenotype of Friedreich Ataxia

BACKGROUND: Friedreich ataxia (FRDA),… More
Aug 04, 2014 Scientific News

Myelin paucity of the superior cerebellar peduncle in inpiduals with Friedreich ataxia: an MRI magnetization transfer imaging study

The dentate nucleus (DN) is the major… More
Jun 15, 2014 Scientific News

The Alteration of the C-terminal Region of Human Frataxin Distorts its Structural Dynamics and Function

Friedreich's ataxia (FRDA) is linked to… More
Jun 15, 2014 Funded Research

Epigenetic-based therapies for Friedreich ataxia

Friedreich ataxia (FRDA) is a lethal… More
Jun 15, 2014 Scientific News

Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation

Friedreich ataxia (FRDA) is the most… More
Jun 15, 2014 Scientific News

Low Bone Mineral Density in Friedreich Ataxia

Friedreich ataxia (FRDA) is the most… More
Jun 15, 2014 Scientific News

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism

Friedreich ataxia is considered a… More
May 18, 2014 Funded Research

Cross-sectional analysis of glucose metabolism in Friedreich Ataxia

OBJECTIVES: To evaluate the… More
May 18, 2014 Scientific News

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

BACKGROUND: Compound heterozygosity for… More
May 07, 2014 Scientific News

Nicotinamide in Friedreich's ataxia: useful or not?

Friedreich’s ataxia is an autosomal… More
May 07, 2014 Scientific News

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study

BACKGROUND: Friedreich's ataxia is a… More
May 07, 2014 Funded Research

R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome

Friedreich ataxia (FRDA) and Fragile X… More
May 07, 2014 Scientific News

Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia

BACKGROUND AND PURPOSE: In Friedreich's… More
May 07, 2014 Scientific News

Pathophysiogical and therapeutic progress in Friedreich ataxia

Friedreich ataxia (FRDA) is the most… More
May 07, 2014 Scientific News

Cell and gene therapy for Friedreich ataxia - progress to date

Neurodegenerative disorders such as… More
May 07, 2014 Scientific News

Saccade reprogramming in Friedreich ataxia reveals impairments in the cognitive control of saccadic eye movement

Although cerebellar dysfunction has… More
May 07, 2014 Scientific News

Frataxin deficiency in neonatal rat ventricular myocytes targets mitochondria and lipid metabolism

Friedreich ataxia (FRDA) is a… More
Apr 17, 2014 Scientific News

Altered Nucleosome Positioning at the Transcription Start Site and Deficient Transcriptional Initiation in Friedreich Ataxia

Most individuals with Friedreich ataxia… More
Apr 17, 2014 Scientific News

Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis

Friedreich's ataxia (FRDA) is a… More
Apr 17, 2014 Scientific News

Gene Expression Profiling of Mitochondrial Oxidative Phosphorylation (OXPHOS) Complex I in Friedreich Ataxia(FRDA) Patients

Friedreich ataxia (FRDA) is the most… More
Apr 17, 2014 Scientific News

Base Excision Repair of Chemotherapeutically-Induced Alkylated DNA Damage Predominantly Causes Contractions of Expanded GAA Repeats Associated with Friedreich's Ataxia

Expansion of GAA·TTC repeats within the… More
Apr 06, 2014 Scientific News

Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia

Cardiac failure is the most common… More
Mar 29, 2014 Scientific News

Rescue of the Friedreich Ataxia Knockout Mutation in Transgenic Mice Containing an FXN-EGFP Genomic Reporter

Friedreich ataxia (FRDA) is an… More
Mar 29, 2014 Scientific News

Mitochondrial iron-sulfur cluster dysfunction in neurodegenerative disease.

Growing evidence supports a role for… More
Mar 08, 2014 Scientific News

Generation and Characterisation of Friedreich Ataxia YG8R Mouse Fibroblast and Neural Stem Cell Models

BACKGROUND: Friedreich ataxia (FRDA) is… More
Mar 07, 2014 Scientific News

Edison Shedding Light on Energy Production in Diseased Cells

Back in March 2013, Dainippon Sumitomo… More
Feb 24, 2014 Scientific News

Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia

BACKGROUND: Erythropoietin (EPO)… More
Feb 24, 2014 Scientific News

Molecular and clinical investigation of Iranian patients with Friedreich ataxia

BACKGROUND: Friedreich ataxia (FRDA) is… More
Feb 24, 2014 Scientific News

Kinetics of folding of frataxin

The role of the denatured state in… More
Feb 09, 2014 Scientific News

Foundation-industry relationships - a new business model joint-venture philanthropy in therapy development

The business model for medical therapy… More
Jan 28, 2014 Scientific News

Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia

BACKGROUND: Friedreich ataxia (FRDA) is… More
Jan 28, 2014 Scientific News

Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia

Friedreich ataxia (FRDA) is a… More
Jan 28, 2014 Scientific News

Frataxin-bypassing Isu1: characterization of the bypass activity in cells and mitochondria

Frataxin is a conserved mitochondrial… More
Jan 28, 2014 Scientific News

The kinetics of folding of frataxin

The role of the denatured state in… More
Jan 08, 2014 Scientific News

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia

BACKGROUND: Friedreich ataxia (FRDA)… More

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