Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results in the inhibition of gene expression and an insufficiency of the mitochondrial protein frataxin.
Scientific News
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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.
Rescue of the Friedreich Ataxia Knockout Mutation in Transgenic Mice Containing an FXN-EGFP Genomic Reporter
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- Category: Scientific News
Mitochondrial iron-sulfur cluster dysfunction in neurodegenerative disease.
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Growing evidence supports a role for mitochondrial iron metabolism in the pathophysiology of neurodegenerative disorders such as Friedreich ataxia (FRDA) and Parkinson disease (PD) as well as in the motor and cognitive decline associated with the aging process. Iron-sulfur enzyme deficits and regional iron accumulation have been observed in each of these conditions.
Read More: Mitochondrial iron-sulfur cluster dysfunction in neurodegenerative disease.
Generation and Characterisation of Friedreich Ataxia YG8R Mouse Fibroblast and Neural Stem Cell Models
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BACKGROUND:
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by GAA repeat expansion in the first intron of the FXN gene, which encodes frataxin, an essential mitochondrial protein. To further characterise the molecular abnormalities associated with FRDA pathogenesis and to hasten drug screening, the development and use of animal and cellular models is considered essential. Studies of lower organisms have already contributed to understanding FRDA disease pathology, but mammalian cells are more related to FRDA patient cells in physiological terms.
Edison Shedding Light on Energy Production in Diseased Cells
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Back in March 2013, Dainippon Sumitomo Pharma signed a deal worth $50 million or more to Mountain View, CA-based Edison Pharmaceuticals, a developer of drugs for disorders of energy metabolism. The big pharmaceutical company from Japan liked the results. Less than a year later, it came back for more.
The two companies have now formed a larger collaboration—worth as much as $4.2 billion to Edison—and their goal is equally large-scaled. They plan to prepare 10 new drug candidates for clinical trials within five years.
Read More: Edison Shedding Light on Energy Production in Diseased Cells
Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia
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BACKGROUND:
Erythropoietin (EPO) derivatives have been found to increase frataxin levels in Friedreich's ataxia (FRDA) in vitro. This multicenter, double-blind, placebo-controlled, phase II clinical trial aimed to evaluate the safety and tolerability of Lu AA24493 (carbamylated EPO; CEPO).
Read More: Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia
- Molecular and clinical investigation of Iranian patients with Friedreich ataxia
- Kinetics of folding of frataxin
- Foundation-industry relationships - a new business model joint-venture philanthropy in therapy development
- Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia
- Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia
