TALEs targeting a promoter sequence and fused with a transcription activation domain (TAD) may be used to specifically induce the expression of a gene as a potential treatment for haploinsufficiency. This potential therapeutic approach was applied to increase the expression of frataxin in fibroblasts of Friedreich ataxia (FRDA) patients.
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.
A Potential New Therapeutic Approach for Friedreich Ataxia: Induction of Frataxin Expression With TALE Proteins
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Molecular and Functional Alterations in a Mouse Cardiac Model of Friedreich Ataxia
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Friedreich ataxia (FA) is a neurodegenerative and cardiodegenerative disease resulting from marked frataxin deficiency. The condition is characterized by ataxia with fatal cardiomyopathy, but the pathogenic mechanisms are unclear. We investigated the association between gene expression and progressive histopathological and functional changes using the muscle creatine kinase conditional frataxin knockout (KO) mouse; this mouse develops a severe cardiac phenotype that resembles that of FA patients.
Read More: Molecular and Functional Alterations in a Mouse Cardiac Model of Friedreich Ataxia
Quantitative profiling and identification of differentially expressed plasma proteins in friedreich's ataxia
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Friedreich's ataxia (FRDA) is an autosomal recessive ataxia, characterized by progressive gait ataxia, limb ataxia, dysarthria, and areflexia associated with diabetes and hypertrophic cardiomyopathy. The primary cause of FRDA is the presence of expanded DNA triplet (GAA) repeats in the first intron of the fxn gene on chromosome 9q13.
Induced Pluripotent Stem Cells from Friedreich Ataxia Patients Fail to Upregulate Frataxin During In Vitro Differentiation to Peripheral Sensory Neurons
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The value of human disease models, which are based on induced pluripotent stem cells (iPSCs), depends on the capacity to generate specifically those cell types affected by pathology. We describe a new iPSC-based model of Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disorder with an intronic GAA repeat expansion in the frataxin gene.
Ferredoxin Competes with Bacterial Frataxin in Binding to the Desulfurase IscS
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The bacterial iron-sulfur cluster (isc) operon is an essential machine that is highly conserved from bacteria to primates and responsible for iron-sulfur cluster biogenesis. Among its components are the genes for the desulfurase IscS that provides sulfur for cluster formation, and a specialized ferredoxin (Fdx) whose role is still unknown.
Read More: Ferredoxin Competes with Bacterial Frataxin in Binding to the Desulfurase IscS
- His86 from the N-Terminus of Frataxin Coordinates Iron and Is Required for Fe-S Cluster Synthesis
- Friedreich Ataxia: Executive Control Is Related to Disease Onset and GAA Repeat Length
- Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia
- The role of the N-terminal tail for the oligomerization, folding and stability of human frataxin
- Neurodegeneration in Friedreich's Ataxia: From Defective Frataxin to Oxidative Stress
