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• W2072305268 abstract "Friedreich’s ataxia, the most common hereditary ataxia, is caused by expansion of a GAA triplet located within the first intron of the frataxin gene on chromosome 9q13. There is a clear correlation between size of the expanded repeat and severity of the phenotype. Frataxin is a mitochondrial protein that plays a role in iron homeostasis. Deficiency of frataxin results in mitochondrial iron accumulation, defects in specific mitochondrial enzymes, enhanced sensitivity to oxidative stress, and eventually free-radical mediated cell death. Friedreich’s ataxia is considered a nuclear encoded mitochondrial disease. This review discusses the major and rapid progress made in Friedreich’s ataxia from gene mapping and identification of the gene to pathogenesis and encouraging therapeutic implications." @default.
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• W2072305268 date "2003-05-01" @default.
• W2072305268 modified "2023-10-03" @default.
• W2072305268 title "Friedreich’s ataxia" @default.
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• W2072305268 doi "https://doi.org/10.1016/s0887-8994(03)00004-3" @default.
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