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- W2119241207 endingPage "1201" @default.
- W2119241207 startingPage "1201" @default.
- W2119241207 abstract "Friedreich ataxia, the most common type of inherited ataxia, is itself caused in most cases by a large expansion of an intronic GAA repeat, resulting in decreased expression of the target frataxin gene. The autosomal recessive inheritance of the disease gives this triplet repeat mutation some unique features of natural history and evolution. Frataxin is a mitochondrial protein that has homologues in yeast and even in gram-negative bacteria. Yeast organisms deficient in the frataxin homologue accumulate iron in mitochondria and show increased sensitivity to oxidative stress. This suggests that Friedreich ataxia is caused by mitochondrial dysfunction and free radical toxicity." @default.
- W2119241207 created "2016-06-24" @default.
- W2119241207 creator A5080418392 @default.
- W2119241207 date "1999-10-01" @default.
- W2119241207 modified "2023-09-30" @default.
- W2119241207 title "Molecular Pathogenesis of Friedreich Ataxia" @default.
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- W2119241207 doi "https://doi.org/10.1001/archneur.56.10.1201" @default.
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