Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches
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چکیده
منابع مشابه
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.
Friedreich's ataxia (FRDA) is a neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin. The physiopathological consequences of frataxin deficiency are a severe disruption of iron-sulfur cluster biosynthesis, mitochondrial iron overload coupled to cellular iron dysregulation and an increased sensitivity to oxidative stress. Frataxin is a highly conserved pro...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2010
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddq165