Article
Recent advances in the molecular pathogenesis of Friedreich ataxia.
Human molecular genetics - 12 Apr 2000
Puccio H, Koenig M
Abstract excerpt
Friedreich ataxia, the most frequent cause of recessive ataxia, is due in most cases to a homozygous intronic expansion resulting in the loss of function of frataxin. Frataxin is a mitochondrial protein conserved through evolution. Yeast knock-out models and histological data from patient heart autopsies have shown that frataxin defect causes mitochondrial iron accumulation. Biochemical data from patient heart...
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