Friedreich ataxia- pathogenesis and implications for therapies

@article{Delatycki2019FriedreichAP,
  title={Friedreich ataxia- pathogenesis and implications for therapies},
  author={Martin B. Delatycki and Sanjay I. Bidichandani},
  journal={Neurobiology of Disease},
  year={2019},
  volume={132}
}
Friedreich ataxia is the most common of the hereditary ataxias. It is due to homozygous/compound heterozygous mutations in FXN. This gene encodes frataxin, a protein largely localized to mitochondria. In about 96% of affected individuals there is homozygosity for a GAA repeat expansion in intron 1 of the FXN gene. Studies of people with Friedreich ataxia and of animal and cell models, have provided much insight into the pathogenesis of this disorder. The expanded GAA repeat leads to… Expand
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