Emerging therapeutics for the treatment of Friedreich’s ataxia

@article{Indelicato2018EmergingTF,
  title={Emerging therapeutics for the treatment of Friedreich’s ataxia},
  author={E. Indelicato and S. B{\"o}sch},
  journal={Expert Opinion on Orphan Drugs},
  year={2018},
  volume={6},
  pages={57 - 67}
}
ABSTRACT Introduction: Friedreich ataxia (FRDA) is an autosomal recessive disorder which manifests with progressive instability, leading ultimately to loss of independent gait, dysarthria, skeletal abnormalities and cardiomyopathy. FRDA is caused in 96% of cases by a GAA repeat expansion in the first intron of FXN gene. Pathologic GAA expansions hinder transcriptional activity and result in a reduced expression of the mitochondrial protein frataxin. At a cellular level, frataxin deficiency is… Expand
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