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FARAFARA Cure FA

The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia

Friedreich ataxia (FRDA), the most common form of recessive ataxia, is due to reduced levels of frataxin, a highly conserved mitochondrial iron-chaperone involved in iron-sulfur cluster (ISC) biogenesis. Most patients are homozygous for a (GAA)n expansion within the first intron of the frataxin gene. A few patients, either with typical or atypical clinical presentation, are compound heterozygous for the GAA expansion and a micromutation.

Read More: The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia

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Jen Farmer

Jen Farmer

Executive Director

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