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FARAFARA Cure FA

Role of mismatch repair enzymes in GAA-TTC triplet-repeat expansion in Friedreich's ataxia induced pluripotent stem cells (iPSCs)

The genetic mutation in Friedreich's Ataxia (FRDA) is a hyper-expansion of the triplet-repeat sequence GAA-TTC within the first intron of the FXN gene. Although yeast and reporter construct models for GAA-TTC triplet-repeat expansion have been reported, studies in FRDA pathogenesis and therapeutic development are limited by the availability of an appropriate cell model in which to study the mechanism of instability of the GAA-TTC triplet repeats in the human genome.

Red More: Role of mismatch repair enzymes in GAA-TTC triplet-repeat expansion in Friedreich's ataxia induced pluripotent stem cells (iPSCs)


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Jen Farmer

Jen Farmer

Executive Director

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