Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich’s ataxia cardiomyocytes.

Friedreich’s ataxia is caused by large homozygous, intronic expansions of GAA repeats in the frataxin (FXN) gene, resulting in severe downregulation of its expression. Pathogenic repeats are located in intron one, hence patients express unaffected FXN protein, albeit in low quantities. Although FRDA...

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Vydáno v:Stem Cell Res
Hlavní autoři: Li, Jixue, Rozwadowska, Natalia, Clark, Amanda, Fil, Daniel, Napierala, Jill S., Napierala, Marek
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6853280/
https://ncbi.nlm.nih.gov/pubmed/31446150
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.scr.2019.101529
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