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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Veröffentlicht in:Stem Cell Res
Hauptverfasser: Li, Jixue, Rozwadowska, Natalia, Clark, Amanda, Fil, Daniel, Napierala, Jill S., Napierala, Marek
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2019
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Article
Online Zugang: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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