Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia

Friedreich's ataxia (FRDA) is an autosomal recessive neurological disease caused by expansions of guanine-adenine-adenine (GAA) repeats in intron 1 of the frataxin (FXN) gene. The expansion results in significantly decreased frataxin expression. We report that human FRDA cells can be corrected...

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Detalhes bibliográficos
Publicado no:Mol Ther
Main Authors: Li, Yanjie, Polak, Urszula, Bhalla, Angela D, Rozwadowska, Natalia, Butler, Jill Sergesketter, Lynch, David R, Dent, Sharon Y R, Napierala, Marek
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4817761/
https://ncbi.nlm.nih.gov/pubmed/25758173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mt.2015.41
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