Article
Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.
Molecular therapy : the journal of the American Society of Gene Therapy - 1 Jun 2015
Li Yanjie, Polak Urszula, Bhalla Angela D, Rozwadowska Natalia, Butler Jill Sergesketter, Lynch David R, Dent Sharon Y R, Napierala Marek
Abstract excerpt
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 by zinc finger nuclease-mediated excision of the expanded GAA repeats. Editing of a single expanded GAA allele created...
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