Ontology highlight
ABSTRACT:
SUBMITTER: Li Y
PROVIDER: S-EPMC4817761 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Li Yanjie Y Polak Urszula U Bhalla Angela D AD Rozwadowska Natalia N Butler Jill Sergesketter JS Lynch David R DR Dent Sharon Y R SYR Napierala Marek M
Molecular therapy : the journal of the American Society of Gene Therapy 20150311 6
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 heterozygous, FRDA carrier-like cells and significantly increased frataxin expression. ...[more]