Article
Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia.
Disease models & mechanisms - 27 Jul 2020
Fil Daniel, Chacko Balu K, Conley Robbie, Ouyang Xiaosen, Zhang Jianhua, Darley-Usmar Victor M, Zuberi Aamir R, Lutz Cathleen M, Napierala Marek, Napierala Jill S
Abstract excerpt
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin (FXN). Most FRDA patients are homozygous for large expansions of GAA repeat sequences in intron 1 of FXN, whereas a fraction of patients are compound heterozygotes, with a missense or nonsense mutation in one FXN allele and expanded GAAs in the other. A prevalent...
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