Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations
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DOI: 10.1007/s00018-021-04100-5
Abstract: Friedreich Ataxia (FA) is a rare neuro-cardiodegenerative disease caused by mutations in the frataxin (FXN) gene. The most prevalent mutation is a GAA expansion in the first intron of the gene causing decreased frataxin expression.… read more here.
Keywords: friedreich ataxia; decreased frataxin; point mutation; mutation ... See more keywords