%0 Journal Article
%T Selected missense mutations impair frataxin processing in Friedreich ataxia
%A Charles J. Isaacs
%A Elisia Clark
%A Jill S. Butler
%A Marek Napierala
%J Archive of "Annals of Clinical and Translational Neurology".
%D 2017
%R 10.1002/acn3.433
%X Frataxin (FXN) is a highly conserved mitochondrial protein. Reduced FXN levels cause Friedreich ataxia, a recessive neurodegenerative disease. Typical patients carry GAA repeat expansions on both alleles, while a subgroup of patients carry a missense mutation on one allele and a GAA repeat expansion on the other. Here, we report that selected disease©\related FXN missense mutations impair FXN localization, interaction with mitochondria processing peptidase, and processing
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5553228/