Ontology highlight
ABSTRACT:
SUBMITTER: Whitnall M
PROVIDER: S-EPMC3528580 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
Whitnall Megan M Suryo Rahmanto Yohan Y Huang Michael L-H ML Saletta Federica F Lok Hiu Chuen HC Gutiérrez Lucía L Lázaro Francisco J FJ Fleming Adam J AJ St Pierre Tim G TG Mikhael Marc R MR Ponka Prem P Richardson Des R DR Richardson Des R DR
Proceedings of the National Academy of Sciences of the United States of America 20121120 50
There is no effective treatment for the cardiomyopathy of the most common autosomal recessive ataxia, Friedreich ataxia (FA). This disease is due to decreased expression of the mitochondrial protein, frataxin, which leads to alterations in mitochondrial iron (Fe) metabolism. The identification of potentially toxic mitochondrial Fe deposits in FA suggests Fe plays a role in its pathogenesis. Studies using the muscle creatine kinase (MCK) conditional frataxin knockout mouse that mirrors the diseas ...[more]