Ontology highlight
ABSTRACT:
SUBMITTER: Selak MA
PROVIDER: S-EPMC4419809 | biostudies-literature | 2011 Mar
REPOSITORIES: biostudies-literature
Selak Mary A MA Lyver Elise E Micklow Elizabeth E Deutsch Eric C EC Onder Ozlem O Selamoglu Nur N Yager Claire C Knight Simon S Carroll Martin M Daldal Fevzi F Dancis Andrew A Lynch David R DR Sarry Jean-Emmanuel JE
Mitochondrion 20101213 2
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by GAA triplet expansions or point mutations in the FXN gene on chromosome 9q13. The gene product called frataxin, a mitochondrial protein that is severely reduced in FRDA patients, leads to mitochondrial iron accumulation, Fe-S cluster deficiency and oxidative damage. The tissue specificity of this mitochondrial disease is complex and poorly understood. While frataxin is ubiquitously expressed, the cellular phe ...[more]