Article
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.
Human molecular genetics - 15 Dec 2010
Fassone Elisa, Duncan Andrew J, Taanman Jan-Willem, Pagnamenta Alistair T, Sadowski Michael I, Holand Tatjana, Qasim Waseem, Rutland Paul, Calvo Sarah E, Mootha Vamsi K, Bitner-Glindzicz Maria, Rahman Shamima
Abstract excerpt
Complex I is the first and largest enzyme in the respiratory chain and is located in the inner mitochondrial membrane. Complex I deficiency is the most commonly reported mitochondrial disorder presenting in childhood, but the molecular basis of most cases remains elusive. We describe a patient with complex I deficiency caused by mutation of the molecular chaperone FOXRED1. A combined homozygosity mapping and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.