Ontology highlight
ABSTRACT:
SUBMITTER: Ravn K
PROVIDER: S-EPMC4750589 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Ravn Kirstine K Schönewolf-Greulich Bitten B Hansen Rikke M RM Bohr Anna-Helene AH Duno Morten M Wibrand Flemming F Ostergaard Elsebet E
Molecular genetics and metabolism reports 20150220
Disorders caused by defects in the mitochondrial translation system are clinically and genetically heterogeneous. The elongation phase of mitochondrial protein synthesis requires, among many other components, three nuclear-encoded elongation factors: EFTu (TUFM; 602389), EFTs (TSFM; 604723), and EFG1 (GFM1; 606639). Mutations have been identified in the genes encoding all three elongation factors, and they result in combined respiratory chain deficiencies and severe phenotypes with an early fata ...[more]