Ontology highlight
ABSTRACT:
SUBMITTER: Sondheimer N
PROVIDER: S-EPMC5432661 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Sondheimer Neal N Hewson Stacy S Cameron Jessie M JM Somers Gino R GR Broadbent Jane Dunning JD Ziosi Marcello M Quinzii Catarina Maria CM Naini Ali B AB
Molecular genetics and metabolism reports 20170511
Coenzyme Q<sub>10</sub> (CoQ<sub>10</sub>) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ<sub>10</sub> synthesis are usually associated with the impaired function of CoQ<sub>10</sub>-dependent complexes I, II and III. The recessively transmitted CoQ<sub>10</sub> deficiency has been associated with a number of phenotypically and genetically heterogeneous groups of diso ...[more]