MOLECULAR GENETICS AND METABOLISM, vol.123, no.1, pp.28-42, 2018 (SCI-Expanded)
Article / Article
MOLECULAR GENETICS AND METABOLISM
Science Citation Index Expanded (SCI-EXPANDED), Scopus
Mitochondrial disease, Lactic acidosis, Cardiomyopathy, Ketogenic diet, Mitochondrial translation optimization 1, Oxidative Phosphorylation Defect, MITOCHONDRIAL TRANSFER-RNAS, LACTIC-ACIDOSIS, HYPERTROPHIC CARDIOMYOPATHY, DISEASE, MUTATIONS, TRANSLATION, DISORDERS, DYSFUNCTION, CHILDREN, DEFECTS
Hacettepe University Affiliated:
Background: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency -10 (COXPD10).