Abdulraheem Almalki Charlotte L Alston Alasdair Parker Ingrid Simonic Sarju G Mehta Langping He Mojgan Reza Jorge M A Oliveira Robert N Lightowlers Robert McFarland Robert W Taylor Zofia M A Chrzanowska-Lightowlers
10.1016/j.bbadis.2013.10.008
Biochim Biophys Acta
2014 Jan;1842(1):56-64.
aminoacyl-trna synthetase aminoacylation lbsl mlasa mri mitochondria mitochondrial disease mitochondrial translation oxphos pch6 protein synthesis aars aminoacyl-trna synthetase leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation magnetic resonance imaging mitochondrial mitochondrial dna mt- mtdna myopathy, lactic acidosis and sideroblastic anaemia oxidative phosphorylation pontocerebellar hypoplasia type 6
CC BY
https://pubmed.ncbi.nlm.nih.gov/24161539/
Amino Acyl-tRNA Synthetases / genetics Cytochrome-c Oxidase Deficiency / genetics Epilepsy / genetics Mitochondria / genetics Mutation
Amino Acyl-tRNA Synthetases / genetics Cytochrome-c Oxidase Deficiency / genetics Epilepsy / genetics Mitochondria / genetics Mutation Case Reports Research Support, Non-U.S. Gov't Amino Acid Sequence Amino Acyl-tRNA Synthetases / metabolism Aminoacylation Child, Preschool Cyclooxygenase 1 / genetics Cyclooxygenase 1 / metabolism Cyclooxygenase 2 / genetics Cyclooxygenase 2 / metabolism Cytochrome-c Oxidase Deficiency / complications Cytochrome-c Oxidase Deficiency / enzymology Cytochrome-c Oxidase Deficiency / pathology Electron Transport Complex IV / genetics Electron Transport Complex IV / metabolism Epilepsy / complications Epilepsy / enzymology Epilepsy / pathology Fibroblasts / cytology Fibroblasts / metabolism Gene Expression Humans Male Mitochondria / enzymology Mitochondria / pathology Molecular Sequence Data Muscle, Skeletal / enzymology Muscle, Skeletal / pathology Myoblasts / metabolism Myoblasts / pathology RNA, Messenger / genetics RNA, Messenger / metabolism RNA, Transfer / genetics RNA, Transfer / metabolism RNA, Messenger RNA, Transfer Cyclooxygenase 1 Cyclooxygenase 2 PTGS1 protein, human PTGS2 protein, human Electron Transport Complex IV Amino Acyl-tRNA Synthetases
PMC3898479
24161539
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency
2014