Reversible dysregulation of the mitochondrial ATP synthase in skin fibroblasts from children with vitamin B12-dependent methylmalonic acidaemia.
Das
A M
AM
Department of Paediatrics, Hamburg University, Germany.
D025181:ATP Synthetase Complexes; D002118:Calcium / Q000378:metabolism; D002478:Cells, Cultured; D002648:Child; D003576:Electron Transport Complex IV / Q000378:metabolism; D005347:Fibroblasts / Q000201:enzymology / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D008764:Methylmalonic Acid / Q000097:blood*; D008928:Mitochondria / Q000201:enzymology*; D009097:Multienzyme Complexes / Q000378:metabolism*; D017856:Phosphotransferases (Phosphate Group Acceptor) / Q000378:metabolism*; D012867:Skin / Q000201:enzymology* / Q000648:ultrastructure; D014805:Vitamin B 12 / Q000378:metabolism; D014806:Vitamin B 12 Deficiency / Q000201:enzymology* / Q000473:pathology
D009097:Multienzyme Complexes; D008764:Methylmalonic Acid; D003576:Electron Transport Complex IV; D025181:ATP Synthetase Complexes; D017856:Phosphotransferases (Phosphate Group Acceptor); D014805:Vitamin B 12; D002118:Calcium