ATP6/Q0085 Literature Guide Help

Other names published for ATP6: OLI2, OLI4, PHO1, F1F0 ATP synthase subunit a, Q0085

ATP6 - Disease Gene Related (6)

ReferenceOther Genes Addressed
Kucharczyk R, et al.  (2010) Consequences of the pathogenic T9176C mutation of human mitochondrial DNA on yeast mitochondrial ATP synthase. Biochim Biophys Acta 1797(6-7):1105-1112
Fontanesi F, et al.  (2009) Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using yeast models of OXPHOS deficiencies. Curr Protoc Hum Genet Chapter 19:Unit19.5
Kucharczyk R, et al.  (2009) Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients. Biochim Biophys Acta 1793(5):817-24
Kucharczyk R, et al.  (2009) Introducing the human Leigh syndrome mutation T9176G into Saccharomyces cerevisiae mitochondrial DNA leads to severe defects in the incorporation of Atp6p into the ATP synthase and in the mitochondrial morphology. Hum Mol Genet 18(15):2889-98
Tzen CY and Wu TY  (2005) Evolutional analysis in determining pathogenic versus nonpathogenic mutations of ATPase 6 in human mitochondriopathy. Ann N Y Acad Sci 1042:19-24
Turnbull DM and Lightowlers RN  (2002) A roundabout route to gene therapy. Nat Genet 30(4):345-6