Cizkova 2008 Nat Genet
Cızkova A, Stranecky V, Mayr JA, Tesarova M, Havlıckova V, Paul J, Ivanek R, Kuss AW, Hansıkova H, Kaplanova W, Vrbacky M, Hartmannova H, Noskova L, Honzık T, Drahota Z, Magner M, Hejzlarova K, Sperl W, Zeman J, Houstek J, Kmoch S (2008) TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet 40:1288-90. |
Cızkova A, Stranecky V, Mayr JA, Tesarova M, Havlıckova V, Paul J, Ivanek R, Kuss AW, Hansıkova H, Kaplanova W, Vrbacky M, Hartmannova H, Noskova L, Honzık T, Drahota Z, Magner M, Hejzlarova K, Sperl W, Zeman J, Houstek J, Kmoch S (2008) Nat Genet
Abstract: We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. Complementation of the cell lines of these individuals with wild-type TMEM70 restored biogenesis and metabolic function of the enzyme complex. Our results show that TMEM70 is involved in mitochondrial ATP synthase biogenesis in higher eukaryotes.
• O2k-Network Lab: CZ Prague Houstek J, CZ Prague Zeman J, CZ Hradec Kralove Cervinkova Z, AT Salzburg Sperl W
Labels: MiParea: Respiration, nDNA;cell genetics, Genetic knockout;overexpression, mt-Medicine
Pathology: Other
Preparation: Isolated mitochondria Enzyme: Complex IV;cytochrome c oxidase
Coupling state: OXPHOS
HRR: Oxygraph-2k