Cizkova 2008 Nat Genet

[[Has title::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. Nature Gen. 40(11): 1288-1290.]]

Was written by::Cızkova A, Was written by::Stranecky V, Was written by::Mayr JA, Was written by::Tesarova M, Was written by::Havlıckova V, Was written by::Paul J, Was written by::Ivanek R, Was written by::Kuss AW, Was written by::Hansıkova H, Was written by::Kaplanova W, Was written by::Vrbacky M, Was written by::Hartmannova H, Was written by::Noskova L, Was written by::Honzık T, Was written by::Drahota Z, Was written by::Magner M, Was written by::Hejzlarova K, Was written by::Sperl W, Was written by::Zeman J, Was written by::Houstek J, Was written by::Kmoch S (Was published in year::2008) Was published in journal::Nature Gen.

Abstract: [[has 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.]]

Labels:

Stress:Injury and adaptation::Genetic Defect; Knockdown; Overexpression 

Preparation: Preparation::Isolated Mitochondria 

Regulation: Topic::Respiration; OXPHOS; ETS Capacity 

HRR: Instrument and method::Oxygraph-2k