TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

@article{kov2008TMEM70MC,
  title={TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy},
  author={Alena {\vC}{\'i}{\vz}kov{\'a} and Viktor Stranecky and Johannes A Mayr and Marketa Tesarova and Vendula Havl{\'i}{\vc}kov{\'a} and Jan Paul and Robert Ivanek and Andreas W Kuss and Hana Hansikova and Vilma Kaplanov{\'a} and Marek Vrback{\'y} and Hana Hartmannov{\'a} and Lenka Noskov{\'a} and Tom{\'a}{\vs} Honz{\'i}k and Zdeněk Drahota and Martin Magner and Kateřina Hejzlarov{\'a} and Wolfgang Sperl and J Jan Zeman and Josef Hou{\vs}těk and Stanislav Kmoch},
  journal={Nature Genetics},
  year={2008},
  volume={40},
  pages={1288-1290}
}
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. 
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