Nature genetics, 2008-11, Vol.40 (11), p.1288-1290
- Kaplanová, Vilma
- Sperl, Wolfgang
- Houšt k, Josef
- Paul, Jan
- Vrbacký, Marek
- Hansíková, Hana
- Hejzlarová, Kate ina
- Nosková, Lenka
- Honzík, Tomáš
- Drahota, Zden k
- Zeman, Ji í
- í ková, Alena
- Kmoch, Stanislav
- Kuss, Andreas W
- Stránecký, Viktor
- Mayr, Johannes A
- Magner, Martin
- Tesa ová, Markéta
- Havlí ková, Vendula
- Hartmannová, Hana
- Ivánek, Robert
2008
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- Autor(en) / Beteiligte
- Kaplanová, Vilma
- Sperl, Wolfgang
- Houšt k, Josef
- Paul, Jan
- Vrbacký, Marek
- Hansíková, Hana
- Hejzlarová, Kate ina
- Nosková, Lenka
- Honzík, Tomáš
- Drahota, Zden k
- Zeman, Ji í
- í ková, Alena
- Kmoch, Stanislav
- Kuss, Andreas W
- Stránecký, Viktor
- Mayr, Johannes A
- Magner, Martin
- Tesa ová, Markéta
- Havlí ková, Vendula
- Hartmannová, Hana
- Ivánek, Robert
- Titel
- TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
- Ist Teil von
- Nature genetics, 2008-11, Vol.40 (11), p.1288-1290
- Ort / Verlag
- United States: Nature Publishing Group
- Erscheinungsjahr
- 2008
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1061-4036eISSN: 1546-1718DOI: 10.1038/ng.246Titel-ID: cdi_proquest_miscellaneous_69722948
- Format
- –
- Schlagworte
- Adenosine triphosphatase, ATP, ATP synthases, Cardiomyopathies - complications, Cardiomyopathies - enzymology, Cardiomyopathies - genetics, Cardiomyopathy, Cell Line, Cloning, Molecular, DNA, Complementary - genetics, Gene mutations, Genetic aspects, Genetic Complementation Test, Genetics, Health aspects, Heart diseases, Homozygosity, Humans, Infant, Newborn, Membrane Proteins - genetics, Mitochondrial Encephalomyopathies - complications, Mitochondrial Encephalomyopathies - enzymology, Mitochondrial Encephalomyopathies - genetics, Mitochondrial Proteins - genetics, Mitochondrial Proton-Translocating ATPases - deficiency, Mutation, Mutation - genetics, Physiological aspects, Risk factors, Transfection