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Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit
- 1.0355559 - FGÚ 2011 RIV GB eng J - Journal Article
Mayr, J. A. - Havlíčková, Vendula - Zimmermann, F. - Magler, I. - Kaplanová, Vilma - Ješina, Pavel - Pecinová, Alena - Nůsková, Hana - Koch, J. - Sperl, W. - Houštěk, Josef
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit.
Human Molecular Genetics. Roč. 19, č. 17 (2010), s. 3430-3439. ISSN 0964-6906. E-ISSN 1460-2083
R&D Projects: GA MZd(CZ) NS9759; GA MŠMT(CZ) 1M0520
Grant - others:Univerzita Karlova(CZ) 97807
Institutional research plan: CEZ:AV0Z50110509
Keywords : ATP-synthase * ATP5E * disease
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 8.058, year: 2010
Mutation in ATP5E gene has been found to cause isolated deficiency of ATP synthase resulting in a novel type of human mitochondrial disease with peripheral neuropathy. Mutated subunit epsilon does not influence biochemical function of ATP synthase complex but inhibits its biogenesis and assembly. This is the first case of mitochondrial disease due to mutation in nuclear encoded subunit of ATP synthase
Permanent Link: http://hdl.handle.net/11104/0194303
Number of the records: 1