Počet záznamů: 1
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 - Článek v odborném periodiku
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
Grant CEP: GA MZd(CZ) NS9759; GA MŠMT(CZ) 1M0520
Grant ostatní: Univerzita Karlova(CZ) 97807
Výzkumný záměr: CEZ:AV0Z50110509
Klíčová slova: ATP-synthase * ATP5E * disease
Kód oboru RIV: EB - Genetika a molekulární biologie
Impakt faktor: 8.058, rok: 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
Trvalý link: http://hdl.handle.net/11104/0194303
Počet záznamů: 1