Počet záznamů: 1

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit

  1. 1.
    0355559 - FGU-C 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
    Grant CEP: GA MZd(CZ) NS9759; GA MŠk(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