Počet záznamů: 1  

Nuclear genetic defects of mitochondrial ATP synthase

  1. 1.
    0428160 - FGÚ 2015 RIV CZ eng J - Článek v odborném periodiku
    Hejzlarová, Kateřina - Mráček, Tomáš - Vrbacký, Marek - Kaplanová, Vilma - Karbanová, Vendula - Nůsková, Hana - Pecina, Petr - Houštěk, Josef
    Nuclear genetic defects of mitochondrial ATP synthase.
    Physiological Research. Roč. 63, Suppl.1 (2014), S57-S71. ISSN 0862-8408
    Grant CEP: GA ČR(CZ) GAP303/11/0970; GA ČR GAP303/12/1363; GA MZd(CZ) NT12370; GA MZd(CZ) NT14050
    Grant ostatní:Univerzita Karlova(CZ) 370411
    Institucionální podpora: RVO:67985823
    Klíčová slova: mitochondrial diseases * TMEM70 * ATPAF1 * ATP5A1 * ATP5E
    Kód oboru RIV: EB - Genetika a molekulární biologie
    Impakt faktor: 1.293, rok: 2014

    The review summarizes current knowledge about nuclear genes mutations leading to the isolated deficiency of mitochondrial ATP synthase. Mutations in TMEM70, ATPAF1, ATP5A1 and ATP5E genes are discussed in the view of their prevalency in population and of their impact on the structure and function of ATP synthase
    Trvalý link: http://hdl.handle.net/11104/0233567