Počet záznamů: 1
Nuclear genetic defects of mitochondrial ATP synthase
- 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. E-ISSN 1802-9973
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
Počet záznamů: 1