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Nuclear genetic defects of mitochondrial ATP synthase
- 1.0428160 - FGÚ 2015 RIV CZ eng J - Journal Article
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
R&D Projects: GA ČR(CZ) GAP303/11/0970; GA ČR GAP303/12/1363; GA MZd(CZ) NT12370; GA MZd(CZ) NT14050
Grant - others:Univerzita Karlova(CZ) 370411
Institutional support: RVO:67985823
Keywords : mitochondrial diseases * TMEM70 * ATPAF1 * ATP5A1 * ATP5E
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 1.293, year: 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
Permanent Link: http://hdl.handle.net/11104/0233567
Number of the records: 1