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Nuclear genetic defects of mitochondrial ATP synthase
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SYSNO ASEP 0428160 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Nuclear genetic defects of mitochondrial ATP synthase Author(s) Hejzlarová, Kateřina (FGU-C)
Mráček, Tomáš (FGU-C) RID, ORCID
Vrbacký, Marek (FGU-C) RID, ORCID
Kaplanová, Vilma (FGU-C) RID, ORCID
Karbanová, Vendula (FGU-C) RID
Nůsková, Hana (FGU-C) RID, ORCID
Pecina, Petr (FGU-C) RID, ORCID
Houštěk, Josef (FGU-C) RID, ORCIDSource Title Physiological Research. - : Fyziologický ústav AV ČR, v. v. i. - ISSN 0862-8408
Roč. 63, Suppl.1 (2014), S57-S71Number of pages 15 s. Language eng - English Country CZ - Czech Republic Keywords mitochondrial diseases ; TMEM70 ; ATPAF1 ; ATP5A1 ; ATP5E Subject RIV EB - Genetics ; Molecular Biology R&D Projects GAP303/11/0970 GA ČR - Czech Science Foundation (CSF) GAP303/12/1363 GA ČR - Czech Science Foundation (CSF) NT12370 GA MZd - Ministry of Health (MZ) NT14050 GA MZd - Ministry of Health (MZ) Institutional support FGU-C - RVO:67985823 UT WOS 000332073100007 EID SCOPUS 84897589888 Annotation 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 Workplace Institute of Physiology Contact Lucie Trajhanová, lucie.trajhanova@fgu.cas.cz, Tel.: 241 062 400 Year of Publishing 2015
Number of the records: 1