Počet záznamů: 1
Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations
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SYSNO ASEP 0383276 Druh ASEP J - Článek v odborném periodiku Zařazení RIV J - Článek v odborném periodiku Poddruh J Článek ve WOS Název Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations Tvůrce(i) Kovářová, Nikola (FGU-C) RID
Vrbacká-Čížková, Alena (FGU-C)
Pecina, Petr (FGU-C) RID, ORCID
Stránecký, V. (CZ)
Pronicka, E. (PL)
Kmoch, S. (CZ)
Houštěk, Josef (FGU-C) RID, ORCIDZdroj.dok. Biochimica Et Biophysica Acta-Molecular Basis of Disease. - : Elsevier - ISSN 0925-4439
Roč. 1822, č. 7 (2012), s. 1114-1124Poč.str. 11 s. Jazyk dok. eng - angličtina Země vyd. NL - Nizozemsko Klíč. slova mitochondrial disorder ; SURF1 gene ; Leigh syndrome ; gene expression ; oxidative phosphorylation ; cytochrome c oxidase Vědní obor RIV FG - Pediatrie CEP NS9759 GA MZd - Ministerstvo zdravotnictví NT12370 GA MZd - Ministerstvo zdravotnictví GD305/08/H037 GA ČR - Grantová agentura ČR Institucionální podpora FGU-C - RVO:67985823 CEZ AV0Z50110509 - FGU-C (2005-2011) UT WOS 000304727500005 DOI 10.1016/j.bbadis.2012.03.007 Anotace SURF1 gene mutations are frequent cause of severe assembly defects of cytochrome c oxidase (COX) with clinical manifestation of Leigh syndrome. In this study, fibroblasts cell lines from patients with different SURF1 mutations were analyzed to investigate changes in protein and transcript levels of OXPHOS complexes and other pro-mitochondrial genes due to SURF1 mutations. Immunoblott analysis revealed decreased amount of COX accompanied by compensatory increase of respiratory chain complexes I, III and V. Altered biogenesis of COX resulted in accumulation of COX assembly intermediates. In patient cells the residual COX was incorporated predominantly into I-III2-IV1 supercomplex. Whole genome expression profiling showed general decrease of transcriptional activity in patients cells and indicated that observed compensatory changes in OXPHOS complexes originate from posttranscriptional mechanisms Pracoviště Fyziologický ústav Kontakt Lucie Trajhanová, lucie.trajhanova@fgu.cas.cz, Tel.: 241 062 400 Rok sběru 2013
Počet záznamů: 1