Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F12%3A12551" target="_blank" >RIV/00216208:11110/12:12551 - isvavai.cz</a>

Alternative codes found

RIV/67985823:_____/12:00383276 RIV/00064165:_____/12:12551

Result on the web

<a href="http://dx.doi.org/10.1016/j.bbadis.2012.03.007" target="_blank" >http://dx.doi.org/10.1016/j.bbadis.2012.03.007</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations

Original language description

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 andV. 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.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FG - Paediatrics

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2012

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Biochimica et Biophysica Acta-Molecular Basis of Disease

ISSN

0925-4439

e-ISSN

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Volume of the periodical

1822

Issue of the periodical within the volume

7

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

11

Pages from-to

1114-1124

UT code for WoS article

000304727500005

EID of the result in the Scopus database

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