About: Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation

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About: Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Mutations in TMEM70 gene represent the most frequent cause of isolated deficiency of mitochondrial ATP synthase resulting in a severe neonatal encephalo-cardiomyopathy. Quantitative analysis of respiratory chain complexes and intramitochondrial proteases was performed in the patient cells with 317-2A>G homozygous mutation in TMEM70 gene. SDS- and BN-PAGE Western blot analysis revealed a significant 82–89% decrease of ATP synthase and 50–162% increase of respiratory chain complex IV and 22–53% increase of complex III, whereas the content of Lon protease, paraplegin and prohibitins 1 and 2 was not significantly changed. Whole genome expression profiling revealed posttranscriptional origin of the observed adaptive changes in mitochondrial respiratory chain Mutations in TMEM70 gene represent the most frequent cause of isolated deficiency of mitochondrial ATP synthase resulting in a severe neonatal encephalo-cardiomyopathy. Quantitative analysis of respiratory chain complexes and intramitochondrial proteases was performed in the patient cells with 317-2A>G homozygous mutation in TMEM70 gene. SDS- and BN-PAGE Western blot analysis revealed a significant 82–89% decrease of ATP synthase and 50–162% increase of respiratory chain complex IV and 22–53% increase of complex III, whereas the content of Lon protease, paraplegin and prohibitins 1 and 2 was not significantly changed. Whole genome expression profiling revealed posttranscriptional origin of the observed adaptive changes in mitochondrial respiratory chain (en)
Title	Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation (en)
skos:prefLabel	Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation (en)
skos:notation	RIV/67985823:_____/12:00385211!RIV13-MZ0-67985823
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(1M0520), P(GAP303/11/0970), P(GD303/03/H065), P(NS9759), Z(AV0Z50110509)
http://linked.open...iv/cisloPeriodika	7
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Houštěk, Josef Nůsková, Hana Havlíčková, Vendula Hejzlarová, Kateřina Vrbacká-Čížková, Alena Potocká, Andrea
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fyziologický ústav AV ČR, v. v. i.
http://linked.open...dnocenehoVysledku	128125
http://linked.open...ai/riv/idVysledku	RIV/67985823:_____/12:00385211
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	ATP synthase; TMEM70; disease; gene expression profiling; oxidative phosphorylation; mitochondrial biogenesis (en)
http://linked.open.../riv/klicoveSlovo	ATP synthase TMEM70 oxidative phosphorylation disease mitochondrial biogenesis gene expression profiling
http://linked.open...odStatuVydavatele	NL - Nizozemsko
http://linked.open...ontrolniKodProRIV	[525D1FAF5524]
http://linked.open...i/riv/nazevZdroje	Biochimica Et Biophysica Acta-Bioenergetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	6 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...vavai/riv/projekt	Mechanism of ATP synthase biogenesis and the role of TMEM70 protein Center for Applied Genomics Genetic causes of mitochondrial diseases due to deficiency of ATP synthase Interdisciplinary approach to molecular basis of inherited metabolic disorders
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	1817
http://linked.open...iv/tvurceVysledku	Houštěk, Josef Hejzlarová, Kateřina Kmoch, S. Nůsková, Hana Stránecký, V. Vrbacká-Čížková, Alena Karbanová-Havlíčková, Vendula Potocká, Andrea
http://linked.open...ain/vavai/riv/wos	000305502700008
http://linked.open...n/vavai/riv/zamer	Výzkum molekulárních a buněčných základů fyziologických a patofyziologických procesů s cílem objasnit mechanismy vzniku závažných onemocnění člověka
issn	0005-2728
number of pages	7 (xsd:int)
http://bibframe.org/vocab/doi	10.1016/j.bbabio.2012.03.004

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