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rdf:type
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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)
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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)
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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)
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skos:notation
| - RIV/67985823:_____/12:00385211!RIV13-MZ0-67985823
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - P(1M0520), P(GAP303/11/0970), P(GD303/03/H065), P(NS9759), Z(AV0Z50110509)
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/67985823:_____/12:00385211
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - ATP synthase; TMEM70; disease; gene expression profiling; oxidative phosphorylation; mitochondrial biogenesis (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - Biochimica Et Biophysica Acta-Bioenergetics
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...vavai/riv/projekt
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Houštěk, Josef
- Hejzlarová, Kateřina
- Kmoch, S.
- Nůsková, Hana
- Stránecký, V.
- Vrbacká-Čížková, Alena
- Karbanová-Havlíčková, Vendula
- Potocká, Andrea
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http://linked.open...ain/vavai/riv/wos
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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http://bibframe.org/vocab/doi
| - 10.1016/j.bbabio.2012.03.004
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