About: Loss of function of Sco1 and its interaction with cytochrome c oxidase

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Loss of function of Sco1 and its interaction with cytochrome c oxidase Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Sco1 and Sco2 are mitochondrial copper metallochaperones specific for cytochrome c oxidase (CcO). Both proteins are presumably involved in copper transfer/insertion into the CuA center of CcO subunit Cox2. In this paper we analyzed the impact on CcO assembly and tissue copper levels of a G132S mutation in the juxtamembrane region of SCO1 metallochaperone associated with early onset hypertrophic cardiomyopathy, encephalopathy, hypotonia, and hepatopathy, assessed the total copper content of various SURF1 and SCO2-deficient tissues, and investigated the possible physical association between CcO and Sco1. We found that the G132S mutation compromises the stability of the mutant protein, presumably by its impaired ability to dimerize. Similarly to Sco1 and Sco2-deficient tissues, also the samples affected by mutations in another CcO-specific assembly protein Surf1 showed marked defect of total cellular copper. Finally, both co-purification and blue-native western blotting demonstrated that a significant fr Sco1 and Sco2 are mitochondrial copper metallochaperones specific for cytochrome c oxidase (CcO). Both proteins are presumably involved in copper transfer/insertion into the CuA center of CcO subunit Cox2. In this paper we analyzed the impact on CcO assembly and tissue copper levels of a G132S mutation in the juxtamembrane region of SCO1 metallochaperone associated with early onset hypertrophic cardiomyopathy, encephalopathy, hypotonia, and hepatopathy, assessed the total copper content of various SURF1 and SCO2-deficient tissues, and investigated the possible physical association between CcO and Sco1. We found that the G132S mutation compromises the stability of the mutant protein, presumably by its impaired ability to dimerize. Similarly to Sco1 and Sco2-deficient tissues, also the samples affected by mutations in another CcO-specific assembly protein Surf1 showed marked defect of total cellular copper. Finally, both co-purification and blue-native western blotting demonstrated that a significant fr (en)
Title	Loss of function of Sco1 and its interaction with cytochrome c oxidase Loss of function of Sco1 and its interaction with cytochrome c oxidase (en)
skos:prefLabel	Loss of function of Sco1 and its interaction with cytochrome c oxidase Loss of function of Sco1 and its interaction with cytochrome c oxidase (en)
skos:notation	RIV/00216208:11110/09:4045!RIV10-MZ0-11110___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(1M0520), P(NS10581), Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Stibůrek, Lukáš Zeman, Jiří Hůlková, Helena Veselá, Kateřina Hansíková, Hana
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	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	324147
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/09:4045
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	mitochondria; copper; SCO2; SURF1; leigh-syndrome; surf1 mutations; cellular copper; deficiency; gene; biogenesis; binding (en)
http://linked.open.../riv/klicoveSlovo	biogenesis deficiency SCO2 SURF1 copper gene mitochondria binding leigh-syndrome cellular copper surf1 mutations
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[279E1A5F2DBA]
http://linked.open...i/riv/nazevZdroje	American Journal of Physiology - Cell Physiology
http://linked.open...in/vavai/riv/obor	FP
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...vavai/riv/projekt	Genetic bases of cytochrome c oxidase deficiency Center for Applied Genomics
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	296
http://linked.open...iv/tvurceVysledku	Zeman, Jiří Hůlková, Helena Veselá, Kateřina Hansíková, Hana Stibůrek, Lukáš
http://linked.open...ain/vavai/riv/wos	000265654300029
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů
issn	0363-6143
number of pages	9 (xsd:int)
http://localhost/t...ganizacniJednotka	11110
is http://linked.open...avai/riv/vysledek of	Loss of function of Sco1 and its interaction with cytochrome c oxidase Loss of function of Sco1 and its interaction with cytochrome c oxidase Loss of function of Sco1 and its interaction with cytochrome c oxidase Loss of function of Sco1 and its interaction with cytochrome c oxidase

Faceted Search & Find service v1.16.118 as of Jun 21 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 58 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software