About: Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

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About: Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy Goto Sponge NotDistinct Permalink

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scientific journal article

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rdf:type	Item
description	artículu científicu espublizáu en 2001 (ast) vědecký článek publikovaný v roce 2001 (cs) 2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած (hyw) наукова стаття, опублікована в лютому 2001 (uk) مقالة علمية (نشرت في فبراير 2001) (ar) 2001 թվականի փետրվարին հրատարակված գիտական հոդված (hy) vedecký článok (publikovaný 2001/02/01) (sk) wetenschappelijk artikel (gepubliceerd op 2001/02/01) (nl) im Februar 2001 veröffentlichter wissenschaftlicher Artikel (de) scientific journal article (en)
publication date	wds:Q28646237-54B283DD-D999-4552-86F1-69456769F84E
publication date	2001-02-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q28646237-049BF134-BABB-42BD-B590-A04518772EED wds:Q28646237-0511A5AD-5967-4465-89EC-C9465C767A7E wds:Q28646237-08A2D09B-393B-4127-A61B-A5970C9DF422 wds:Q28646237-1C40BA05-107A-4635-A2B1-3449109ACD9A wds:Q28646237-1E2726F1-9363-4D9D-83B8-CA43932E44F0 wds:Q28646237-4325DB72-57E6-4167-87D6-0B1802A9292F wds:Q28646237-494314E6-A420-48FA-9EEF-F5CF3A749663 wds:Q28646237-4ABD37B0-90F6-4B3E-AFB2-2136FC7960DD wds:Q28646237-68384570-3C49-456A-8696-E277B6370ADB wds:Q28646237-72383081-D430-42B6-996F-5E0E3A0CF439 wds:Q28646237-779D5278-46E5-4D0D-B4C9-E261C7510C12 wds:Q28646237-7BB38ED2-36FF-47E5-B49A-21FF44CC3B6E wds:Q28646237-80F9941C-45C9-49F5-B17B-A9FCAA4986FA wds:Q28646237-8D5BFBD9-E742-4735-A859-3E5074CCF1BD wds:Q28646237-9198296E-3100-4FF0-B99C-B1E58C3C1AC2 wds:Q28646237-944001BF-46C6-4A82-B039-5476D5F27C8B wds:Q28646237-957BD296-0F07-493C-ACE2-3B7EC3D7D814 wds:Q28646237-AC75DE6F-3D24-4948-BB3C-834ABF45A19F wds:Q28646237-AE04CB5F-3425-490A-8897-8A12DBDA67A2 wds:Q28646237-B8CC6787-32D1-4AF9-B610-EBA1F7C0791E wds:Q28646237-CCF26BAC-7EEB-4047-A70C-7370F89316D6 wds:Q28646237-D4A05191-A501-4F0D-9AA9-D8D76A264374 wds:Q28646237-E08EB7EC-3B1B-4A1A-88D1-C7BEF3AF7DFE wds:Q28646237-E3AA840E-9883-4926-990B-99BAD1D3E4CA wds:Q28646237-F928B711-3777-4382-88E0-F42DEB96E329
cites work	Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency The 49-kDa subunit of NADH-ubiquinone oxidoreductase (Complex I) is involved in the binding of piericidin and rotenone, two quinone-related inhibitors. SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency. Estimation of NADH oxidation in human skeletal muscle mitochondria. Estimation of pyruvate dehydrogenase (E1) activity in human skeletal muscle; three cases with E1 deficiency. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency Isolated complex I deficiency in children: clinical, biochemical and genetic aspects The first nuclear-encoded complex I mutation in a patient with Leigh syndrome Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Modular evolution of the respiratory NADH:ubiquinone oxidoreductase and the origin of its modules Human mitochondrial complex I in health and disease NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy Maternal inheritance and the evaluation of oxidative phosphorylation diseases Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship Three-dimensional structure of NADH-dehydrogenase from Neurospora crassa by electron microscopy and conical tilt reconstruction Three classes of inhibitors share a common binding domain in mitochondrial complex I (NADH:ubiquinone oxidoreductase). cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed
author name string	wds:Q28646237-02458435-91DA-4A56-8015-5AA073521188 wds:Q28646237-3C29CD16-3512-4AC6-A20A-BD855B36CF1B wds:Q28646237-855FEDA5-A922-4FAA-943C-77019B31991E wds:Q28646237-89E5C352-9868-45D2-90DF-86ABA580D5A2 wds:Q28646237-CA6EEDEC-B76A-4313-9E70-7579F1A0EAF8 wds:Q28646237-D18F82BC-3B27-4114-A951-46BBC7D67A61 wds:Q28646237-DB112D63-F06A-4B52-9707-25B107FD6637 wds:Q28646237-DE77C524-5677-4BBC-8FD4-E1C968192306 wds:Q28646237-F23E72D2-2E55-4041-9088-5D8382C15D5A
author name string	F. Trijbels J. Smeitink L. van den Heuvel J. Loeffen R. Smeets R. Sengers H. Mandel S. Stöckler-Ipsiroglu O. Elpeleg
rdfs:label	Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy (en) Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy (nl) Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy (ast)
skos:prefLabel	Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy (en) Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy (nl) Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy (ast)
name	Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy (en) Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy (nl) Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy (ast)
title	wds:Q28646237-A68CD57F-131C-4E52-822C-36499F309E29
title	Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy (en)
page(s)	wds:Q28646237-7E63C62C-88F1-4C15-8F31-6BA2F976F284
page(s)	195–201
instance of	wds:Q28646237-7558DBD9-0117-417A-A106-5A053CD2017D
instance of	scholarly article
main subject	wds:Q28646237-1FD548CA-432C-4904-82C1-67D782E6AB13 wds:Q28646237-B0E6A05B-B816-4439-8850-2259738270A3
main subject	cardiomyopathy Patients

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