About: Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

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About: Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene Goto Sponge NotDistinct Permalink

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scientific article published on 01 February 1998

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в 1998 (uk) article scientifique publié en 1998 (fr) im Februar 1998 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en febreru de 1998 (ast) artikull shkencor i botuar më 01 shkurt 1998 (sq) scientific article published on 01 February 1998 (en)
publication date	wds:Q57588450-CA6CF306-980C-4057-BCC0-4A7C844B8BDF
publication date	1998-02-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q57588450-DEFD9ACA-CDDA-4E41-A3D5-A0824DDED136
exact match	https://scigraph.springernature.com/pub.10.1023/a:1005397227996
cites work	wds:Q57588450-06C7D161-7B39-468A-8D44-C0EB315A332A wds:Q57588450-19EBB68B-D8DE-497C-B8B7-4256CD59C82B wds:Q57588450-2BC01B2E-598F-4251-8E2C-D12CDE8F4F46 wds:Q57588450-3C256C2A-0AC8-483D-A7EE-9F0A9AC50285 wds:Q57588450-51C63B00-033F-462F-8076-F3A91A6BE3E6 wds:Q57588450-68457D15-015B-45EE-8E29-1D9692B416F9 wds:Q57588450-728CA1CE-E4D4-4504-9F2A-B7E5BA27C18F wds:Q57588450-795E0C99-A4E2-4CD7-9803-78277F9CCB48 wds:Q57588450-9491F42B-08F0-4CD8-97BD-0F573C55A274 wds:Q57588450-A3434232-71E3-40B0-AF69-BAA94199DECE wds:Q57588450-B04C6EA6-DEA5-457E-8E6E-E616277444A2 wds:Q57588450-B66A9778-18FF-43A6-A7C1-D3D0632AE3EC wds:Q57588450-BFAE38D1-B987-4DDD-9C2F-1B1D1E6C05BD wds:Q57588450-D2EE24AD-B1C9-49FC-B04B-22F14812B245 wds:Q57588450-DE3415BB-A926-4284-8D4F-43EAFC174017 wds:Q57588450-E3E03313-A815-430A-AA0D-7E64338CEE98 wds:Q57588450-F5AC8F1B-A60C-4B8C-96AD-C8CF4E5EEA19
cites work	Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome Genetic heterogeneity in Leigh syndrome. Sequence and organization of the human mitochondrial genome Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene Subacute necrotizing encephalomyelopathy in an infant Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death Hydrogen ion-ATP synthase from rat liver mitochondria. A simple, rapid purification method of the functional complex and its characterization Bilateral striatal lesions in childhood. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome
author name string	wds:Q57588450-1116AC0C-BE98-48CF-A401-856BD30FC011 wds:Q57588450-51E385D6-9949-4891-A71A-DECCDC495248 wds:Q57588450-8A326F7A-1581-44C6-8370-66CA7B0E103B wds:Q57588450-8BC1B0F3-A576-4F70-A8AC-90FC368E5B9F wds:Q57588450-CD634778-A852-48E2-BC50-48B2C1CFD3E8
author name string	M Zeviani L De Meirleir M Rimoldi G Fariello S Seneca
rdfs:label	Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (en) Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (nl) Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (sq)
skos:prefLabel	Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (en) Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (nl) Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (sq)
name	Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (en) Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (nl) Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (sq)
author	wds:Q57588450-1B8FE55D-9D27-4E78-A16E-E48AB8DA0E30 wds:Q57588450-7682CC0D-11C6-4F20-B083-F2AB48A2CDDD
author	Enrico Bertini Carlo Dionisi-Vici
title	wds:Q57588450-91F2259B-DDD6-417E-B2F4-76D6E833CFE2
title	Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (en)
page(s)	wds:Q57588450-8EF1E818-3836-4445-9700-3E45302E23B4
page(s)	2-8
instance of	wds:Q57588450-13297DAA-87A4-410E-9E73-C35D82E0DCA9
instance of	scholarly article
PubMed ID	wds:Q57588450-86359605-4430-47D8-B1D3-666034FB9A68
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/9501263
PubMed ID	9501263
published in	wds:Q57588450-B6E428F0-9836-44EF-ADE2-18F6FD6005E8
published in	Journal of Inherited Metabolic Disease
issue	wds:Q57588450-A4851447-F2F1-4EA1-AE61-82F741698153
volume	wds:Q57588450-10BCAFEB-4DFD-4073-AA12-A0A5E4530DA7
issue	1
volume	21
DOI	wds:Q57588450-49B6A767-601C-4041-878C-76BE4A28E772
DOI	http://dx.doi.org/10.1023/A:1005397227996
DOI	10.1023/A:1005397227996
Dimensions Publication ID	wds:Q57588450-A9644CE2-94C4-4AAB-A949-0CB0E6660204
Dimensions Publication ID	1046691263
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57588450
is cites work of	Evolutional analysis in determining pathogenic versus nonpathogenic mutations of ATPase 6 in human mitochondriopathy. Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells Mitochondrial ATP synthase: architecture, function and pathology. Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation. Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography Consequences of the pathogenic T9176C mutation of human mitochondrial DNA on yeast mitochondrial ATP synthase Understanding structure, function, and mutations in the mitochondrial ATP synthase Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation.

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