About: X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts

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About: X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts Goto Sponge NotDistinct Permalink

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scientific article published on 01 January 1996

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) articolo scientifico (pubblicato il 1996) (it) наукова стаття, опублікована в січні 1996 (uk) im Januar 1996 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xineru de 1996 (ast) artikull shkencor i botuar më 01 janar 1996 (sq) scientific article published on 01 January 1996 (en)
publication date	wds:Q71345292-FF6E51CC-FF4D-4A26-96A2-90450FB2F9EC
publication date	1996-01-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q71345292-A3728F93-225F-4062-B327-38FB8960667F
exact match	https://scigraph.springernature.com/pub.10.1007/bf01799418
cites work	wds:Q71345292-5D7D4CBE-C308-4EEC-B2E5-E5ED1FA549BC wds:Q71345292-6ABE7613-9B42-4A0E-912E-7E420366F881 wds:Q71345292-6F7C3927-E093-45F5-85A7-19BCF7F8A637 wds:Q71345292-A127AAF0-8848-4D0E-B1FF-5AF3B272CCCD wds:Q71345292-A45327CA-11FA-4FCC-B61B-4998A6D765B3 wds:Q71345292-D05FF8B4-520F-40E5-875B-3B5D0295225E wds:Q71345292-D08DF6EC-A4EA-4E89-AD1F-0836FCF16001 wds:Q71345292-FD9878E1-B009-4530-AE58-256D32381261 wds:Q71345292-FE7C13C8-5D4B-4B10-868B-23E0B89D3F47
cites work	Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria Barth syndrome: clinical observations and genetic linkage studies. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28 Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria Multiple syndromes of 3-methylglutaconic aciduria
author name string	wds:Q71345292-0859FAD6-F44C-4880-AF69-1F02986E23C2 wds:Q71345292-0E08FB6B-DF58-4EB2-BCF6-0D55135D9BB4 wds:Q71345292-153C75E2-97D0-400E-9177-22525676F13A wds:Q71345292-1F4E1D11-6C73-42EF-9B97-9CE68C04B719 wds:Q71345292-A44108E7-D731-46CE-BFA4-1493D7800858 wds:Q71345292-D8015F16-E171-486E-97F8-BD04DBAC27E9 wds:Q71345292-E6D40A77-A402-46A4-B313-C643AF9A1368
author name string	R B Schutgens P G Barth A H van Gennip C Van den Bogert P A Bolhuis H R Scholte A G Ketel
rdfs:label	X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts (en) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts (sq) X-linked cardioskeletal myopathy and neutropenia (nl)
skos:prefLabel	X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts (en) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts (sq) X-linked cardioskeletal myopathy and neutropenia (nl)
name	X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts (en) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts (sq) X-linked cardioskeletal myopathy and neutropenia (nl)
title	wds:Q71345292-56E34686-052B-4F4B-B197-520571DF3ED5
title	X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts (en)
page(s)	wds:Q71345292-5552E00B-E43D-42B8-BD00-64757F371A42
page(s)	157-160
instance of	wds:Q71345292-63A907F0-6034-48BD-AEE1-6CF7DECA0ACD
instance of	scholarly article
main subject	wds:Q71345292-DA12E496-46C0-4BE7-9526-189F217B5B21
main subject	Barth syndrome
PubMed ID	wds:Q71345292-F75ACE52-F69A-4E2D-AD16-CF7D29B5DAAD
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8739954
PubMed ID	8739954
published in	wds:Q71345292-F75128C5-7334-4764-AE01-7DACC856DE58
published in	Journal of Inherited Metabolic Disease
issue	wds:Q71345292-AFA18DBB-3E86-4B0D-9978-41AB90FE1A37
volume	wds:Q71345292-3F69021F-0091-4505-AF3B-8CF94B1C9688
issue	2
volume	19
DOI	wds:Q71345292-848F0D34-027F-43E7-8797-DB9D9DB5FA95
DOI	http://dx.doi.org/10.1007/BF01799418
DOI	10.1007/BF01799418
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q71345292
is cites work of	TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome Barth syndrome may be due to an acyltransferase deficiency Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060) Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle Multiple presentation of mitochondrial disorders Loss of function of KRE5 suppresses temperature sensitivity of mutants lacking mitochondrial anionic lipids Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies Cardiolipin and mitochondrial phosphatidylethanolamine have overlapping functions in mitochondrial fusion in Saccharomyces cerevisiae Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiency Barth syndrome mutations that cause tafazzin complex lability Seven functional classes of Barth syndrome mutation The power of yeast to model diseases of the powerhouse of the cell. X chromosome inactivation in carriers of Barth syndrome X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060 Mutation characterization and genotype-phenotype correlation in Barth syndrome Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies Metabolic cardiomyopathies Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes Myocardial regulation of lipidomic flux by cardiolipin synthase: setting the beat for bioenergetic efficiency

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