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

scientific article published on 01 January 1996

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/BF01799418
P698PubMed publication ID8739954

P2093author name stringR B Schutgens
P G Barth
C Van den Bogert
A H van Gennip
P A Bolhuis
H R Scholte
A G Ketel
P2860cites workTricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDaQ27861105
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytesQ34247905
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduriaQ34595191
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.Q34730418
Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28Q35196413
Multiple syndromes of 3-methylglutaconic aciduriaQ40909902
Barth syndrome: clinical observations and genetic linkage studies.Q51595783
Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduriaQ67690769
Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathyQ72184065
P433issue2
P921main subjectBarth syndromeQ928424
P304page(s)157-160
P577publication date1996-01-01
P1433published inJournal of Inherited Metabolic DiseaseQ6295359
P1476titleX-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts
P478volume19

Reverse relations

cites work (P2860)
Q90654547A critical appraisal of the tafazzin knockdown mouse model of Barth syndrome: what have we learned about pathogenesis and potential treatments?
Q61809506AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome
Q39077752Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy
Q26772690Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies
Q27936025Barth syndrome may be due to an acyltransferase deficiency
Q35003569Barth syndrome mutations that cause tafazzin complex lability
Q24632525Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
Q64934202Barth syndrome: mechanisms and management.
Q36006868Cardiolipin and mitochondrial phosphatidylethanolamine have overlapping functions in mitochondrial fusion in Saccharomyces cerevisiae
Q28386643Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome
Q24604918Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiency
Q26770152Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial disease
Q24290629Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome
Q28387241Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes
Q37830368Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies
Q36754802Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome
Q46745637Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndrome.
Q46699248Functional characterization of the CgPGS1 gene reveals a link between mitochondrial phospholipid homeostasis and drug resistance in Candida glabrata
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Q33763830Loss of function of KRE5 suppresses temperature sensitivity of mutants lacking mitochondrial anionic lipids
Q34216280Metabolic cardiomyopathies
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Q81446954TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome.
Q27936928Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome
Q24651872The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome
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Q35687142Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies