X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update - Wikidata - awgldk - TriplyDB

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

http://www.wikidata.org/entity/Q28257595

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Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synuclein Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiency Shotgun lipidomics reveals the temporally dependent, highly diversified cardiolipin profile in the mammalian brain: temporally coordinated postnatal diversification of cardiolipin molecular species with neuronal remodeling The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome Shotgun lipidomics of cardiolipin molecular species in lipid extracts of biological samples Alterations in myocardial cardiolipin content and composition occur at the very earliest stages of diabetes: a shotgun lipidomics study Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies Mitochondrial disease in childhood: nuclear encoded Barth syndrome.Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes Lipidomics for studying metabolism OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria Mitochondrial dysfunction and reduced prostaglandin synthesis in skeletal muscle of Group VIB Ca2+-independent phospholipase A2gamma-deficient mice.The role of calcium-independent phospholipase A2 in cardiolipin remodeling in the spontaneously hypertensive heart failure rat heart Psychosocial Functioning in Youth with Barth Syndrome.The 3-methylglutaconic acidurias: what's new?Mitochondria-targeted antioxidant prevents cardiac dysfunction induced by tafazzin gene knockdown in cardiac myocytes.Barth syndrome is associated with a cognitive phenotype.Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein.Natural history of Barth syndrome: a national cohort study of 22 patients.A Drosophila model of Barth syndrome Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome.Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.Lipogenesis mitigates dysregulated sarcoplasmic reticulum calcium uptake in muscular dystrophy.A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.New clinical and molecular insights on Barth syndrome Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome ALCAT1 is a polyglycerophospholipid acyltransferase potently regulated by adenine nucleotide and thyroid status Prevalence of Barth syndrome in adult left ventricular hypertrabeculation / noncompaction.Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.The Taz1p transacylase is imported and sorted into the outer mitochondrial membrane via a membrane anchor domain.

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

http://www.wikidata.org/entity/Q28257595

description

2004 nî lūn-bûn

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2004 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2004 թվականի մայիսին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年论文

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name

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

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type

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

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American Journal of Medical Genetics Part A

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

@en

P2093

Fredoen Valianpour

http://www.w3.org/2001/XMLSchema#string

Frédéric M Vaz

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Jan Lam

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Marinus Duran

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Peter G Barth

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Valerie M Bowen

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P2860

Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome

Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria

Isolated noncompaction of left ventricular myocardium. A study of eight cases

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

Abnormal profiles of polyunsaturated fatty acids in the brain, liver, kidney and retina of patients with peroxisomal disorders

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349-54

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576088

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10.1002/AJMG.A.20660

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4

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126A

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Ronald J A Wanders

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2004-05-01T00:00:00Z

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15098233

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