X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
about
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth SyndromeMutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like conditionRole of calcium-independent phospholipase A2 in the pathogenesis of Barth syndromeMitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synucleinCharacterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiencyShotgun lipidomics reveals the temporally dependent, highly diversified cardiolipin profile in the mammalian brain: temporally coordinated postnatal diversification of cardiolipin molecular species with neuronal remodelingThe cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndromeShotgun lipidomics of cardiolipin molecular species in lipid extracts of biological samplesAlterations in myocardial cardiolipin content and composition occur at the very earliest stages of diabetes: a shotgun lipidomics studyBarth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell StudiesMitochondrial disease in childhood: nuclear encodedBarth syndrome.Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzinsTaz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth SyndromeMonolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosisDisorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genesLipidomics for studying metabolismOPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondriaMitochondrial 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 heartPsychosocial 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 syndromeMitochondrial 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 syndromeSubstrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndromeA 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 SyndromeALCAT1 is a polyglycerophospholipid acyltransferase potently regulated by adenine nucleotide and thyroid statusPrevalence 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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P2860
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
description
2004 nî lūn-bûn
@nan
2004 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
@ast
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
@en
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
@nl
type
label
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
@ast
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
@en
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
@nl
prefLabel
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
@ast
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
@en
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
@nl
P2093
P2860
P3181
P356
P1476
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
@en
P2093
Fredoen Valianpour
Frédéric M Vaz
Marinus Duran
Peter G Barth
Valerie M Bowen
P2860
P304
P3181
P356
10.1002/AJMG.A.20660
P407
P577
2004-05-01T00:00:00Z