X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
about
Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomographyCharacterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiencyThe cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndromeMitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzinsCellular functions of cardiolipin in yeastCardiolipin remodeling: a regulatory hub for modulating cardiolipin metabolism and functionCardiolipin, a critical determinant of mitochondrial carrier protein assembly and function.Congenital neutropenia: diagnosis, molecular bases and patient management.Distinct effects of tafazzin deletion in differentiated and undifferentiated mitochondria.Neutrophil disorders and their management.Barth syndrome is associated with a cognitive phenotype.A Drosophila model of Barth syndromeSevere dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2Delineating 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.Tafazzin knockdown in mice leads to a developmental cardiomyopathy with early diastolic dysfunction preceding myocardial noncompaction.Loss of cardiolipin leads to perturbation of mitochondrial and cellular iron homeostasisSupercomplexes of the mitochondrial electron transport chain decline in the aging rat heart.The Taz1p transacylase is imported and sorted into the outer mitochondrial membrane via a membrane anchor domain.Hypoxia-mediated impairment of the mitochondrial respiratory chain inhibits the bactericidal activity of macrophages.Deletion of the cardiolipin-specific phospholipase Cld1 rescues growth and life span defects in the tafazzin mutant: implications for Barth syndrome.Caspase-8 goes cardiolipin: a new platform to provide mitochondria with microdomains of apoptotic signals?Assessing olfactory functions in patients with Barth syndrome.Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease.Loss of Cardiolipin Leads to Perturbation of Acetyl-CoA Synthesis.Loss of tafazzin results in decreased myoblast differentiation in C2C12 cells: A myoblast model of Barth syndrome and cardiolipin deficiency.
P2860
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P2860
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
@ast
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
@en
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
@nl
type
label
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
@ast
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
@en
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
@nl
prefLabel
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
@ast
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
@en
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
@nl
P2093
P1476
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
@en
P2093
P304
P407
P577
1999-06-01T00:00:00Z