A novel X-linked gene, G4.5. is responsible for Barth syndrome
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Cardiomyopathy classification: ongoing debate in the genomics eraMitochondria targeting of non-peroxidizable triphenylphosphonium conjugated oleic acid protects mouse embryonic cells against apoptosis: role of cardiolipin remodelingGenetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathyType III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi JewsMonolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth SyndromeExome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathyComparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomographyX-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functionsOnly one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolismRole of calcium-independent phospholipase A2 in the pathogenesis of Barth syndromeMany roads lead to a broken heart: the genetics of dilated cardiomyopathy.Cardiac and skeletal muscle defects in a mouse model of human Barth syndromeMaking heads or tails of phospholipids in mitochondriaMutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathyCharacterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiencyDigenic mutations in severe congenital neutropeniaBarth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirthCharacterization of tafazzin splice variants from humans and fruit fliesNeonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell StudiesLipid Acyl Chain Remodeling in YeastThe Role of Cardiolipin in Cardiovascular HealthGenetics of Human and Canine Dilated CardiomyopathyThe role of peroxidation of mitochondrial membrane phospholipids in pancreatic β -cell failureLoss of Function Mutations in NNT Are Associated With Left Ventricular NoncompactionBarth syndrome.Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzinsA mitochondrial phosphatase required for cardiolipin biosynthesis: the PGP phosphatase Gep4.Deacylation on the matrix side of the mitochondrial inner membrane regulates cardiolipin remodeling.Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth SyndromeMechanism for Remodeling of the Acyl Chain Composition of Cardiolipin Catalyzed by Saccharomyces cerevisiae TafazzinRegulation of mitochondrial phospholipids by Ups1/PRELI-like proteins depends on proteolysis and Mdm35.Ancient ubiquitous protein 1 binds to the conserved membrane-proximal sequence of the cytoplasmic tail of the integrin alpha subunits that plays a crucial role in the inside-out signaling of alpha IIbbeta 3Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosisBarth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardiumThe enzymatic function of tafazzinApical cell adhesion molecule, trophinin, localizes to the nuclear envelopeComplex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissuesDefining functional classes of Barth syndrome mutation in humansDisorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes
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P2860
A novel X-linked gene, G4.5. is responsible for Barth syndrome
description
1996 nî lūn-bûn
@nan
1996 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
A novel X-linked gene, G4.5. is responsible for Barth syndrome
@ast
A novel X-linked gene, G4.5. is responsible for Barth syndrome
@en
A novel X-linked gene, G4.5. is responsible for Barth syndrome
@nl
type
label
A novel X-linked gene, G4.5. is responsible for Barth syndrome
@ast
A novel X-linked gene, G4.5. is responsible for Barth syndrome
@en
A novel X-linked gene, G4.5. is responsible for Barth syndrome
@nl
prefLabel
A novel X-linked gene, G4.5. is responsible for Barth syndrome
@ast
A novel X-linked gene, G4.5. is responsible for Barth syndrome
@en
A novel X-linked gene, G4.5. is responsible for Barth syndrome
@nl
P2093
P2860
P3181
P356
P1433
P1476
A novel X-linked gene, G4.5. is responsible for Barth syndrome
@en
P2093
A K Gedeon
E Maestrini
P A Bolhuis
P2860
P2888
P3181
P356
10.1038/NG0496-385
P407
P577
1996-04-01T00:00:00Z