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Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth SyndromeComparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomographyOnly one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolismMitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzinsMonolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosisThe enzymatic function of tafazzinCardiolipin remodeling: a regulatory hub for modulating cardiolipin metabolism and functionBarth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).Congenital neutropenia: diagnosis, molecular bases and patient management.Psychosocial Functioning in Youth with Barth Syndrome.A Drosophila model of Barth syndromeSyndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.Cell biology of cardiac mitochondrial phospholipids.Loss of cardiolipin leads to perturbation of mitochondrial and cellular iron homeostasisCardiolipin-enriched raft-like microdomains are essential activating platforms for apoptotic signals on mitochondria.Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.Eponym: Barth syndrome.Cellular stress pathways in pediatric bone marrow failure syndromes: many roads lead to neutropenia.Reduction in cholesterol synthesis in response to serum starvation in lymphoblasts of a patient with Barth syndrome.Influence of tissue, diet, and enzymatic remodeling on cardiolipin fatty acyl profile.Characterization of lymphoblast mitochondria from patients with Barth syndrome.Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome.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?Tafazzin knockdown causes hypertrophy of neonatal ventricular myocytes.Preliminary evidence for a cognitive phenotype in Barth syndrome.Remodeling of cardiolipin by phospholipid transacylation.Assessing olfactory functions in patients with Barth syndrome.Fungal metabolic model for type I 3-methylglutaconic aciduria.Identification and characterization of human cardiolipin synthase.Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease.Stroke associated with Barth syndrome.Clinicopathologic conference: Barth Syndrome.Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history.Loss of Cardiolipin Leads to Perturbation of Acetyl-CoA Synthesis.
P2860
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P2860
description
im Januar 1999 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в 1999
@uk
type
P2093
P356
P2093
E. A. M. Janssen
P. G. Barth
R. J. A. Wanders
P2888
P304
P356
10.1023/A:1005568609936
P50
P577
1999-01-01T00:00:00Z
P6179
1040472230