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MetabolomicsIntegrated Multi-Omics Mapping of Mitochondrial Dysfunction and Substrate Preference in Barth Syndrome Cardiac Tissue

Barth syndrome (BTHS) is a rare X-linked recessively inherited disorder caused by variants in the TAFAZZIN gene. The pathogenic variants lead to impaired conversion of monolysocardiolipin (MLCL) into mature phospholipid cardiolipin (CL). The accumulation of MLCL and mature CL deficiency is a diag...

2025-09-08 | MTBLS12953 | MetaboLights
MetabolomicsMetabolic Aberrations in Barth Syndrome
Not available
ORGANISM(S): Homo sapiens 
ST000223 | MetabolomicsWorkbench
TranscriptomicsEbselen as a promising treatment in mitochondrial diseases: focus on Barth syndrome and complex I deficiencies
Over the past decade, significant progress improved mitochondrial disorders diagnosis, but effective therapies remain lacking. A drug screening identified Ebselen (EBS) as enhancing oxidative phosphorylation-dependent growth in a yeast model of Barth syndrome, a cardiomyopathy caused by defective ca...
ORGANISM(S): Saccharomyces cerevisiae 
2026-09-03 | E-MTAB-16519 | biostudies-arrayexpress
UnknownBarth Syndrome: Psychosocial Impact and Quality of Life Assessment.
Not available
S-EPMC9784194 | biostudies-literature
ProteomicsAnalysis of neutrophil proteome of Barth syndrome patients
Barth syndrome (BTHS) is a rare genetic disease caused by mutations in the TAFAZZIN gene. It is characterized by neutropenia, cardiomyopathy, and skeletal myopathy. Neutropenia in BTHS is associated with life-threatening infections, yet the molecular and physiological causes of this phenomenon are p...
ORGANISM(S): Homo sapiens (Human) 
2025-02-12 | PXD052714 | Pride
Neutrophil Barth 
TranscriptomicsGenome-wide analysis of gene transcription in myocardium of the doxycycline inducible Tafazzin shRNA knockdown mouse model of Barth syndrome
Analysis of the transcriptome of cardiac tissue from mice trangenically engineered with a doxycycline inducible Tafazzin shRNA knockdown to mimic the loss of function of Tafazzin in Barth syndrome. ShRNA induced knockdown mice were compared to wildtype littermates also fed the doxycyline diet. The...
ORGANISM(S): Mus musculus 
2011-11-05 | E-GEOD-33452 | biostudies-arrayexpress
UnknownUnderstanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study.
Not available
S-EPMC6836365 | biostudies-literature
ProteomicsOmega-3 fatty acid supplementation improves skeletal muscle mitochondrial function in a model of Barth syndrome
The composition of mitochondrial membrane lipids is crucial to cellular respiration, as seen in Barth syndrome (BTHS), a rare disease affecting skeletal muscle, heart, and neutrophils. In BTHS, mutations in the tafazzin (TAZ) gene reduce remodeling of the mitochondrial phospholipid, cardiolipin, res...
ORGANISM(S): Mus musculus (Mouse) 
2026-05-28 | PXD077710 | Pride
Barth syndrome Fish oil diet Tafazzin 
UnknownRestoration of mitophagy ameliorates cardiomyopathy in Barth syndrome.
Not available
S-EPMC9466615 | biostudies-literature
UnknownCardiac and skeletal muscle defects in a mouse model of human Barth syndrome.
Not available
S-EPMC3020775 | biostudies-literature
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