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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
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
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
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 
ProteomicsEbselen 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): Mus musculus (Mouse) Homo sapiens (Human) Saccharomyces cerevisiae (Baker's yeast) 
2026-09-03 | PXD072219 | Pride
Barth syndrome  mitochondrial diseases  drug repositioning  ebselen  krebs cycle  cytosolic translation 
UnknownCardiac-specific succinate dehydrogenase deficiency in Barth syndrome.
Not available
S-EPMC4734842 | biostudies-literature
UnknownMitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome.
Not available
S-EPMC4329980 | biostudies-literature
UnknownSeven functional classes of Barth syndrome mutation.
Not available
S-EPMC3606006 | biostudies-literature
TranscriptomicsNkx2.5 regulates Jarid2 during outflow tract morphogenesis
The transcription factor Nkx2.5 is required for specification of pharyngeal arch second heart field (SHF) progenitors that contribute to outflow tract (OFT) and right ventricle (RV) formation. Multiple sets of microarray data were analyzed to identify genes that are candidate targets of Nkx2.5 in th...
ORGANISM(S): Mus musculus 
2010-05-17 | E-GEOD-17936 | biostudies-arrayexpress
UnknownECG Findings Are Poor Predictors for Adverse Events and Cardiac Death in Barth Syndrome.
Not available
S-EPMC11392022 | biostudies-literature
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