Disturbed mitochondrial maturation in cardiolipin remodeling-deficient cardiomyocytes.

Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome.

Generation of a pluripotent embryonic stem cell TAFAZZIN hESC model (WAe009-A-3H) of Barth syndrome.

Effects of Cannabidiol on TAFAZZIN-Deficient B-Lymphoblastoid Cells.

Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome.

2025 FDA TIDES (Peptides and Oligonucleotides) Harvest.

3D bioprinted myocardium patches for rare Barth syndrome: TAZ mutation correction in cardioblasts.

Pharmacological increases in circulating ketones fail to alleviate the hypertrophic cardiomyopathy present in the Tafazzin knockdown mouse model of Barth syndrome.

Elamipretide: First Approval.

Deficient Cardiolipin Remodeling Alters Muscle Fiber Composition and Neuromuscular Connectivity in Barth Syndrome.

Real-world disease burden and health care resource utilization for patients with Barth syndrome.

Elamipretide: The first cardiolipin-directed mitochondrial therapeutic for Barth syndrome approved under accelerated approval.

Complex Arrhythmias in Pediatrics and Congenital Heart Disease: Case Review.

Barth syndrome: Natural history in infants and young children.

Adaptive mechanisms in pancreatic islets counteract mitochondrial dysfunction in Barth syndrome.

Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue.

Cardiolipin dynamics promote membrane remodeling by mitochondrial OPA1.

The B-lymphoblastoid model in Barth syndrome.

Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models.

Pyrimidine Nucleos(t)ide Therapy in Patients With Thymidine Kinase 2 Deficiency: A Multicenter Retrospective Chart Review Study.

Genetic suppression features ABHD18 as a Barth syndrome therapeutic target.

A novel TAFAZZIN gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report.

Elamipretide in the Management of Barth Syndrome: Current Evidence and a Case Report.

Calmodulin enhancement of mitochondrial calcium uniporter function in isolated mitochondria.

Granulopoietic Dysregulation in a Patient-Tailored Mouse Model of Barth Syndrome.

Cardiolipin acyl chain composition tailors the conformation of mammalian ATP synthase dimers.

Cardiac pathology in a patient with a novel pathogenic variant c.703del (p.Ile235SerfsTer4) of the TAFAZZIN gene.

A review of disorders of cardiolipin metabolism: Pathophysiology, clinical presentation and future directions.

Cardiac Transplantation Does Not Improve Exercise Tolerance, Muscle Mass, or Substrate Metabolism in Barth Syndrome.

Tafazzin-deficient zebrafish display mitochondrial dysfunction, neutropenia, and metabolic defects without myopathy.

Allogenic mitochondria transfer improves cardiac function in iPS-cell-differentiated cardiomyocytes of a patient with Barth syndrome.

Mechano-energetic uncoupling in heart failure.

Mitochondria-Homing Drug Mitochonic Acid 5 Improves Barth Syndrome Myopathy in a Human-Induced Pluripotent Stem Cell Model and Barth Syndrome Drosophila Model.

Analysis of neuronal cardiolipin and monolysocardiolipin from biological samples with cyclic ion mobility mass spectrometry.

Emerging roles of pyruvate dehydrogenase phosphatase 1: a key player in metabolic health.

Reproductive decision-making for Barth syndrome carriers: Unexplored complexities.

A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes.

Contemporary insights into elamipretide's mitochondrial mechanism of action and therapeutic effects.

Barth Syndrome: TAFAZZIN Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review.

Initial Psychometric Evaluation of the Barth Syndrome Symptom Assessment (BTHS-SA) for Adolescents and Adults in a Phase 2 Clinical Study.

What can ATP content tell us about Barth syndrome muscle phenotypes?

Signs and symptoms of carriers of non-DMD X-linked neuromuscular diseases: A scoping review.

Solid-state NMR protocols for unveiling dynamics and (drug) interactions of membrane-bound proteins.

Health-related quality of life and family functioning in parents of children with Barth syndrome: an application of the Double ABCX model.

Trends in Research on Hypertrophic Cardiomyopathy and Mitochondria From 2003 to 2023: A Bibliometric Analysis.

[Analysis of 21 cases of Barth syndrome in children].

Tafazzin regulates neutrophil maturation and inflammatory response.

Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report.

Cell-Penetrating Peptide Enhances Tafazzin Gene Therapy in Mouse Model of Barth Syndrome.

Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene.

The Loss of Tafazzin Transacetylase Activity Is Sufficient to Drive Testicular Infertility.

Proteolytic regulation of mitochondrial magnesium channel by m-AAA protease and prohibitin complex.

Expanded-access use of elamipretide in a critically ill patient with Barth syndrome.

Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome.

Barth syndrome: a rare cause of cardiomyopathy in neonates.

Rescue of mitochondrial dysfunction through alteration of extracellular matrix composition in barth syndrome cardiac fibroblasts.

Gpr55 deficiency crucially alters cardiomyocyte homeostasis and counteracts angiotensin II induced maladaption in female mice.

[Barth syndrome in an adult patient: an overview of the problem and case report. A review].

Reduced protein kinase C delta in a high molecular weight complex in mitochondria and elevated creatine uptake into Barth syndrome B lymphoblasts.

Case Report: A Chinese child with Barth syndrome caused by a novel TAFAZZIN mutation.

ECG Findings Are Poor Predictors for Adverse Events and Cardiac Death in Barth Syndrome.

Neurological glycogen storage diseases and emerging therapeutics.

Perturbations in mitochondrial metabolism associated with defective cardiolipin biosynthesis: An in-organello real-time NMR study.

Recent and anticipated novel drug approvals (3Q 2024 through 2Q 2025).

A Barth Syndrome Patient-Derived D75H Point Mutation in TAFAZZIN Drives Progressive Cardiomyopathy in Mice.

How can we use stem cell-derived cardiomyocytes to understand the involvement of energetic metabolism in alterations of cardiac function?

Tafazzin deficiency causes substantial remodeling in the lipidome of a mouse model of Barth Syndrome cardiomyopathy.

The subtherapeutic dose of valproic acid induces the activity of cardiolipin-dependent proteins.

Cardiolipin remodeling maintains the inner mitochondrial membrane in cells with saturated lipidomes.

Dietary linoleic acid supplementation fails to rescue established cardiomyopathy in Barth syndrome.

SS-31 treatment ameliorates cardiac mitochondrial morphology and defective mitophagy in a murine model of Barth syndrome.

Functional diversity among cardiolipin binding sites on the mitochondrial ADP/ATP carrier.

Upregulation of the AMPK-FOXO1-PDK4 pathway is a primary mechanism of pyruvate dehydrogenase activity reduction in tafazzin-deficient cells.

Isolation of Mitochondria for Mitochondrial Supercomplex Analysis from Small Tissue and Cell Culture Samples.

Mitochondrial Calcium Regulation of Cardiac Metabolism in Health and Disease.

Long-term efficacy and safety of elamipretide in patients with Barth syndrome: 168-week open-label extension results of TAZPOWER.

Whole genome sequencing in paediatric channelopathy and cardiomyopathy.

Formation of multiple ion types during MALDI imaging mass spectrometry analysis of Mitragyna speciosa alkaloids in dosed rat brain tissue.

Temporal Effects of Safflower Oil Diet-Based Linoleic Acid Supplementation on Barth Syndrome Cardiomyopathy.

Upregulation of the AMPK-FOXO1-PDK4 pathway is a primary mechanism of pyruvate dehydrogenase activity reduction and leads to increased glucose uptake in tafazzin-deficient cells.

Decreased pyruvate dehydrogenase activity in Tafazzin-deficient cells is caused by dysregulation of pyruvate dehydrogenase phosphatase 1 (PDP1).

The Impact of Raising Children with Barth Syndrome on Parental Health-Related Quality of Life and Family Functioning: Preliminary Reliability and Validity of the PedsQL™ Family Impact Module.

A monolysocardiolipin-cytochrome c peroxidase causes defects in Barth syndrome.

Anomalous peroxidase activity of cytochrome c is the primary pathogenic target in Barth syndrome.

Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome.

One episode of low intensity aerobic exercise prior to systemic AAV9 administration augments transgene delivery to the heart and skeletal muscle.

Phenotypic Characterization of Female Carrier Mice Heterozygous for Tafazzin Deletion.

A novel panel of Drosophila TAFAZZIN mutants in distinct genetic backgrounds as a resource for therapeutic testing.

[Analysis of a Chinese pedigree affected with rare heart diseases due to variants of TNNI3 and TAZ genes].

Cardiolipin deficiency leads to the destabilization of mitochondrial magnesium channel MRS2 in Barth syndrome.

Mitochondrial phospholipid metabolism in health and disease.

Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome.

Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome.

Current avenues of gene therapy in Pompe disease.

Recent Advances in Methods for Analyzing Lipids and Fatty Acids.

The multifaceted roles of the brain glycogen.

FGF21 and GDF15 are elevated in Barth Syndrome and are correlated to important clinical measures.

Metabolic switch from fatty acid oxidation to glycolysis in knock-in mouse model of Barth syndrome.

Single Cell Transcriptomic Analysis in a Mouse Model of Barth Syndrome Reveals Cell-Specific Alterations in Gene Expression and Intercellular Communication.

Temporal evolution of the heart failure phenotype in Barth syndrome and treatment with elamipretide.

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.

Reduction in mRNA Expression of the Neutrophil Chemoattract Factor CXCL1 in Pseudomonas aeruginosa Treated Barth Syndrome B Lymphoblasts.

A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene.

Quality of life in Barth syndrome.

Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?

Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data.

Narrative review of pediatric heart failure in the age of precision medicine.

Genetic modifiers modulate phenotypic expression of tafazzin deficiency in a mouse model of Barth syndrome.

Functional regeneration of dilated cardiomyopathy by transcatheter bilateral pulmonary artery banding: first-in-human case series.

Phenotypic Characterization of Male Tafazzin-Knockout Mice at 3, 6, and 12 Months of Age.

Cardiolipin metabolism regulates expression of muscle transcription factor MyoD1 and muscle development.

Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases.

Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome.

Barth Syndrome: Psychosocial Impact and Quality of Life Assessment.

Cardiolipin, and not monolysocardiolipin, preferentially binds to the interface of complexes III and IV.

Prenatal case report of Barth syndrome caused by novel TAFAZZIN mutation: Clinical characteristics of fetal dilated cardiomyopathy with ascites.

Beneficial effects of SS-31 peptide on cardiac mitochondrial dysfunction in tafazzin knockdown mice.

Repeatability assessment for simultaneous measurement of arterial blood flow, venous oxygen saturation, and muscle perfusion following dynamic exercise.

Generation of a homozygous TAZ knockout hESCs line by CRISPR/Cas9 system.

Stimulating myocardial pyruvate dehydrogenase activity fails to alleviate cardiac abnormalities in a mouse model of human Barth syndrome.

Myelodysplastic syndrome in a patient with Barth syndrome (3-methylglutaconic aciduria type II).

Tafazzin deficiency attenuates anti-cluster of differentiation 40 and interleukin-4 activation of mouse B lymphocytes.

Stimulating the sir2-spargel axis rescues exercise capacity and mitochondrial respiration in a Drosophila model of Barth syndrome.

Corrigendum: Re-expression of tafazzin isoforms in TAZ-deficient C6 glioma cells restores cardiolipin composition but not proliferation rate and alterations in gene expression.

Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome.

Matrix produced by diseased cardiac fibroblasts affects early myotube formation and function.

Myocardial disturbances of intermediary metabolism in Barth syndrome.

Re-Expression of Tafazzin Isoforms in TAZ-Deficient C6 Glioma Cells Restores Cardiolipin Composition but Not Proliferation Rate and Alterations in Gene Expression.

Tafazzin deficiency in mouse mesenchymal stem cells promote reprogramming of activated B lymphocytes toward immunosuppressive phenotypes.

Hypogammaglobulinaemia and B cell lymphopaenia in Barth syndrome.

Current Knowledge on the Role of Cardiolipin Remodeling in the Context of Lipid Oxidation and Barth Syndrome.

N-oleoylethanolamide treatment of lymphoblasts deficient in Tafazzin improves cell growth and mitochondrial morphology and dynamics.

AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives.

Cancer Incidence and Mortality According to Pre-Existing Heart Failure in a Community-Based Cohort.

Barth Syndrome Cardiomyopathy: An Update.

Phosphatidylglycerol Supplementation Alters Mitochondrial Morphology and Cardiolipin Composition.

Antioxidant system disturbances and mitochondrial dysfunction induced by 3-methyglutaric acid in rat heart are prevented by bezafibrate.

Impaired surface marker expression in stimulated Epstein-Barr virus transformed lymphoblasts from Barth Syndrome patients.

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome.

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.

Extended recovery of cardiac function after severe infantile cardiomyopathy presentation of Barth syndrome.

Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome.

Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome.

NAD supplementation improves mitochondrial performance of cardiolipin mutants.

Restoration of mitophagy ameliorates cardiomyopathy in Barth syndrome.

Hereditary myopathies associated with hematological abnormalities.

A new murine model of Barth syndrome neutropenia links TAFAZZIN deficiency to increased ER stress-induced apoptosis.

"I Want That Life a Lot…How on Earth Do I Get That?" Examining Challenges for Men With Barth Syndrome in Their Transitions to Adulthood.

Blocking phosphatidylglycerol degradation in yeast defective in cardiolipin remodeling results in a new model of the Barth syndrome cellular phenotype.

Barth syndrome and the many fascinating aspects of cardiolipin.

Long-chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy.

Studying Lipid-Related Pathophysiology Using the Yeast Model.

Resistance exercise training with protein supplementation improves skeletal muscle strength and improves quality of life in late adolescents and young adults with Barth syndrome: A pilot study.

Tafazzin deficiency in mouse mesenchymal stem cells potentiates their immunosuppression and impairs activated B lymphocyte immune function.

Current and future treatment approaches for Barth syndrome.

Cardiolipin remodeling enables protein crowding in the inner mitochondrial membrane.

Interplay between cardiolipin and plasmalogens in Barth syndrome.

Loss of Mitochondrial Ca2+ Uniporter Limits Inotropic Reserve and Provides Trigger and Substrate for Arrhythmias in Barth Syndrome Cardiomyopathy.

Cardiolipin function in the yeast S. cerevisiae and the lessons learned for Barth syndrome.

Elamipretide for Barth syndrome cardiomyopathy: gradual rebuilding of a failed power grid.

A simple mechanistic explanation for Barth syndrome and cardiolipin remodeling.

Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K.

Case report of Barth syndrome: a forgotten cause of cardiomyopathy.

The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin-deficient cells.

MCU-complex-mediated mitochondrial calcium signaling is impaired in Barth syndrome.

The Influence of Supplemental Dietary Linoleic Acid on Skeletal Muscle Contractile Function in a Rodent Model of Barth Syndrome.

Barth Syndrome Foundation: From humble beginnings to becoming an integral partner.

Mechano-energetic aspects of Barth syndrome.

An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio.

Experimental models of Barth syndrome.

Clinical presentation and natural history of Barth Syndrome: An overview.

Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome.

An echocardiographic finding mimicking tricuspid atresia in a neonate with dilated cardiomyopathy.

Reduced protein kinase C delta association with a higher molecular weight complex in mitochondria of Barth Syndrome lymphoblasts.

A 9-year-old male with Barth syndrome and cardiac transplant presenting with hyperviscosity syndrome caused by EBV-negative plasmacytoid posttransplant lymphoproliferative disorder.

Favorable outcomes after heart transplantation in Barth syndrome.

Diverse mitochondrial abnormalities in a new cellular model of TAFFAZZIN deficiency are remediated by cardiolipin-interacting small molecules.

High-resolution mass spectrometric analysis of cardiolipin profiles in Barth syndrome.

Neurological & psychological aspects of Barth syndrome: Clinical manifestations and potential pathogenic mechanisms.

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.

Cardiolipin Remodeling Defects Impair Mitochondrial Architecture and Function in a Murine Model of Barth Syndrome Cardiomyopathy.

Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults.

Treatment of Barth Syndrome by Cardiolipin Manipulation (CARDIOMAN) With Bezafibrate: Protocol for a Randomized Placebo-Controlled Pilot Trial Conducted in the Nationally Commissioned Barth Syndrome Service.

Standard of care for lipedema in the United States.

Barth syndrome-related cardiomyopathy is associated with a reduction in myocardial glucose oxidation.

Barth syndrome with severe dilated cardiomyopathy and growth hormone resistance: a case report.

Increased Reactive Oxygen Species-Mediated Ca2+/Calmodulin-Dependent Protein Kinase II Activation Contributes to Calcium Handling Abnormalities and Impaired Contraction in Barth Syndrome.

Myths to debunk: the non-compacted myocardium.

Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets.

A case undergoing cocktail therapy for cardiac involvement in Barth syndrome.

Dynamic Cardiolipin Synthesis Is Required for CD8+ T Cell Immunity.