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   Articles with "barth syndrome" as a keyword



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

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recommendations! Published in 2021 at "Journal of inherited metabolic disease"

DOI: 10.1002/jimd.12425

Abstract: Barth syndrome is an X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia, caused by deleterious variants in TAFAZZIN. This gene encodes a phospholipid-lysophospholipid transacylase that is required for the remodeling of the mitochondrial phospholipid… read more here.

Keywords: barth syndrome; blood spot; cardiolipin;

A simple mechanistic explanation for Barth syndrome and cardiolipin remodeling.

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recommendations! Published in 2021 at "Journal of inherited metabolic disease"

DOI: 10.1002/jimd.12445

Abstract: Barth syndrome is a multisystem disorder caused by an abnormal metabolism of the mitochondrial lipid cardiolipin. In this review, we discuss physical properties, biosynthesis, membrane assembly, and function of cardiolipin. We hypothesize that cardiolipin reduces… read more here.

Keywords: mechanistic explanation; explanation barth; barth syndrome; cardiolipin ... See more keywords

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

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recommendations! Published in 2021 at "Journal of Inherited Metabolic Disease"

DOI: 10.1002/jimd.12459

Abstract: Barth syndrome (BTHS) is an X‐linked disorder that results from mutations in the TAFAZZIN gene, which encodes a phospholipid transacylase responsible for generating the mature form of cardiolipin in inner mitochondrial membranes. BTHS patients develop… read more here.

Keywords: oxidation; acid oxidation; barth syndrome; long chain ... See more keywords

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

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recommendations! Published in 2023 at "Molecular genetics & genomic medicine"

DOI: 10.1002/mgg3.2190

Abstract: Barth syndrome (BTHS) is an X-linked disorder characterized by cardiomyopathy, skeletal myopathy, and 3-methylglutaconic aciduria. The causative pathogenic variants for BTHS are in TAZ, which encodes a putative acyltransferase named tafazzin and is involved in… read more here.

Keywords: barth syndrome; severe heart; case; case infantile ... See more keywords

Adaptive mechanisms in pancreatic islets counteract mitochondrial dysfunction in Barth syndrome

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recommendations! Published in 2025 at "Diabetologia"

DOI: 10.1007/s00125-025-06575-4

Abstract: Barth syndrome is a mitochondrial disorder caused by Tafazzin (TAZ) mutations, which impair cardiolipin remodelling and contribute to systemic metabolic alterations. While islet dysfunction has been implicated in Barth syndrome, its underlying mechanisms remain unknown.… read more here.

Keywords: dysfunction; barth syndrome; islet; secretion ... See more keywords

Glucose Uptake and Triacylglycerol Synthesis Are Increased in Barth Syndrome Lymphoblasts

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recommendations! Published in 2017 at "Lipids"

DOI: 10.1007/s11745-017-4232-7

Abstract: Barth syndrome (BTHS) is an X-linked genetic disease resulting in loss of cardiolipin (Ptd2Gro). Patients may be predisposed to hypoglycemia and exhibit increases in whole-body glucose disposal rates and a higher fat mass percentage. We… read more here.

Keywords: barth syndrome; uptake triacylglycerol; increase; glucose uptake ... See more keywords

Cardiac mitochondrial structure and function in tafazzin-knockdown mice.

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recommendations! Published in 2018 at "Mitochondrion"

DOI: 10.1016/j.mito.2018.10.005

Abstract: Mutations in the tafazzin gene are the basis of Barth syndrome. The tafazzin protein is responsible for the synthesis of cardiolipin. Doxycycline-induced tafazzin-knockdown mice have been used as a model for Barth syndrome. In the… read more here.

Keywords: tafazzin knockdown; knockdown mice; barth syndrome; cardiac mitochondrial ... See more keywords

Restoration of mitophagy ameliorates cardiomyopathy in Barth syndrome

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recommendations! Published in 2022 at "Autophagy"

DOI: 10.1080/15548627.2021.2020979

Abstract: ABSTRACT Barth syndrome (BTHS) is an X-linked genetic disorder caused by mutations in the TAFAZZIN/Taz gene which encodes a transacylase required for cardiolipin remodeling. Cardiolipin is a mitochondrial signature phospholipid that plays a pivotal role… read more here.

Keywords: cardiolipin; barth syndrome; mitophagy; restoration mitophagy ... See more keywords

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

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recommendations! Published in 2024 at "Human molecular genetics"

DOI: 10.1093/hmg/ddae152

Abstract: Barth syndrome (BTHS) is a rare mitochondrial disease caused by pathogenic variants in the gene TAFAZZIN, which leads to abnormal cardiolipin (CL) metabolism on the inner mitochondrial membrane. Although TAFAZZIN is ubiquitously expressed, BTHS involves… read more here.

Keywords: stem cell; barth syndrome; tissue specific; taz deficient ... See more keywords

What Links Neutropenia to Immature Cardiolipin in Patients with Barth Syndrome (tafazzin-deficiency)?

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recommendations! Published in 2019 at "Blood"

DOI: 10.1182/blood-2019-123680

Abstract: Barth syndrome is an inherited X-linked disorder characterized by cardiomyopathy, skeletal muscle myopathy, and neutropenia. The syndrome arises because of inherited mutations in the gene TAZ, resulting in a loss of function of the protein… read more here.

Keywords: barth syndrome; cardiolipin; tafazzin; tafazzin deficiency ... See more keywords

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

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recommendations! Published in 2025 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-025-03693-5

Abstract: Barth syndrome (BTHS) is a rare, X-linked disorder that stems from mutations in the TAFAZZIN (TAZ) gene with varying disease severity among patients. The Barth Syndrome Symptom Assessment (BTHS-SA) is a patient-reported outcome questionnaire developed… read more here.

Keywords: assessment bths; symptom assessment; barth syndrome; syndrome symptom ... See more keywords