An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio.
Sign Up to like & getrecommendations! 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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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
Sign Up to like & getrecommendations! 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.
Sign Up to like & getrecommendations! 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
Glucose Uptake and Triacylglycerol Synthesis Are Increased in Barth Syndrome Lymphoblasts
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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.
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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
What Links Neutropenia to Immature Cardiolipin in Patients with Barth Syndrome (tafazzin-deficiency)?
Sign Up to like & getrecommendations! 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
Myocardial disturbances of intermediary metabolism in Barth syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cardiovascular Medicine"
DOI: 10.3389/fcvm.2022.981972
Abstract: Barth Syndrome (BTHS) is a rare X-linked mitochondrial disorder due to mutations in the gene TAFAZZIN, which leads to immature cardiolipin (CL) remodeling and is characterized by the development of cardiomyopathy. The immature CL remodeling… read more here.
Keywords: metabolism; metabolism barth; barth syndrome; disturbances intermediary ... See more keywords
Current Knowledge on the Role of Cardiolipin Remodeling in the Context of Lipid Oxidation and Barth Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Biosciences"
DOI: 10.3389/fmolb.2022.915301
Abstract: Barth syndrome (BTHS, OMIM 302060) is a genetic disorder caused by variants of the TAFAZZIN gene (G 4.5, OMIM 300394). This debilitating disorder is characterized by cardio- and skeletal myopathy, exercise intolerance, and neutropenia. TAFAZZIN… read more here.
Keywords: current knowledge; oxidation; role; barth syndrome ... See more keywords
Reduction in mRNA Expression of the Neutrophil Chemoattract Factor CXCL1 in Pseudomonas aeruginosa Treated Barth Syndrome B Lymphoblasts
Sign Up to like & getrecommendations! Published in 2023 at "Biology"
DOI: 10.3390/biology12050730
Abstract: Barth Syndrome (BTHS) is a rare X-linked genetic disease caused by a mutation in TAFAZZIN, a cardiolipin transacylase. Approximately 70% of patients with BTHS exhibit severe infections due to neutropenia. However, neutrophils from BTHS patients… read more here.
Keywords: cxcl1; pseudomonas aeruginosa; barth syndrome; bths lymphoblasts ... See more keywords