Results 41 to 50 of about 2,315 (156)
Phosphatidylglycerol Supplementation Alters Mitochondrial Morphology and Cardiolipin Composition
Membranes, 2022 The pathogenic variant of the TAZ gene is directly associated with Barth syndrome. Because tafazzin in the mitochondria is responsible for cardiolipin (CL) remodeling, all molecules related to the metabolism of CL can affect or be affected by TAZ ...
I Chu +6 more
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Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis
Journal of Lipid Research, 2005 Barth syndrome (BTHS) is an X-linked recessive disorder that is biochemically characterized by low cellular levels of the mitochondrial phospholipid cardiolipin (CL).
Fredoen Valianpour +10 more
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Characterization of Tafazzin Splice Variants from Humans and Fruit Flies [PDF]
Journal of Biological Chemistry, 2009 The tafazzin gene encodes a phospholipid-lysophospholipid transacylase involved in cardiolipin metabolism, but it is not known why it forms multiple transcripts as a result of alternative splicing. Here we studied the intracellular localization, enzymatic activity, and metabolic function of four isoforms of human tafazzin and three isoforms of ...
Yang, Xu +10 more
openaire +2 more sources
Metabolic switch from fatty acid oxidation to glycolysis in knock‐in mouse model of Barth syndrome
EMBO Molecular Medicine, 2023 Mitochondria are central for cellular metabolism and energy supply. Barth syndrome (BTHS) is a severe disorder, due to dysfunction of the mitochondrial cardiolipin acyl transferase tafazzin.
Arpita Chowdhury +20 more
doaj +1 more source
Frontiers in Molecular Biosciences, 2022 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.
Zhuqing Liang +2 more
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Plasmalogen loss caused by remodeling deficiency in mitochondria
Life Science Alliance, 2019 31 P NMR unveils cell type–dependent losses of plasmalogen in the chain remodeling–deficient brain, liver, kidney, and lymphoblast in association with aberrant mitochondrial function and morphology. Lipid homeostasis is crucial in human health.
Tomohiro Kimura +7 more
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Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome [PDF]
Human Molecular GeneticsAnne Hamacher-Brady +2 more
exaly +2 more sources
Journal of Lipid Research, 2013 Barth syndrome is a complex metabolic disorder caused by mutations in the mitochondrial transacylase tafazzin. Recently, an inducible tafazzin shRNA knockdown mouse model was generated to deconvolute the complex bioenergetic phenotype of this disease. To
Michael A. Kiebish +10 more
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Cardiolipin remodeling by TAZ/tafazzin is selectively required for the initiation of mitophagy [PDF]
Autophagy, 2015 Tafazzin (TAZ) is a phospholipid transacylase that catalyzes the remodeling of cardiolipin, a mitochondrial phospholipid required for oxidative phosphorylation. Mutations of TAZ cause Barth syndrome, which is characterized by mitochondrial dysfunction and dilated cardiomyopathy, leading to premature death.
Paul, Hsu +5 more
openaire +2 more sources
Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome
PLoS ONE, 2023 Barth syndrome (BTHS) is an X-linked recessive genetic disorder due to mutations in the Tafazzin (TAFAZZIN) gene that lead to cardiac and skeletal muscle mitochondrial dysfunction.
George G. Schweitzer +7 more
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