Results 61 to 70 of about 2,720 (174)
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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Impacts of plant tafazzin deficiency on differential gene expression
, 2023 Tafazzin is a mitochondrial protein characterized in mammals and yeast. Tafazzin remodels the fatty acids of cardiolipin, aiding in the proper function of the electron transport chain.
Welti, Ruth +2 more
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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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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
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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
Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria [PDF]
Journal of Biological Chemistry, 2020 Barth syndrome is a mitochondrial myopathy resulting from mutations in the tafazzin (TAZ) gene encoding a phospholipid transacylase required for cardiolipin remodeling. Cardiolipin is a phospholipid of the inner mitochondrial membrane essential for the function of numerous mitochondrial proteins and processes.
Catherine H. Le +10 more
openaire +2 more sources
Deletion of Tafazzin in Cardiomyocytes Results in Dilated Cardiomyopathy [PDF]
, 2020 Cardiolipin, the signature phospholipid of mitochondria, is crucial for mitochondrial function and architecture in the heart. Defects in cardiolipin remodeling processes and metabolism lead to cardiomyopathy, as seen in patients with Barth Syndrome (BTHS)
Zhu, Mason
core +1 more source
, 2022 Barth syndrome is an inherited X-linked disorder that leads to cardiomyopathy, skeletal myopathy and neutropenia. These symptoms result from the loss of function of the enzyme TAFAZZIN, a transacylase located in the inner mitochondrial membrane that is ...
Pu, William T +13 more
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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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