Results 41 to 50 of about 663 (143)
Phenotypic Characterization of Male Tafazzin-Knockout Mice at 3, 6, and 12 Months of Age
Biomedicines, 2023 Barth syndrome (BTHS) is an X-linked mitochondrial disease caused by mutations in the gene encoding for tafazzin (TAZ), a key enzyme in the remodeling of cardiolipin.
Michelle V. Tomczewski +4 more
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, 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 +27 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
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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
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
doaj +1 more source
A cell penetrating peptide enhances tafazzin gene therapy in a mouse model of Barth Syndrome [PDF]
Barth Syndrome (BTHS) is an early onset, lethal X-linked disorder caused by a mutation in tafazzin (TAFAZZIN), a mitochondrial acyltransferase that remodels monolysocardiolipin (MLCL) to mature cardiolipin (CL) and is essential for normal mitochondrial ...
Martin, Gregory L. +11 more
core +1 more source
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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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
core
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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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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