Results 31 to 40 of about 2,732 (148)
Barth syndrome mutations that cause tafazzin complex lability [PDF]
, 2011 Deficits in mitochondrial function result in many human diseases. The X-linked disease Barth syndrome (BTHS) is caused by mutations in the tafazzin gene TAZ1.
Kevin Whited +9 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
doaj +1 more source
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
doaj +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 +27 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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Loss of mitochondrial quality control protein Yme1 is deleterious to the viability of yeast lacking tafazzin. [PDF]
, 2014 Role of mitophagy and mitochondrial quality-control in Barth syndrome.The Saccharomyces cerevisiae TAZ1 gene is an orthologue of human TAZ; both encode the protein tafazzin.
Gaspard, Gerard
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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
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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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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