Results 31 to 40 of about 2,741 (176)
The Basis for Acyl Specificity in the Tafazzin Reaction [PDF]
Journal of Biological Chemistry, 2017 Tafazzin is a mitochondrial enzyme that transfers fatty acids from phospholipids to lysophospholipids. Mutations in tafazzin cause abnormal molecular species of cardiolipin and the clinical phenotype of Barth syndrome. However, the mechanism by which tafazzin creates acyl specificity has been controversial.
Michael, Schlame, Yang, Xu, Mindong, Ren
openaire +2 more sources
Frontiers in Physiology, 2021 Barth syndrome is a rare and incurable X-linked (male-specific) genetic disease that affects the protein tafazzin (Taz). Taz is an important enzyme responsible for synthesizing biologically relevant cardiolipin (for heart and skeletal muscle, cardiolipin
Mario Elkes +6 more
doaj +1 more source
The Function of Tafazzin, a Mitochondrial Phospholipid–Lysophospholipid Acyltransferase
Journal of Molecular Biology, 2020 Tafazzin is a mitochondrial enzyme that exchanges fatty acids between phospholipids by phospholipid-lysophospholipid transacylation. The reaction alters the molecular species composition and, as a result, the physical properties of lipids. In vivo, the most important substrate of tafazzin is the mitochondria-specific lipid cardiolipin.
Michael, Schlame, Yang, Xu
openaire +3 more sources
Frontiers in Pediatrics, 2022 Barth syndrome (BTHS) is a rare X-linked recessive genetic disease, which appears in infancy with myocardial and skeletal muscle diseases, neutropenia, growth retardation, and other clinical features.
Xuliang Zhao +5 more
doaj +1 more source
Studying Lipid-Related Pathophysiology Using the Yeast Model
Frontiers in Physiology, 2021 Saccharomyces cerevisiae, commonly known as baker’s yeast, is one of the most comprehensively studied model organisms in science. Yeast has been used to study a wide variety of human diseases, and the yeast model system has proved to be an especially ...
Tyler Ralph-Epps +5 more
doaj +1 more source
Frontiers in Genetics, 2022 Tafazzin—an acyltransferase—is involved in cardiolipin (CL) remodeling. CL is associated with mitochondrial function, structure and more recently with cell proliferation. Various tafazzin isoforms exist in humans.
Gayatri Jagirdar +11 more
doaj +1 more source
Evaluation of Tafazzin as Candidate for Dilated Cardiomyopathy in Irish Wolfhounds [PDF]
Journal of Heredity, 2007 Dilated cardiomyopathy (DCM) is a common disease in humans and dogs. Large-breed dogs and especially Irish wolfhounds belong to the frequently affected breeds. Male Irish wolfhounds show a significantly higher prevalence of DCM than females. Therefore, we evaluated X chromosome markers for linkage with DCM as well as a human candidate gene on the X ...
Ute, Philipp +3 more
openaire +2 more sources
Drosophila tafazzinmutants have impaired exercise capacity [PDF]
Physiological Reports, 2018 Cardiolipin (CL) is a mitochondrial phospholipid that helps maintain normal structure of the inner mitochondrial membrane and stabilize the protein complexes of the electron transport chain to promote efficient ATP synthesis. Tafazzin, an acyl-transferase, is required for synthesis of the mature form of CL.
Damschroder, Deena +2 more
openaire +2 more sources
A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes [PDF]
Disease Models & MechanismsErika Yazawa +7 more
doaj +2 more sources
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
doaj +1 more source