Results 31 to 40 of about 2,620 (178)
Tafazzin senses curvature [PDF]
Nature Chemical Biology, 2012 The phospholipid-lysophospholipid transacylase tafazzin is responsible for enrichment of the cardiolipin fraction of mitochondria with tetralinoleoyl-cardiolipin. The specificity for linoleoyl hydrocarbon chains is now explained by the specific action of tafazzin on negatively curved lipid monolayers.
Michael, Schlame +7 more
openaire +5 more sources
The Enzymatic Function of Tafazzin [PDF]
Journal of Biological Chemistry, 2006 Tafazzin is a putative enzyme that is involved in cardiolipin metabolism, it may carry mutations responsible for Barth syndrome. To identify the biochemical reaction catalyzed by tafazzin, we expressed the full-length isoform of Drosophila melanogaster tafazzin in a baculovirus-Sf9 insect cell system.
Yang, Xu +3 more
openaire +2 more sources
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
, 2022 Barth syndrome (BTHS) is a rare X-linked genetic disease classically characterized by cardiomyopathy, skeletal myopathy, and neutropenia. It is caused by mutations in the TAFAZZIN gene, which codes for the protein tafazzin (Taz), and this results in ...
Zegallai, Hana
core +2 more sources
Barth Syndrome: <i>TAFAZZIN</i> Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review. [PDF]
Genes (Basel)Barth syndrome (BTHS) is inherited through an X-linked pattern. The gene is located on Xq28. Male individuals who inherit the TAFAZZIN pathogenic variant will have the associated condition, while female individuals who inherit the TAFAZZIN pathogenic ...
Sergi CM.
europepmc +2 more sources
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
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
A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes [PDF]
Disease Models & MechanismsErika Yazawa +7 more
doaj +2 more sources