Results 21 to 30 of about 663 (143)

A Novel TAFAZZIN Gene Variant c.525_533del Causing Barth Syndrome and Leading to Heart Transplantation: A Case Report

Frontiers in Pediatrics
IntroductionBarth syndrome (BTHS) is an ultra-rare genetic disease caused by a mutation in the TAFAZZIN gene, located on the X chromosome. This gene codes for the protein tafazzin, which is involved in the metabolism of the mitochondrial phospholipid ...
Joanna Sliwka, Szymon Pawlak, Tomasz Hrapkowicz   +2 more
exaly   +3 more sources

Decreasing cytosolic translation is beneficial to yeast and human Tafazzin-deficient cells [PDF]

Microbial Cell, 2018
Cardiolipin (CL) optimizes diverse mitochondrial processes, including oxidative phosphorylation (OXPHOS). To function properly, CL needs to be unsaturated, which requires the acyltransferase Tafazzin (TAZ).
Godard, François, de Tilques, Maxence de Taffin, Lasserre, Jean-Paul, di Rago, Jean-Paul, Marine Bouhier, Sardin, Elodie, Elodie Sardin, Eric Testet, Bouhier, Marine, de Taffin de Tilques, Maxence, Testet, Eric, Tribouillard-Tanvier, Déborah, Déborah Tribouillard-Tanvier, Jean-Paul Lasserre, Roza Kucharczyk, François Godard, Marina Le Guedard, Le Guedard, Marina, Kucharczyk, Roza, Petit, Patrice X., Patrice X. Petit, Jean-Paul di Rago, Maxence de Taffin de Tilques   +22 more
core   +8 more sources

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, Devrim, Acehan, Bob, Berno, Yang, Xu, Salvatore, Valvo, Mindong, Ren, David L, Stokes, Richard M, Epand   +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, Ashim, Malhotra, Mindong, Ren, Michael, Schlame   +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

The Influence of Supplemental Dietary Linoleic Acid on Skeletal Muscle Contractile Function in a Rodent Model of Barth Syndrome

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, Martin Andonovski, Daislyn Vidal, Madison Farago, Ryan Modafferi, Steven M. Claypool, Paul J. LeBlanc   +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

Prenatal case report of Barth syndrome caused by novel TAFAZZIN mutation: Clinical characteristics of fetal dilated cardiomyopathy with ascites

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, Xu Li, Weiwei Sun, Jian-an Jia, Min Yu, Ruixia Tian   +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, Chisom J. Onu, Linh Vo, Michael W. Schmidtke, Anh Le, Miriam L. Greenberg   +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, Cornelia, Broschk, Andrea, Vollmar, Ottmar, Distl   +3 more
openaire   +2 more sources