Results 21 to 30 of about 3,950 (204)

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   +2 more sources

Tafazzin knockdown in murine mesenchymal stem cells enhances the tafazzin knockdown mediated elevation in interleukin-10 secretion from murine B lymphocytes

Archives of Microbiology & Immunology, 2023
Barth Syndrome is a rare X-linked genetic disorder caused by mutations in the TAFAZZIN gene. We recently demonstrated that tafazzin (Taz) protein deficiency in murine mesenchymal stems (MSCs) reduces immune function of activated wild type (WT) B ...
Hana M. Zegallai, Ejlal Abu-El-Rub, G. Hatch   +2 more
semanticscholar   +2 more sources

Re-Expression of Tafazzin Isoforms in TAZ-Deficient C6 Glioma Cells Restores Cardiolipin Composition but Not Proliferation Rate and Alterations in Gene Expression

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, Matthias Elsner, Christian Scharf, Stefan Simm, Katrin Borucki, Daniela Peter, Michael Lalk, Karen Methling, Michael Linnebacher, Mathias Krohn, Carmen Wolke, Uwe Lendeckel   +11 more
doaj   +2 more sources

Beneficial effects of SS-31 peptide on cardiac mitochondrial dysfunction in tafazzin knockdown mice

Scientific Reports, 2022
Barth Syndrome (BTHS), a genetic disease associated with early-onset cardioskeletal myopathy, is caused by loss-of-function mutations of the TAFAZZIN gene, which is responsible for remodeling the mitochondrial phospholipid cardiolipin (CL).
Silvia Russo, Domenico De Rasmo, Anna Signorile, Angela Corcelli, Simona Lobasso   +4 more
doaj   +2 more sources

Barth syndrome mutations that cause tafazzin complex lability [PDF]

Journal of Cell Biology, 2011
Complexes containing tafazzin, which remodels newly synthesized cardiolipin, are destabilized by mutations associated with Barth ...
Barth, Barth, Beranek, Bestwick, Bione, Brandner, Calvo, Calvo, Carla M. Koehler, Claypool, Claypool, Claypool, Daum, DiMauro, Djavadi-Ohaniance, Dunn, Dunn, Ernster, Gebert, Glick, Gonzalvez, Haas, Han, Han, Ho, Horst, Houtkooper, Houtkooper, Hwang, Kevin Whited, Koehler, Kulik, Leonhard, Leonhard, Luft, Luft, Ma, Maccecchini, McKenzie, Metzger, Ohashi, Pagliarini, Panneels, Poyton, Rabl, Riezman, Santi Srijumnong, Scherer, Schlame, Schlame, Schlame, Sickmann, Steven M. Claypool, Tamura, Tatsuta, Tatsuta, Thorburn, Thorburn, Valianpour, Vaz, Wach, Xianlin Han, Xu, Yang   +63 more
core   +8 more sources

A novel panel of Drosophila TAFAZZIN mutants in distinct genetic backgrounds as a resource for therapeutic testing.

PLoS ONE, 2023
Barth Syndrome is a rare, X-linked disorder caused by mutation of the gene TAFAZZIN (TAZ). The corresponding Tafazzin protein is involved in the remodeling of cardiolipin, a phospholipid with critical roles in mitochondrial function.
Kristin Richardson, Robert Wessells
doaj   +2 more sources

Diminished exercise capacity and mitochondrial bc1 complex deficiency in tafazzin-knockdown mice. [PDF]

Frontiers in Physiology, 2013
The phospholipid, cardiolipin, is essential for maintaining mitochondrial structure and optimal function. Cardiolipin-deficiency in humans, Barth syndrome, is characterized by exercise intolerance, dilated cardiomyopathy, neutropenia and 3-methyl ...
Corey ePowers, Yan eHuang, Arnold W Strauss, Zaza eKhuchua   +3 more
doaj   +3 more sources

Tafazzin gene mutations are uncommon causes of dilated cardiomyopathy in adults [PDF]

Cardiogenetics, 2011
Barth syndrome is an X-linked genetic condition featuring neutropenia, skeletal myopathy, and dilated cardiomyopathy in boys due to tafazzin (TAZ) mutations.
Matthew Taylor, Dobromir Slavov, Ernesto Salcedo, Xiao Zhu, Deborah Ferguson, Jean Jirikowic, Andrea Di Lenarda, Gianfranco Sinagra, Luisa Mestroni   +8 more
doaj   +4 more sources

Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria [PDF]

Journal of Biological Chemistry, 2020
Barth syndrome is a mitochondrial myopathy resulting from mutations in the tafazzin (TAZ) gene encoding a phospholipid transacylase required for cardiolipin remodeling.
Catherine H. Le, Lindsay G. Benage, K. Specht, Lance C. Li Puma, C. Mulligan, A. Heuberger, J. Prenni, S. Claypool, K. Chatfield, G. Sparagna, A. Chicco   +10 more
semanticscholar   +3 more sources

Aim24 and MICOS modulate respiratory function, tafazzin-related cardiolipin modification and mitochondrial architecture

eLife, 2014
Structure and function of mitochondria are intimately linked. In a search for components that participate in building the elaborate architecture of this complex organelle we have identified Aim24, an inner membrane protein. Aim24 interacts with the MICOS
Max Emanuel Harner, Ann-Katrin Unger, Toshiaki Izawa, Dirk M Walther, Cagakan Özbalci, Stefan Geimer, Fulvio Reggiori, Britta Brügger, Matthias Mann, Benedikt Westermann, Walter Neupert   +10 more
doaj   +5 more sources