Results 31 to 40 of about 3,514 (179)

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. Cardiolipin is a phospholipid of the inner mitochondrial membrane essential for the function of numerous mitochondrial proteins and processes.
Catherine H. Le, Lindsay G. Benage, Kalyn S. Specht, Lance C. Li Puma, Christopher M. Mulligan, Adam L. Heuberger, Jessica E. Prenni, Steven M. Claypool, Kathryn C. Chatfield, Genevieve C. Sparagna, Adam J. Chicco   +10 more
openaire   +2 more sources

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

The enigmatic role of tafazzin in cardiolipin metabolism

Biochimica et Biophysica Acta (BBA) - Biomembranes, 2009
The mitochondrial phospholipid cardiolipin plays an important role in cellular metabolism as exemplified by its involvement in mitochondrial energy production and apoptosis. Following its biosynthesis, cardiolipin is actively remodeled to achieve its final acyl composition.
HOUTKOOPER RH, TURKENBURG M, POLL THE BT, KARALL D, PÉREZ CERDÁ C, MORRONE, AMELIA, MALVAGIA S, WANDERS RJ, KULIK W, VAZ F.M.   +9 more
openaire   +3 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   +1 more source

Defining functional classes of Barth syndrome mutation in humans [PDF]

, 2016
The X-linked disease Barth syndrome (BTHS) is caused by mutations in TAZ; TAZ is the main determinant of the final acyl chain composition of the mitochondrial-specific phospholipid, cardiolipin.
Claypool, Steven M., Galbraith, Laura, Gottlieb, Eyal, Herndon, Jenny, Koehler, Carla M., Lu, Ya-Lin, Lu, Ya-Wen, Luyf, Angela, McCaffery, J.Michael, Pras-Raves, Mia, Van Kampen, Antoine, Vaz, Frederic M., Vervaart, Martin   +12 more
core   +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
AbstractBarth Syndrome is a rare X-linked genetic disorder caused by mutations in theTAFAZZINgene. We recently demonstrated that tafazzin (Taz) protein deficiency in murine mesenchymal stems (MSCs) reduces immune function of activated wild type (WT) B lymphocytes.
Hana M. Zegallai, Ejlal Abu-El-Rub, Grant M. Hatch   +2 more
openaire   +1 more source

Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome [PDF]

, 2017
Barth syndrome (BTHS) is an X‐linked condition characterized by altered cardiolipin metabolism and cardioskeletal myopathy. We sought to compare cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with BTHS and unaffected
Altschuld, American College of Sports Medicine, Bahi, Barth, Bashir, Bione, Bissler, Cade, Cade, Chance, Chance, Conway, Edwards, El-Sharkawy, Gomez, Gonzalvez, Hiona, Hom, Hudsmith, Ingwall, Kemp, Kemp, Kemp, Kemp, Kushmerick, Lang, Lanza, Lanza, Larson-Meyer, Layec, Liu, Matthews, Meyer, Meyer, Minotti, Naressi, Nascimben, Neubauer, Powers, Ratel, Roussel, Sapega, Schlame, Sgobbo, Smith, Spencer, Spencer, Spoladore, Takahashi, Taylor, Taylor, Thaveau, Thompson, Tonson, Vanhamme, Wang, Wasserman, Waters, Xu, Yao, Zhang, Zoll   +61 more
core   +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

Characterization of Tafazzin Splice Variants from Humans and Fruit Flies [PDF]

Journal of Biological Chemistry, 2009
The tafazzin gene encodes a phospholipid-lysophospholipid transacylase involved in cardiolipin metabolism, but it is not known why it forms multiple transcripts as a result of alternative splicing. Here we studied the intracellular localization, enzymatic activity, and metabolic function of four isoforms of human tafazzin and three isoforms of ...
Yang, Xu, Shali, Zhang, Ashim, Malhotra, Irit, Edelman-Novemsky, Jinping, Ma, Antonina, Kruppa, Carolina, Cernicica, Steven, Blais, Thomas A, Neubert, Mindong, Ren, Michael, Schlame   +10 more
openaire   +2 more sources

Cardiac Transplantation Does Not Improve Exercise Tolerance, Muscle Mass, or Substrate Metabolism in Barth Syndrome. [PDF]

JIMD Rep
ABSTRACT Barth syndrome (BTHS) is a rare X‐linked recessive disorder characterized by mutations in the TAFAZZIN gene, leading to mitochondrial dysfunction, cardioskeletal myopathy, neutropenia, exercise intolerance, and growth delay. While cardiac transplantation can improve heart function in BTHS patients, the metabolic effects of this procedure ...
Cade WT, Bohnert KL, Peterson LR, Fuentes LL, Poehlein E, Green CL, Pacak CA, Byrne BJ, Reeds DN, Bashir A, Feingold B, Taylor C.   +11 more
europepmc   +2 more sources