Results 31 to 40 of about 808 (154)

Mouse tafazzin is required for male germ cell meiosis and spermatogenesis [PDF]

, 2015
Barth syndrome is an X-linked mitochondrial disease, symptoms of which include neutropenia and cardiac myopathy. These symptoms are the most significant clinical consequences of a disease, which is increasingly recognised to have a variable presentation.
Bryson, S., Cadalbert, L.C., Ghaffar, F.N., Gottlieb, E., Stevenson, D., Strathdee, D., Vaz, F.M.   +6 more
core   +11 more sources

Myocardial disturbances of intermediary metabolism in Barth syndrome

Frontiers in Cardiovascular Medicine, 2022
Barth Syndrome (BTHS) is a rare X-linked mitochondrial disorder due to mutations in the gene TAFAZZIN, which leads to immature cardiolipin (CL) remodeling and is characterized by the development of cardiomyopathy.
Amanda A. Greenwell, Amanda A. Greenwell, Seyed Amirhossein Tabatabaei Dakhili, Seyed Amirhossein Tabatabaei Dakhili, John R. Ussher, John R. Ussher   +5 more
doaj   +1 more source

Tafazzin deficiency in mouse mesenchymal stem cells promote reprogramming of activated B lymphocytes toward immunosuppressive phenotypes

The FASEB Journal, Volume 36, Issue 8, August 2022., 2022
Abstract Barth Syndrome (BTHS) is a rare X‐linked genetic disorder caused by mutation in the TAFAZZIN gene. Tafazzin (Taz) deficiency in BTHS patients results in an increased risk of infections. Mesenchymal stem cells (MSCs) are well known for their immune‐inhibitory function.
Hana M. Zegallai, Ejlal Abu‐El‐Rub, Folayemi Olayinka‐Adefemi, Laura K. Cole, Genevieve C. Sparagna, Aaron J. Marshall, Grant M. Hatch   +6 more
wiley   +1 more source

An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio

Journal of Inherited Metabolic Disease, Volume 45, Issue 1, Page 29-37, January 2022., 2022
Abstract Barth syndrome is an X‐linked disorder characterized by cardiomyopathy, skeletal myopathy, and neutropenia, caused by deleterious variants in TAFAZZIN. This gene encodes a phospholipid‐lysophospholipid transacylase that is required for the remodeling of the mitochondrial phospholipid cardiolipin (CL).
Frédéric M. Vaz, Henk van Lenthe, Martin A. T. Vervaart, Femke S. Stet, Johanne H. Klinkspoor, Hilary J. Vernon, Susan M. I. Goorden, Riekelt H. Houtkooper, Willem Kulik, Ronald J. A. Wanders   +9 more
wiley   +1 more source

Mechano‐energetic aspects of Barth syndrome

Journal of Inherited Metabolic Disease, Volume 45, Issue 1, Page 82-98, January 2022., 2022
Abstract Energy‐demanding organs like the heart are strongly dependent on oxidative phosphorylation in mitochondria. Oxidative phosphorylation is governed by the respiratory chain located in the inner mitochondrial membrane. The inner mitochondrial membrane is the only cellular membrane with significant amounts of the phospholipid cardiolipin, and ...
Jan Dudek, Christoph Maack
wiley   +1 more source

The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells

Journal of Inherited Metabolic Disease, Volume 45, Issue 1, Page 38-50, January 2022., 2022
Abstract Deficiency of the transacylase tafazzin due to loss of function variants in the X‐chromosomal TAFAZZIN gene causes Barth syndrome (BTHS) with severe neonatal or infantile cardiomyopathy, neutropenia, myopathy, and short stature. The condition is characterized by drastic changes in the composition of cardiolipins, a mitochondria‐specific class ...
Gregor Oemer, Jakob Koch, Yvonne Wohlfarter, Katharina Lackner, Rita E. M. Gebert, Stephan Geley, Johannes Zschocke, Markus A. Keller   +7 more
wiley   +1 more source

MICOS and the mitochondrial inner membrane morphology – when things get out of shape

FEBS Letters, Volume 595, Issue 8, Page 1159-1183, April 2021., 2021
Mitochondria play a key role in cellular signalling, metabolism and energetics. Proper architecture and remodelling of the inner mitochondrial membrane are essential for efficient respiration, apoptosis and quality control in the cell. Several protein complexes including mitochondrial contact site and cristae organizing system (MICOS), F1FO‐ATP ...
Indrani Mukherjee, Mausumi Ghosh, Michael Meinecke   +2 more
wiley   +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

Loss of Mitochondrial Ca ²⁺ Uniporter Limits Inotropic Reserve and Provides Trigger and Substrate for Arrhythmias in Barth Syndrome Cardiomyopathy [PDF]

, 2021
Background: Barth syndrome (BTHS) is caused by mutations of the gene encoding tafazzin, which catalyzes maturation of mitochondrial cardiolipin and often manifests with systolic dysfunction during early infancy.
Abeßer, Marco, Atighetchi, Sarah, Bertero, Edoardo, Brune, Carolin, Böhm, Michael, Carlein, Christopher, Dudek, Jan, Hohl, Mathias, Hoth, Markus, Kappl, Reinhard, Kazakov, Andrey, Kohlhaas, Michael, Kuhn, Michaela, Kutschka, Ilona, Laufs, Ulrich, Maack, Christoph, Müller, Andreas, Münker, Kai, Nickel, Alexander, Prates Roma, Leticia, Rehling, Peter, Schiuma, Anna-Florentine, Schuh, Kai, Schwemmlein, Julia, Sequeira, Vasco, van der Laan, Martin, von der Malsburg, Alexander, von der Malsburg, Karina   +27 more
core   +1 more source

Cardiolipin deficiency in Barth syndrome is not associated with increased superoxide/H2O2 production in heart and skeletal muscle mitochondria

FEBS Letters, Volume 595, Issue 3, Page 415-432, February 2021., 2021
Barth syndrome (BTHS) is a rare X‐linked genetic disorder caused by mutations in the gene encoding the transacylase tafazzin and characterized by loss of cardiolipin and severe cardiomyopathy. Mitochondrial oxidants have been implicated in the cardiomyopathy in BTHS.
Renata L. S. Goncalves, Michael Schlame, Alexander Bartelt, Martin D. Brand, Gökhan S. Hotamışlıgil   +4 more
wiley   +1 more source