Results 51 to 60 of about 809 (138)

Advances in methods to analyse cardiolipin and their clinical applications [PDF]

, 2022
Cardiolipin (CL) is a mitochondria-exclusive phospholipid, primarily localised within the inner mitochondrial membrane, that plays an essential role in mitochondrial architecture and function.
Bautista, Javier S, Falabella, Micol, Flannery, Padraig J, Hanna, Michael G, Heales, Simon JR, Pitceathly, Robert DS, Pope, Simon AS   +6 more
core   +1 more source

Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome

Journal of Lipid Research, 2006
Barth Syndrome (BTHS) is an X-linked recessive disorder that results in abnormal metabolism of the mitochondrial phospholipid cardiolipin (CL). CLs are decreased and monolysocardiolipins (MLCLs), intermediates in CL metabolism, are increased in a variety
Michiel Adriaan van Werkhoven, David Ross Thorburn, Agi Kyra Gedeon, James Jonathon Pitt   +3 more
doaj   +1 more source

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

Increased mtDNA abundance and improved function in human Barth syndrome patient fibroblasts following AAV-TAZ gene delivery [PDF]

, 2019
Barth syndrome (BTHS) is a rare, X-linked, mitochondrial disorder caused by mutations in the gene encoding tafazzin. BTHS results in cardiomyopathy, muscle fatigue, and neutropenia in patients.
Byrne, Barry J, Cade, W. T, Kang, Peter B, Pacak, Christina A, Ramanathan, Manash, Soustek, Meghan, Sriramvenugopal, Mughil, Suzuki-Hatano, Silveli   +7 more
core   +2 more sources

Barth Syndrome: Psychosocial Impact and Quality of Life Assessment

Journal of Cardiovascular Development and Disease, 2022
Background: Barth syndrome (BTHS) is a rare X-linked genetic disease that affects multiple systems and leads to complex clinical manifestations. Although a considerable amount of research has focused on the physical aspects of the disease, less has ...
Anandbir Bath, Oguz Akbilgic, David Wilbanks, Jay Patel, Morgan Wallen, Shereen Haji, Arnab Das, John Alexander, Issa Pour-Ghaz, Deya Alkhatib, Yonglin Huang, Erik Lontok, John Jefferies   +12 more
doaj   +1 more source

Neutropenia in Barth syndrome:characteristics, risks, and management [PDF]

, 2019
PURPOSE OF REVIEW: Barth syndrome (BTHS) is an X-linked disease characterized by defective remodeling of phospholipid side chains in mitochondrial membranes.
Bolyard, Audrey A., Bowen, Valerie M., Dale, David C., Damin, Michaela K., Groves, Sarah J., Mackey, Michael C., Maisenbacher, Melissa K., McCurdy, Katherine R., Newbury-Ecob, Ruth A., Ozsahin, Hulya, Steward, Colin G., Taylor, Carolyn T., Versluys, Birgitta   +12 more
core   +2 more sources

Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome [PDF]

, 2023
UNLABELLED: Barth syndrome (BTHS) is an X-linked recessive genetic disorder due to mutations in the Tafazzin (TAFAZZIN) gene that lead to cardiac and skeletal muscle mitochondrial dysfunction.
Byrne, Barry J, Cade, William Todd, Ditzenberger, Grace L, Finck, Brian N, Hughey, Curtis C, Martino, Michael R, Pacak, Christina A, Schweitzer, George G   +7 more
core   +2 more sources

Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome

Disease Models & Mechanisms, 2017
Cardiolipin (CL) is a diglycerol phospholipid mostly found in mitochondria where it optimizes numerous processes, including oxidative phosphorylation (OXPHOS). To function properly, CL needs to be unsaturated, which requires the acyltransferase tafazzin.
Maxence de Taffin de Tilques, Déborah Tribouillard-Tanvier, Emmanuel Tétaud, Eric Testet, Jean-Paul di Rago, Jean-Paul Lasserre   +5 more
doaj   +1 more source

Peak oxygen uptake (VO2peak) across childhood, adolescence and young adulthood in Barth syndrome: Data from cross-sectional and longitudinal studies. [PDF]

PLoS ONE, 2018
Barth syndrome (BTHS) is an ultra-rare, X-linked recessive disorder characterized by cardio-skeletal myopathy, exercise intolerance, and growth delay. Oxygen uptake during peak exercise (VO2peak) has been shown to be severely limited in individuals with ...
William Todd Cade, Kathryn L Bohnert, Dominic N Reeds, Linda R Peterson, Adam J Bittel, Adil Bashir, Barry J Byrne, Carolyn L Taylor   +7 more
doaj   +1 more source

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