Results 61 to 70 of about 817 (152)

Barth syndrome mutations that cause tafazzin complex lability [PDF]

, 2011
Deficits in mitochondrial function result in many human diseases. The X-linked disease Barth syndrome (BTHS) is caused by mutations in the tafazzin gene TAZ1.
Claypool, Steven M, Whited, Kevin, Srijumnong, Santi, Han, Xianlin, Koehler, Carla M   +4 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

Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data

Orphanet Journal of Rare Diseases, 2023
Background Barth syndrome (BTHS) is a rare genetic disease that is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities and often leads to death in childhood.
Jef Van den Eynde, Bhargava Chinni, Hilary Vernon, W. Reid Thompson, Brittany Hornby, Shelby Kutty, Cedric Manlhiot   +6 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

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

Therapies for Mitochondrial Disease: Past, Present, and Future

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Mitochondrial disease is a diverse group of clinically and genetically complex disorders caused by pathogenic variants in nuclear or mitochondrial DNA‐encoded genes that disrupt mitochondrial energy production or other important mitochondrial pathways. Mitochondrial disease can present with a wide spectrum of clinical features and can often be
Megan Ball, Nicole J. van Bergen, Alison G. Compton, David R. Thorburn, Shamima Rahman, John Christodoulou   +5 more
wiley   +1 more source

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

Journal of Lipid Research, 2005
Barth syndrome (BTHS) is an X-linked recessive disorder that is biochemically characterized by low cellular levels of the mitochondrial phospholipid cardiolipin (CL).
Fredoen Valianpour, Voula Mitsakos, Dimitri Schlemmer, Jeffrey A. Towbin, Juliet M. Taylor, Paul G. Ekert, David R. Thorburn, Arnold Munnich, Ronald J.A. Wanders, Peter G. Barth, Frédéric M. Vaz   +10 more
doaj   +1 more source

Barth Syndrome: Exploring Cardiac Metabolism With Induced Pluripotent Stem Cell-Derived Cardiomyocytes [PDF]

, 2019
© 2019 by the authors. Licensee MDPI, Basel, Switzerland. Barth syndrome (BTHS) is an X-linked recessive multisystem disorder caused by mutations in the TAZ gene (TAZ, G 4.5, OMIM 300394) that encodes for the acyltransferase tafazzin.
Deleonibus, Gina A., Fatica, Erica M., House, Alisha, Kodger, Jillian V., Levi, Liraz, Pearce, Ryan W., Sandlers, Yana, Shah, Rohan R.   +7 more
core   +2 more sources

Trends in Research on Hypertrophic Cardiomyopathy and Mitochondria From 2003 to 2023: A Bibliometric Analysis

Health Science Reports, Volume 8, Issue 3, March 2025.
ABSTRACT Background Mitochondria have emerged as a significant and promising area of research in hypertrophic cardiomyopathy (HCM). However, there is a notable scarcity of bibliometric studies in this field. Our aim is to conduct a bibliometric analysis of mitochondrial research in HCM, delineating research hotspots and trends to aid in understanding ...
Lulu Yang, Heng Zhang, Zhiyang Zhu, Jianming Wang, Xiaojuan Liu, Lijie Lu, Jinliang Huang, Miaoran Wang, Zhengchuan Zhu   +8 more
wiley   +1 more source