Results 51 to 60 of about 669 (138)

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

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

What can ATP content tell us about Barth syndrome muscle phenotypes? [PDF]

J Transl Genet Genom
Adenosine triphosphate (ATP) is the energy currency within all living cells and is involved in many vital biochemical reactions, including cell viability, metabolic status, cell death, intracellular signaling, DNA and RNA synthesis, purinergic signaling,
Brault JJ, Conway SJ.
europepmc   +2 more sources

Mitochondrial Homeostasis in Pancreatic β Cell Function: Mechanisms and Therapeutic Targets for Diabetes

Journal of Diabetes, Volume 18, Issue 5, May 2026.
This review highlights mitochondrial dysfunction as a central driver of pancreatic β cell failure in diabetes, caused by disrupted mitochondrial quality control (MQC), oxidative stress, and impaired organelle communication. Emerging therapies, such as DRAK2 inhibitors and metabolic reprogramming agents, show promise in restoring β cell function by ...
Ruihan Li, Bingqian Zhang, Yuxin Zhang, Yang Yang, Yuting Lu, Jingya Li   +5 more
wiley   +1 more source

Barth syndrome cardiomyopathy

, 2017
Barth syndrome (BTHS) is an inherited form of cardiomyopathy, caused by a mutation within the gene encoding the mitochondrial transacylase tafazzin. Tafazzin is involved in the biosynthesis of the unique phospholipid cardiolipin (CL), which is almost ...
Maack, Christoph, Dudek, Jan
core   +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.
Lu, Ya-Wen, Galbraith, Laura, Van Kampen, Antoine, Gottlieb, Eyal, Luyf, Angela, Herndon, Jenny D., Claypool, Steven M, Vervaart, Martin, Claypool, Steven M., Herndon, Jenny D, Lu, Ya-Lin, McCaffery, J.Michael, Koehler, Carla M, McCaffery, J. Michael, Vaz, Frederic M, McCaffery, J Michael, Vaz, Frederic M., Koehler, Carla M., Pras-Raves, Mia, Herndon, Jenny   +19 more
core   +1 more source

Phospholipid abnormalities in children with Barth syndrome

, 2003
ObjectivesWe sought to identify characteristic lipid abnormalities in patients with Barth syndrome (BTHS) and to correlate the lipid profile to phenotype and genotype.BackgroundBarth syndrome typically includes cardiomyopathy, skeletal myopathy ...
Feigenbaum, Annette, Wanders, Ronald J. A., Schieble, Thomas, Schlame, Michael, Kelley, Richard I., Blanck, Thomas J.J, Heerdt, Paul M., Kelley, Richard I, Towbin, Jeffrey A., Blanck, Thomas J. J., Heerdt, Paul M, Towbin, Jeffrey A, Wanders, Ronald J.A, DiMauro, Salvatore   +13 more
core   +1 more source

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