Results 61 to 70 of about 808 (154)

Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins [PDF]

, 2006
None of the 28 identified point mutations in tafazzin (Taz1p), which is the mutant gene product associated with Barth syndrome (BTHS), has a biochemical explanation.
Claypool, Steven M., Koehler, Carla M., McCaffery, J. Michael   +2 more
core   +2 more sources

Barth syndrome mutations that cause tafazzin complex lability [PDF]

, 2011
Complexes containing tafazzin, which remodels newly synthesized cardiolipin, are destabilized by mutations associated with Barth ...
Barth, Barth, Beranek, Bestwick, Bione, Brandner, Calvo, Calvo, Carla M. Koehler, Claypool, Claypool, Claypool, Daum, DiMauro, Djavadi-Ohaniance, Dunn, Dunn, Ernster, Gebert, Glick, Gonzalvez, Haas, Han, Han, Ho, Horst, Houtkooper, Houtkooper, Hwang, Kevin Whited, Koehler, Kulik, Leonhard, Leonhard, Luft, Luft, Ma, Maccecchini, McKenzie, Metzger, Ohashi, Pagliarini, Panneels, Poyton, Rabl, Riezman, Santi Srijumnong, Scherer, Schlame, Schlame, Schlame, Sickmann, Steven M. Claypool, Tamura, Tatsuta, Tatsuta, Thorburn, Thorburn, Valianpour, Vaz, Wach, Xianlin Han, Xu, Yang   +63 more
core   +3 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

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

Metabolic switch from fatty acid oxidation to glycolysis in knock‐in mouse model of Barth syndrome

EMBO Molecular Medicine, 2023
Mitochondria are central for cellular metabolism and energy supply. Barth syndrome (BTHS) is a severe disorder, due to dysfunction of the mitochondrial cardiolipin acyl transferase tafazzin.
Arpita Chowdhury, Angela Boshnakovska, Abhishek Aich, Aditi Methi, Ana Maria Vergel Leon, Ivan Silbern, Christian Lüchtenborg, Lukas Cyganek, Jan Prochazka, Radislav Sedlacek, Jiri Lindovsky, Dominic Wachs, Zuzana Nichtova, Dagmar Zudova, Gizela Koubkova, André Fischer, Henning Urlaub, Britta Brügger, Dörthe M Katschinski, Jan Dudek, Peter Rehling   +20 more
doaj   +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

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

Abstracts of the 13th International Conference on Cachexia, Sarcopenia and Muscle Wasting, 11‐13 December 2020

, 2021
JCSM Rapid Communications, Volume 4, Issue 2, Page 260-326, July/December 2021.
wiley   +1 more source