Results 71 to 80 of about 1,210,543 (141)

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

A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome

, 2009
Barth Syndrome (BTHS) is a rare X-linked recessive inborn error of metabolism, which is characterized by dilated cardiomyopathy, neutropenia, skeletal myopathy and short stature.
Bachou, Theodora, Kattamis, Antonis, Vazeou, Andriani, Giannakopoulos, Aris, Trapali, Christina   +4 more
core   +1 more source

Barth Syndrome:From mitochondrial dysfunctions associated with aberrant production of reactive oxygen species to pluripotent stem cell studies

Frontiers in Genetics, 2016
Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (often dilated), skeletal muscle weakness, neutropenia, growth retardation and 3 ...
Ana eSaric, Ana eSaric, Karine eAndreau, Anne-Sophie eArmand, Ian Max Möller, Patrice X. PETIT   +5 more
doaj   +1 more source

Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome

Orphanet Journal of Rare Diseases, 2022
Background Natural history studies are increasingly recognized as having an important role in drug development for rare diseases. A phase 3, observational, retrospective, and non-interventional study was designed to establish a natural history control ...
Brittany Hornby, William Reid Thompson, Mohammed Almuqbil, Ryan Manuel, Anthony Abbruscato, Jim Carr, Hilary J. Vernon   +6 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

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

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

Balkan Journal of Medical Genetics, 2016
Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of ...
Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V   +5 more
doaj   +1 more source

Cardiomyopathy: pathogenesis and therapeutic interventions

MedComm, Volume 5, Issue 11, November 2024.
Cardiomyopathy is a group of diseases characterized by structural and functional damage to the myocardium. Many specific gene mutations, environmental factors, and metabolic disorders may cause cardiomyopathy. Traditional therapeutic includes drug and surgery. With the growing comprehension of the molecular mechanisms underlying cardiomyopathy.
Shitong Huang, Jiaxin Li, Qiuying Li, Qiuyu Wang, Xianwu Zhou, Jimei Chen, Xuanhui Chen, Abdelouahab Bellou, Jian Zhuang, Liming Lei   +9 more
wiley   +1 more source

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype [PDF]

, 2014
Barth syndrome (BTHS) is an X-linked disorder characterised by cardiac and skeletal myopathy, growth delay, neutropenia and 3-methylglutaconic aciduria (3-MGCA).
Qureshi, Shakeel A., Williams, Maggie, Nicol Clayton, Clayton, Nicol, Graham J. Shortland, Lucy Jones, Tsai-Goodman, Beverley, Beverley Tsai‐Goodman, Shakeel A. Qureshi, Bowron, Ann, Ann Bowron, Simon J. R. Heales, Julie Honeychurch, Maggie Williams, Jones, Lucy, Beverley Tsai-Goodman, Heales, Simon J R, Steward, Colin G., Colin G. Steward, Honeychurch, Julie, Shortland, Graham J.   +20 more
core   +1 more source

Decreasing cytosolic translation is beneficial to yeast and human Tafazzin-deficient cells

Microbial Cell, 2018
Cardiolipin (CL) optimizes diverse mitochondrial processes, including oxidative phosphorylation (OXPHOS). To function properly, CL needs to be unsaturated, which requires the acyltransferase Tafazzin (TAZ).
Maxence de Taffin de Tilques, Jean-Paul Lasserre, François Godard, Elodie Sardin, Marine Bouhier, Marina Le Guedard, Roza Kucharczyk, Patrice X. Petit, Eric Testet, Jean-Paul di Rago, Déborah Tribouillard-Tanvier   +10 more
doaj   +1 more source