Results 61 to 70 of about 1,210,144 (112)

Tafazzin regulates neutrophil maturation and inflammatory response

EMBO Reports
Barth syndrome (BTHS) is a rare genetic disease caused by mutations in the TAFAZZIN gene. It is characterized by neutropenia, cardiomyopathy and skeletal myopathy.
Przemysław Zakrzewski, Christopher M Rice, Kathryn Fleming, Drinalda Cela, Sarah J Groves, Fernando M Ponce-Garcia, Willem Gibbs, Kiran Roberts, Tobias Pike, Douglas Strathdee, Eve Anderson, Angela H Nobbs, Ashley M Toye, Colin Steward, Borko Amulic   +14 more
doaj   +1 more source

Mitochondria‐Homing Drug Mitochonic Acid 5 Improves Barth Syndrome Myopathy in a Human‐Induced Pluripotent Stem Cell Model and Barth Syndrome Drosophila Model

The FASEB Journal, Volume 39, Issue 12, 30 June 2025.
Barth syndrome (BTHS) is a rare disease caused by mutations in the tafazzin gene that affects the heart and muscles, but till date, no clinically effective drugs. Using Barth syndrome myopathy in human‐ iPS‐derived disease cells and Drosophila melanogaster model, a new mitochondria‐homing drug MA‐5, improves BTHS dysfunction and may serve as a new ...
Yoshiyasu Tongu, Tomoko Kasahara, Tetsuro Matsuhashi, Yoshitsugu Oikawa, Ryota Akimoto, Yuhan Luo, Sayaka Sekine, Momoka Suzuki, Hitomi Kashiwagi, Shinichiro Kanno, Yoshikazu Tanaka, Kyohei Sato, Yusuke Okubo, Akihiko Muto, Hidetaka Tokuno, Chitose Suzuki, Chiharu Kawabe, Takamasa Ishikawa, Shun Watanabe, Koichi Kikuchi, Shun Itai, Takeya Sato, Takehiro Suzuki, Kazuhiro Igarashi, Shinji Fukuda, Tomoyoshi Soga, Kei Murayama, Erina Kuranaga, Takafumi Toyohara, Takaaki Abe   +29 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

Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue

EMBO Molecular Medicine
Barth syndrome (BTHS) is a rare X-linked recessively inherited disorder caused by variants in the TAFAZZIN gene, leading to impaired conversion of monolysocardiolipin (MLCL) into mature cardiolipin (CL).
Bauke V Schomakers, Adriana S Passadouro, Maria M Trętowicz, Pelle J Simpson, Yorrick R J Jaspers, Michel van Weeghel, Iman Man Hu, Cathelijne M E Lamboo, Denise Cloutier, Barry J Byrne, Jan Bert van Klinken, Paul M L Janssen, Sander R Piersma, Connie R Jimenez, Frédéric M Vaz, Gajja S Salomons, Jolanda van der Velden, Riekelt H Houtkooper, Signe Mosegaard   +18 more
doaj   +1 more source

Case Report: A Chinese child with Barth syndrome caused by a novel TAFAZZIN mutation

Frontiers in Cardiovascular Medicine
Barth syndrome (BTHS) is a rare X-linked recessive genetic disorder characterized by a broad spectrum of clinical features including cardiomyopathy, skeletal myopathy, neutropenia, growth delay, and 3-methylglutaconic aciduria.
Mingxuan Che, Mingxuan Che, Fuhai Li, Yaning Jia, Yaning Jia, Qingzheng Liu, Jian Hu, Jidong Zhang, Shiguo Liu, Shiguo Liu   +9 more
doaj   +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

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

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