Results 71 to 80 of about 2,741 (176)

Survival and Clinical Progression in Barth Syndrome: Insights From the Barth Syndrome Foundation's Database of 502 Affected Individuals

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Barth syndrome (BTHS; OMIM 302060) is an ultra‐rare, life‐limiting genetic disorder characterized by cardiomyopathy, skeletal muscle myopathy, neutropenia, gastrointestinal issues, and fatigue. Formal analyses of survival and clinical progression remain limited.
Kexin Fu, Yonglin Huang, Valerie Bowen, Katherine McCurdy, Reina B. Tan, Colin K. L. Phoon, Lindsay Marjoram, Alex Dahlen   +7 more
wiley   +1 more source

Stimulating myocardial pyruvate dehydrogenase activity fails to alleviate cardiac abnormalities in a mouse model of human Barth syndrome

Frontiers in Cardiovascular Medicine, 2022
Barth syndrome (BTHS) is a rare genetic disorder due to mutations in the TAFAZZIN gene, leading to impaired maturation of cardiolipin and thereby adversely affecting mitochondrial function and energy metabolism, often resulting in cardiomyopathy.
Amanda A. Greenwell, Amanda A. Greenwell, Amanda A. Greenwell, Seyed Amirhossein Tabatabaei Dakhili, Seyed Amirhossein Tabatabaei Dakhili, Seyed Amirhossein Tabatabaei Dakhili, Keshav Gopal, Keshav Gopal, Keshav Gopal, Christina T. Saed, Christina T. Saed, Christina T. Saed, Jordan S. F. Chan, Jordan S. F. Chan, Jordan S. F. Chan, Nick Kazungu Mugabo, Pavel Zhabyeyev, Pavel Zhabyeyev, Pavel Zhabyeyev, Farah Eaton, Farah Eaton, Farah Eaton, Jennifer Kruger, Gavin Y. Oudit, Gavin Y. Oudit, Gavin Y. Oudit, John R. Ussher, John R. Ussher, John R. Ussher   +28 more
doaj   +1 more source

New C-Terminal Conserved Regions of Tafazzin, a Catalyst of Cardiolipin Remodeling [PDF]

Oxidative Medicine and Cellular Longevity, 2019
Cardiolipin interacts with many proteins of the mitochondrial inner membrane and, together with cytochrome C and creatine kinase, activates them. It can be considered as an integrating factor for components of the mitochondrial respiratory chain, which provides for an efficient transfer of electrons and protons.
Gregory A. Shilovsky, Oleg A. Zverkov, Alexandr V. Seliverstov, Vasily V. Ashapkin, Tatyana S. Putyatina, Lev I. Rubanov, Vassily A. Lyubetsky   +6 more
openaire   +2 more sources

TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome [PDF]

, 2020
Tafazzin, which is encoded by the TAZ gene, catalyzes transacylation to form mature cardiolipin and shows preference for the transfer of a linoleic acid (LA) group from phosphatidylcholine (PC) to monolysocardiolipin (MLCL) with influence from ...
Ping, Peipei, Jaewoo Kim, Vladimir Guevara-Gonzalez, Peipei Ping, Anders O. Garlid, Garlid, Anders O, Guevara-Gonzalez, Vladimir, Kim, Jaewoo, Hirsh Bhatt, Calvin T. Schaffer, Schaffer, Calvin T, Bhatt, Hirsh   +11 more
core   +1 more source

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

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, Volume 183, Issue 9, Page 1779-1813, May 2026.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Role of Tafazzin and its isoforms on cardiolipin composition, cellular proliferation and gene expression [PDF]

, 2023
Tafazzin is an acyltransferase with key functions in remodeling of the mitochondrial phospholipid cardiolipin (CL) by exchanging single fatty acids species in CL.
Jagirdar, Gayatri
core   +1 more source

Matrifibrocytes Redefine Cardiac Fibrosis: From Terminal Differentiation to Translational Modulation

Journal of Cellular and Molecular Medicine, Volume 30, Issue 10, May 2026.
ABSTRACT Cardiac fibrosis is increasingly recognized as a dynamic program that resolves into a terminal fibroblast fate, the matrifibrocyte, rather than a persistent myofibroblast state. Lineage‐tracing and single‐cell studies reveal that matrifibrocytes arise from activated myofibroblasts during late scar maturation, lose α‐SMA and proliferative ...
Zhentao Zhang, Hua Zhu
wiley   +1 more source

Thematic Review Series: Glycerolipids. Cardiolipin synthesis for the assembly of bacterial and mitochondrial membranes*

Journal of Lipid Research, 2008
In this article, the formation of prokaryotic and eukaryotic cardiolipin is reviewed in light of its biological function. I begin with a detailed account of the structure of cardiolipin, its stereochemistry, and the resulting physical properties, and I ...
Michael Schlame
doaj   +1 more source

Reduction in mRNA Expression of the Neutrophil Chemoattract Factor CXCL1 in Pseudomonas aeruginosa Treated Barth Syndrome B Lymphoblasts

Biology, 2023
Barth Syndrome (BTHS) is a rare X-linked genetic disease caused by a mutation in the TAFAZZIN gene, which codes for the protein tafazzin involved in cardiolipin remodeling.
Hana M. Zegallai, Kangmin Duan, Grant M. Hatch   +2 more
doaj   +1 more source