Results 71 to 80 of about 663 (143)

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

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

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

Beneficial effects of SS-31 peptide on cardiac mitochondrial dysfunction in tafazzin knockdown mice

Scientific Reports, 2022
Barth Syndrome (BTHS), a genetic disease associated with early-onset cardioskeletal myopathy, is caused by loss-of-function mutations of the TAFAZZIN gene, which is responsible for remodeling the mitochondrial phospholipid cardiolipin (CL).
Silvia Russo, Domenico De Rasmo, Anna Signorile, Angela Corcelli, Simona Lobasso   +4 more
doaj   +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

Deletion of Tafazzin in Cardiomyocytes Results in Dilated Cardiomyopathy [PDF]

, 2020
Cardiolipin, the signature phospholipid of mitochondria, is crucial for mitochondrial function and architecture in the heart. Defects in cardiolipin remodeling processes and metabolism lead to cardiomyopathy, as seen in patients with Barth Syndrome (BTHS)
Zhu, Mason
core   +1 more source

Upregulation of the AMPK-FOXO1-PDK4 pathway is a primary mechanism of pyruvate dehydrogenase activity reduction in tafazzin-deficient cells

Scientific Reports
Barth syndrome (BTHS) is a rare disorder caused by mutations in the TAFAZZIN gene. Previous studies from both patients and model systems have established metabolic dysregulation as a core component of BTHS pathology.
Zhuqing Liang, Tyler Ralph-Epps, Michael W. Schmidtke, Pablo Lazcano, Simone W. Denis, Mária Balážová, Nevton Teixeira da Rosa, Mohamed Chakkour, Sanaa Hazime, Mindong Ren, Michael Schlame, Riekelt H. Houtkooper, Miriam L. Greenberg   +12 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

SS-31 treatment ameliorates cardiac mitochondrial morphology and defective mitophagy in a murine model of Barth syndrome

Scientific Reports
Barth syndrome (BTHS) is a lethal rare genetic disorder, which results in cardiac dysfunction, severe skeletal muscle weakness, immune issues and growth delay.
Silvia Russo, Domenico De Rasmo, Roberta Rossi, Anna Signorile, Simona Lobasso   +4 more
doaj   +1 more source

BMAL1 Drives Cisplatin Resistance in Non‐Small Cell Lung Cancer Via Lactate‐MRP1 Signaling Pathway

Thoracic Cancer, Volume 17, Issue 8, April 2026.
The drug cisplatin induces BMAL1 expression through AKT signaling in response to cisplatin‐induced oxidative stress. BMAL1 activates HIF‐1α‐mediated metabolic reprogramming and lactate production, which in turn activates the TAZ/c‐Jun/Snail complex to upregulate drug efflux pump MRP1, initiating and sustaining chemoresistance. ABSTRACT Lung cancer, the
Zixin Shi, Ziniu Qin, Chuantao Chen, Xiaolin Yang, Yunhan Hu, Xiaohui Meng, Yuxiang Cao, Xiang Tao, Zhijian Zhang, Tiancheng Xie, Huijun Wei, Zhihao Wu   +11 more
wiley   +1 more source