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 +29 more
wiley +1 more source
Genetics of human and canine dilated cardiomyopathy [PDF]
, 2015 Cardiovascular disease is a leading cause of death in both humans and dogs. Dilated cardiomyopathy (DCM) accounts for a large number of these cases, reported to be the third most common form of cardiac disease in humans and the second most common in dogs.
Cobb, Malcolm +5 more
core +5 more sources
Mitochondria‐Nuclear Crosstalk: Orchestrating mtDNA Maintenance
Environmental and Molecular Mutagenesis, Volume 66, Issue 5, Page 222-242, June 2025.ABSTRACT The mitochondria (mt) and nucleus engage in a dynamic bidirectional communication to maintain cellular homeostasis, regulating energy production, stress response, and cell fate. Anterograde signaling directs mt function, while retrograde signaling conveys metabolic and stress‐related changes from mt to the nucleus. Central to this crosstalk is
Ghazal Darfarin, Janice Pluth
wiley +1 more source
Mutational Analysis of the QRRQ Motif in the Yeast Hig1 Type 2 Protein Rcf1 Reveals a Regulatory Role for the Cytochrome \u3cem\u3ec\u3c/em\u3e Oxidase Complex [PDF]
, 2017 The yeast Rcf1 protein is a member of the conserved family of proteins termed the hypoxia-induced gene (domain) 1 (Hig1 or HIGD1) family. Rcf1 interacts with components of the mitochondrial oxidative phosphorylation system, in particular the cytochrome ...
Garlich, Joshua +3 more
core +1 more source
Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy [PDF]
, 2015 published_or_final_versio
Asselbergs, FW +23 more
core +1 more source
Tafazzin (TAZ) promotes the tumorigenicity of cervical cancer cells and inhibits apoptosis
PLOS ONE, 2017 Tafazzin (TAZ) is often aberrantly expressed in some cancers, including rectal cancer and thyroid neoplasms. However, the function of TAZ in cervical cancer cells remains unknown. This study aims to explore the expression and function of TAZ in cervical cancer cells.
Mei Chen, Yuan Zhang, Peng-Sheng Zheng
openaire +4 more sources
Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease [PDF]
, 2017 Oxidative stress arises when cellular antioxidant defences become overwhelmed by a surplus generation of reactive oxygen species (ROS). Once this occurs, many cellular biomolecules such as DNA, lipids, and proteins become susceptible to free radical ...
Al Shahrani, M +3 more
core +2 more sources
Molecular genetics of cardiomyopathy: changing times, shifting paradigms [PDF]
, 2003 The original publication is available at http://www.cvja.co.za/Includes bibliographyCongestive heart failure is a major problem in developed and developing countries alike.
Brink, Paul A. +3 more
core
Molecular aspects of WNT/Frizzled signalling in brain angiogenesis [PDF]
, 2017 The family of WNT lipoglycoproteins consists of 19 secreted proteins that are important for multiple cellular processes including cell proliferation, migration and fate.
Hot, Belma
core +1 more source
Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome
EMBO Molecular Medicine, 2015 Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin.
Jan Dudek +13 more
doaj +1 more source