Results 61 to 70 of about 7,513 (190)

Redox Regulation and Oxidative Stress in Health and Disease: Mechanisms and Therapeutic Targeting

MedComm – Future Medicine, Volume 5, Issue 2, June 2026.
Reactive species serve crucial roles which are tightly regulated in both physiological as well as disease states. At physiological levels, these species are integral to redox signaling, while uncontrolled redox promotes disease pathology. This review examines the dysregulation of these processes.
Mohammad Hossein Azadi, Azadeh Niknejad, Elaheh Amini   +2 more
wiley   +1 more source

Generation of a pluripotent embryonic stem cell TAFAZZIN hESC model (WAe009-A-3H) of Barth syndrome

Stem Cell Research
Barth syndrome is among the most common mitochondrial diseases presenting with cardiomyopathy. We have generated a human embryonic stem cell (hESC) model of Barth syndrome (TAFAZZINΔ3 C15) in a female background (H9 hESC) using CRISPR/Cas9 gene editing ...
Yau Chung Low, Cameron L. McKnight, David A. Elliott, David R. Thorburn, Ann E. Frazier   +4 more
doaj   +1 more source

X Chromosome Inactivation in Carriers of Barth Syndrome [PDF]

The American Journal of Human Genetics, 1998
Barth syndrome (BTHS) is a rare X-linked recessive disorder characterized by cardiac and skeletal myopathy, neutropenia, and short stature. A gene for BTHS, G4.5, was recently cloned and encodes several novel proteins, named "tafazzins." Unique mutations have been found.
Orstavik, K.H., Orstavik, R.E., Naumova, A.K., D'Adamo, P., Gedeon, A., Bolhuis, P.A., Barth, P.G., Toniolo, D.   +7 more
openaire   +3 more sources

Therapeutic Peptide SS‐31 Modulates Membrane Binding and Aggregation of α‐Synuclein and Restores Impaired Mitochondrial Function

Chemical Biology &Drug Design, Volume 107, Issue 6, June 2026.
SS‐31 (Elamipretide) inhibits α‐synuclein aggregation on the membranes and emerges as a promising therapeutic candidate against mitochondrial dysfunction in Parkinson's disease. ABSTRACT Membrane binding and aggregation properties of α‐synuclein are closely associated with Parkinson's disease and a class of related syndromes named as synucleinopathy ...
Ewelina Stefaniak, Beiyuan Cui, Xucheng Yan, Kexin Sun, Xiangyu Teng, Liming Ying   +5 more
wiley   +1 more source

From Pharmacodynamic Biomarker to Evaluating Treatment Response: Biomarkers in Primary Mitochondrial Diseases

Clinical and Translational Science, Volume 19, Issue 6, June 2026.
ABSTRACT Primary mitochondrial diseases (PMDs) result from genetic variants in nuclear DNA and mitochondrial DNA which commonly lead to aberrant oxidative phosphorylation. The clinical complexity, often attributed to the underlying genetics, includes several distinct syndromes (e.g., Barth syndrome; Pearson syndrome; Mitochondrial encephalomyopathy ...
Sydney Stern, Karryn Crisamore, John Patton, Robert Schuck, Michael Pacanowski   +4 more
wiley   +1 more source

Early adversity and the comorbidity between metabolic disease and psychopathology

The Journal of Physiology, Volume 604, Issue 11, Page 4338-4377, 1 June 2026.
Abstract figure legend Hierarchical diagram representing the interplay between the genetic background and early life adversities and its effect on multiple physiological processes that ultimately impact on the risk for the comorbdity between psychopathology and cardiometabolic disorders.
Ameyalli Gómez‐Ilescas, Patricia Pelufo Silveira   +1 more
wiley   +1 more source

Phospholipid Requirement for Mitochondrial Calcium Channel and Its Implications in Barth Syndrome [PDF]

, 2022
Biochemical interactions between macromolecules form the basis of life. Among different macromolecular interactions present in living systems, we still lag in our understanding of how lipids influence the structure and function of proteins in biological ...
Ghosh, Sagnika
core  

Genotype–Phenotype Discordance in Cardiomyopathies: Pathophysiology, Clinical Expression, and Therapeutic Considerations

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background Cardiomyopathies encompass a spectrum of myocardial disorders often attributed to underlying genetic mutations. However, genotype–phenotype discordance where the genetic profile does not align with the expected clinical presentation poses significant diagnostic, prognostic, and therapeutic challenges.
Abubakar Nazir, Atif Hussain Sarwar, Rameen Nazar, Sarim Hassan Shahab, Sumera Manan, Hafsa Rafique, Ahsan Talal Khan, Abdalhakim Shubietah, Syed Rafay Hussain Zaidi, Behram Khan   +9 more
wiley   +1 more source

Improving Mitochondrial Metabolism Restores The Exercise Capacity Of A Drosophila Model Of Barth Syndrome

, 2021
Cardiolipin (CL) is a phospholipid required for proper mitochondrial function. Tafazzin remodels CL to create highly unsaturated fatty acid chains. However, when tafazzin is mutated, CL remodeling is impeded, leading to mitochondrial dysfunction and the ...
Damschroder, Deena Jan
core  

Human trifunctional protein alpha links cardiolipin remodeling to beta-oxidation. [PDF]

PLoS ONE, 2012
Cardiolipin (CL) is a mitochondrial membrane phospholipid which plays a key role in apoptosis and supports mitochondrial respiratory chain complexes involved in the generation of ATP.
William A Taylor, Edgard M Mejia, Ryan W Mitchell, Patrick C Choy, Genevieve C Sparagna, Grant M Hatch   +5 more
doaj   +1 more source