Results 61 to 70 of about 809 (138)
Barth syndrome mutations that cause tafazzin complex lability [PDF]
, 2011 Deficits in mitochondrial function result in many human diseases. The X-linked disease Barth syndrome (BTHS) is caused by mutations in the tafazzin gene TAZ1.
Claypool, Steven M +4 more
core +3 more sources
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 +5 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2023 Background Barth syndrome (BTHS) is a rare genetic disease that is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities and often leads to death in childhood.
Jef Van den Eynde +6 more
doaj +1 more source
Dual Mechanisms Contributing To Pyruvate Dehydrogenase Activity Deficiency In A Barth Syndrome Cell Model [PDF]
, 2023 Barth syndrome (BTHS) is a rare genetic disease that results from mutations in the TAFAZZIN gene, which encodes the cardiolipin (CL) remodeling enzyme tafazzin (Taz).
Liang, Zhuqing
core +1 more source
Metabolic switch from fatty acid oxidation to glycolysis in knock‐in mouse model of Barth syndrome
EMBO Molecular Medicine, 2023 Mitochondria are central for cellular metabolism and energy supply. Barth syndrome (BTHS) is a severe disorder, due to dysfunction of the mitochondrial cardiolipin acyl transferase tafazzin.
Arpita Chowdhury +20 more
doaj +1 more source
Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 2, April 2026.ABSTRACT Background Barth syndrome (BTHS) is a rare X‐linked mitochondrial disorder caused by mutations in the TAFAZZIN gene, which disrupts cardiolipin (CL) remodelling and mitochondrial function. While cardiac manifestations of BTHS are well characterized in male patients, the mechanisms underlying skeletal muscle weakness and fatigability are poorly
Catalina Matias +7 more
wiley +1 more source
Barth Syndrome: Exploring Cardiac Metabolism With Induced Pluripotent Stem Cell-Derived Cardiomyocytes [PDF]
, 2019 © 2019 by the authors. Licensee MDPI, Basel, Switzerland. Barth syndrome (BTHS) is an X-linked recessive multisystem disorder caused by mutations in the TAZ gene (TAZ, G 4.5, OMIM 300394) that encodes for the acyltransferase tafazzin.
Deleonibus, Gina A. +7 more
core +2 more sources
Therapies for Mitochondrial Disease: Past, Present, and Future
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT Mitochondrial disease is a diverse group of clinically and genetically complex disorders caused by pathogenic variants in nuclear or mitochondrial DNA‐encoded genes that disrupt mitochondrial energy production or other important mitochondrial pathways. Mitochondrial disease can present with a wide spectrum of clinical features and can often be
Megan Ball +5 more
wiley +1 more source
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis
Journal of Lipid Research, 2005 Barth syndrome (BTHS) is an X-linked recessive disorder that is biochemically characterized by low cellular levels of the mitochondrial phospholipid cardiolipin (CL).
Fredoen Valianpour +10 more
doaj +1 more source
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 +8 more
wiley +1 more source