Results 61 to 70 of about 1,210,543 (141)

Cell-Penetrating Peptide Enhances Tafazzin Gene Therapy in Mouse Model of Barth Syndrome. [PDF]

Int J Mol Sci
Barth Syndrome (BTHS) is an early onset, lethal X-linked disorder caused by a mutation in tafazzin (TAFAZZIN), a mitochondrial acyltransferase that remodels monolysocardiolipin (MLCL) to mature cardiolipin (CL) and is essential for normal mitochondrial ...
Raghav R, Awata J, Martin GL, Strathdee D, Blanton RM, Chin MT.   +5 more
europepmc   +2 more sources

Barth syndrome : a mutational analysis of the BTHS gene [PDF]

, 1999
Barth syndrome is an X-linked recessive disorder affecting only males. The clinical features of Barth syndrome include cardiomyopathy, endocardial fibroelastosis, neutropenia, hypocholesterolemia, growth retardation, short stature and cyclic acidurias ...
Elliot, Ann M.
core  

Cardiolipin in Barth Syndrome [PDF]

, 2017
Barth Syndrome (BTHS) is a rare genetic disorder caused by mutations in the gene that encodes tafazzin, a protein whose sole function is to remodel the mitochondrial phospholipid cardiolipin (CL). Despite comprising a small proportion of the body’s total
Ikon, Nikita
core   +1 more source

Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data

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, Bhargava Chinni, Hilary Vernon, W. Reid Thompson, Brittany Hornby, Shelby Kutty, Cedric Manlhiot   +6 more
doaj   +1 more source

Re-Expression of Tafazzin Isoforms in TAZ-Deficient C6 Glioma Cells Restores Cardiolipin Composition but Not Proliferation Rate and Alterations in Gene Expression

Frontiers in Genetics, 2022
Tafazzin—an acyltransferase—is involved in cardiolipin (CL) remodeling. CL is associated with mitochondrial function, structure and more recently with cell proliferation. Various tafazzin isoforms exist in humans.
Gayatri Jagirdar, Matthias Elsner, Christian Scharf, Stefan Simm, Katrin Borucki, Daniela Peter, Michael Lalk, Karen Methling, Michael Linnebacher, Mathias Krohn, Carmen Wolke, Uwe Lendeckel   +11 more
doaj   +1 more source

Peak oxygen uptake (VO2peak) across childhood, adolescence and young adulthood in Barth syndrome: Data from cross-sectional and longitudinal studies. [PDF]

PLoS ONE, 2018
Barth syndrome (BTHS) is an ultra-rare, X-linked recessive disorder characterized by cardio-skeletal myopathy, exercise intolerance, and growth delay. Oxygen uptake during peak exercise (VO2peak) has been shown to be severely limited in individuals with ...
William Todd Cade, Kathryn L Bohnert, Dominic N Reeds, Linda R Peterson, Adam J Bittel, Adil Bashir, Barry J Byrne, Carolyn L Taylor   +7 more
doaj   +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

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.
Kevin Whited, Steven M. Claypool, Srijumnong, Santi, Koehler, Carla M, Whited, Kevin, Han, Xianlin, Carla M. Koehler, Claypool, Steven M, Santi Srijumnong, Xianlin Han   +9 more
core   +1 more source

Barth syndrome cardiomyopathy

, 2017
Barth syndrome (BTHS) is an inherited form of cardiomyopathy, caused by a mutation within the gene encoding the mitochondrial transacylase tafazzin. Tafazzin is involved in the biosynthesis of the unique phospholipid cardiolipin (CL), which is almost ...
Maack, Christoph, Dudek, Jan
core   +1 more source

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies

, 2014
Study of monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial roles in cardiac development and disease. Here, we combined patient-derived and genetically engineered induced pluripotent stem cells (iPSCs) with tissue engineering ...
Amy E Roberts, Qing Ma, He, Aibin, Laflamme, Michael A, Hongyan Yuan, Frédéric M Vaz, Kelley, Richard I., Wim Kulik, Pu, William T, Jian Ding, Megan L McCain, Lior Zangi, Donghui Zhang, Vaz, Frédéric M, Zhang, Donghui, Wang, Jiwu, Wanders, Ronald J A, Gang Wang, Da-Zhi Wang, Chien, Kenneth R., Dawei Jiang, Murry, Charles E., Chien, Kenneth R, Vaz, Frédéric M., Wanders, Ronald J. A., Kevin Kit Parker, Charles E Murry, Kai Li, Ashutosh Agarwal, Ding, Jian, McCain, Megan L, Chen, Jinghai, Parker, Kevin Kit, Roberts, Amy E, Jiang, Dawei, Church, George M., Zangi, Lior, Francesco Silvio Pasqualini, Pu, William T., Yang, Luhan, Murry, Charles E, Li, Kai, Michael A Laflamme, Kenneth R Chien, William T Pu, Kulik, Wim, Wang, Gang, Roberts, Amy E., Wang, Da-Zhi, Ronald J A Wanders, Yuan, Hongyan, Aibin He, Jinghai Chen, Judith Geva, Church, George M, Luhan Yang, Richard I Kelley, Jiwu Wang, Pasqualini, Francesco Silvio, George M Church, McCain, Megan L., Geva, Judith, Ma, Qing, Laflamme, Michael A., Kelley, Richard I, Agarwal, Ashutosh   +65 more
core   +2 more sources