Results 71 to 80 of about 808 (154)

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., Fatica, Erica M., House, Alisha, Kodger, Jillian V., Levi, Liraz, Pearce, Ryan W., Sandlers, Yana, Shah, Rohan R.   +7 more
core   +2 more sources

Cardiomyopathy: pathogenesis and therapeutic interventions

MedComm, Volume 5, Issue 11, November 2024.
Cardiomyopathy is a group of diseases characterized by structural and functional damage to the myocardium. Many specific gene mutations, environmental factors, and metabolic disorders may cause cardiomyopathy. Traditional therapeutic includes drug and surgery. With the growing comprehension of the molecular mechanisms underlying cardiomyopathy.
Shitong Huang, Jiaxin Li, Qiuying Li, Qiuyu Wang, Xianwu Zhou, Jimei Chen, Xuanhui Chen, Abdelouahab Bellou, Jian Zhuang, Liming Lei   +9 more
wiley   +1 more source

Neutropenia in Barth syndrome:characteristics, risks, and management [PDF]

, 2019
PURPOSE OF REVIEW: Barth syndrome (BTHS) is an X-linked disease characterized by defective remodeling of phospholipid side chains in mitochondrial membranes.
Bolyard, Audrey A., Bowen, Valerie M., Dale, David C., Damin, Michaela K., Groves, Sarah J., Mackey, Michael C., Maisenbacher, Melissa K., McCurdy, Katherine R., Newbury-Ecob, Ruth A., Ozsahin, Hulya, Steward, Colin G., Taylor, Carolyn T., Versluys, Birgitta   +12 more
core   +2 more sources

Advances in cardiac tissue engineering and heart‐on‐a‐chip

Journal of Biomedical Materials Research Part A, Volume 112, Issue 4, Page 492-511, April 2024.
Abstract Recent advances in both cardiac tissue engineering and hearts‐on‐a‐chip are grounded in new biomaterial development as well as the employment of innovative fabrication techniques that enable precise control of the mechanical, electrical, and structural properties of the cardiac tissues being modelled.
Jennifer Kieda, Amid Shakeri, Shira Landau, Erika Yan Wang, Yimu Zhao, Benjamin Fook Lai, Sargol Okhovatian, Ying Wang, Richard Jiang, Milica Radisic   +9 more
wiley   +1 more source

Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome

Orphanet Journal of Rare Diseases, 2022
Background Natural history studies are increasingly recognized as having an important role in drug development for rare diseases. A phase 3, observational, retrospective, and non-interventional study was designed to establish a natural history control ...
Brittany Hornby, William Reid Thompson, Mohammed Almuqbil, Ryan Manuel, Anthony Abbruscato, Jim Carr, Hilary J. Vernon   +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

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

Balkan Journal of Medical Genetics, 2016
Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of ...
Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V   +5 more
doaj   +1 more source

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

Decreasing cytosolic translation is beneficial to yeast and human Tafazzin-deficient cells

Microbial Cell, 2018
Cardiolipin (CL) optimizes diverse mitochondrial processes, including oxidative phosphorylation (OXPHOS). To function properly, CL needs to be unsaturated, which requires the acyltransferase Tafazzin (TAZ).
Maxence de Taffin de Tilques, Jean-Paul Lasserre, François Godard, Elodie Sardin, Marine Bouhier, Marina Le Guedard, Roza Kucharczyk, Patrice X. Petit, Eric Testet, Jean-Paul di Rago, Déborah Tribouillard-Tanvier   +10 more
doaj   +1 more source

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   +1 more source