Results 61 to 70 of about 669 (138)

Barth Syndrome:From mitochondrial dysfunctions associated with aberrant production of reactive oxygen species to pluripotent stem cell studies

Frontiers in Genetics, 2016
Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (often dilated), skeletal muscle weakness, neutropenia, growth retardation and 3 ...
Ana eSaric, Ana eSaric, Karine eAndreau, Anne-Sophie eArmand, Ian Max Möller, Patrice X. PETIT   +5 more
doaj   +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

Trends in Research on Hypertrophic Cardiomyopathy and Mitochondria From 2003 to 2023: A Bibliometric Analysis

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, Heng Zhang, Zhiyang Zhu, Jianming Wang, Xiaojuan Liu, Lijie Lu, Jinliang Huang, Miaoran Wang, Zhengchuan Zhu   +8 more
wiley   +1 more source

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  

Anomalous peroxidase activity of cytochrome c is the primary pathogenic target in Barth syndrome [PDF]

, 2023
Barth syndrome (BTHS) is a life-threatening genetic disorder with unknown pathogenicity caused by mutations in TAFAZZIN (TAZ) that affect remodeling of mitochondrial cardiolipin (CL).
Ramim, Abu, Niyatie, Ammanamanchi, Kiselyov, Kirill, Souryavong, Austin B, Greenberg, Miriam L, Schmidtke, Michael W, Damschroder, Deena, Tyurina, Yulia Y, Amoscato, Andrew A, Wessells, Robert, van der Wel, Patrick C A, Vieira Neto, Eduardo, Peterson, Jim, Bayir, Hülya, Lasorsa, Alessia, Tyurin, Vladimir A, Rampratap, Pushpa, Atkinson, Jeffrey, Lasorsa, Alessia; id_orcid, Samovich, Svetlana N, van der Wel, Patrick C A; id_orcid, Vockley, Jerry, Bahar, Ivet, Dar, Haider H, Mikulska-Ruminska, Karolina, Vladimirov, Georgy K, Kühn, Bernhard, Liang, Zhuqing, Lazcano, Pablo, Kagan, Valerian E, Artyukhova, Margarita A, Korkmaz, Aybike, Ji, Jiajia, Baker, Emma-Kate, Cole, Laura K, Kapralov, Alexander A, Hatch, Grant M   +36 more
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

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

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

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

Barth syndrome mutations that cause tafazzin complex lability

, 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   +2 more sources