Results 71 to 80 of about 817 (152)
, 2021 JCSM Rapid Communications, Volume 4, Issue 2, Page 260-326, July/December 2021.
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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
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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 +9 more
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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 +9 more
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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 +5 more
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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 +6 more
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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 +5 more
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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 +28 more
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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.
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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 +10 more
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