Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome
EMBO Molecular Medicine, 2015 Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin.
Jan Dudek +13 more
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Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease [PDF]
, 2017 Oxidative stress arises when cellular antioxidant defences become overwhelmed by a surplus generation of reactive oxygen species (ROS). Once this occurs, many cellular biomolecules such as DNA, lipids, and proteins become susceptible to free radical ...
Al Shahrani, M +3 more
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Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome
Journal of Lipid Research, 2006 Barth Syndrome (BTHS) is an X-linked recessive disorder that results in abnormal metabolism of the mitochondrial phospholipid cardiolipin (CL). CLs are decreased and monolysocardiolipins (MLCLs), intermediates in CL metabolism, are increased in a variety
Michiel Adriaan van Werkhoven +3 more
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Biochemical Characterization Of Induced Pluripotent Stem Cell-Derived Cardiomyocytes As A Model Of Barth Syndrome [PDF]
, 2022 Barth Syndrome (BTHS) is an X-linked inborn error of metabolism (IEM) which manifests as a multi-systemic disease. One of the primary symptoms is dilated cardiomyopathy, and alongside the cardiovascular disease that arises, patients often experience ...
House, Alisha J
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Beneficial effects of SS-31 peptide on cardiac mitochondrial dysfunction in tafazzin knockdown mice
Scientific Reports, 2022 Barth Syndrome (BTHS), a genetic disease associated with early-onset cardioskeletal myopathy, is caused by loss-of-function mutations of the TAFAZZIN gene, which is responsible for remodeling the mitochondrial phospholipid cardiolipin (CL).
Silvia Russo +4 more
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Advances in methods to analyse cardiolipin and their clinical applications [PDF]
, 2022 Cardiolipin (CL) is a mitochondria-exclusive phospholipid, primarily localised within the inner mitochondrial membrane, that plays an essential role in mitochondrial architecture and function.
Bautista, Javier S +6 more
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Frontiers in Pediatrics, 2022 Barth syndrome (BTHS) is a rare X-linked recessive genetic disease, which appears in infancy with myocardial and skeletal muscle diseases, neutropenia, growth retardation, and other clinical features.
Xuliang Zhao +5 more
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Increased mtDNA abundance and improved function in human Barth syndrome patient fibroblasts following AAV-TAZ gene delivery [PDF]
, 2019 Barth syndrome (BTHS) is a rare, X-linked, mitochondrial disorder caused by mutations in the gene encoding tafazzin. BTHS results in cardiomyopathy, muscle fatigue, and neutropenia in patients.
Byrne, Barry J +7 more
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Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome [PDF]
, 2023 UNLABELLED: Barth syndrome (BTHS) is an X-linked recessive genetic disorder due to mutations in the Tafazzin (TAFAZZIN) gene that lead to cardiac and skeletal muscle mitochondrial dysfunction.
Byrne, Barry J +7 more
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Barth Syndrome: Psychosocial Impact and Quality of Life Assessment
Journal of Cardiovascular Development and Disease, 2022 Background: Barth syndrome (BTHS) is a rare X-linked genetic disease that affects multiple systems and leads to complex clinical manifestations. Although a considerable amount of research has focused on the physical aspects of the disease, less has ...
Anandbir Bath +12 more
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