Results 51 to 60 of about 808 (154)
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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Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth [PDF]
, 2010 OBJECTIVE: Barth Syndrome (BTHS) is an X-linked multisystem disorder (OMIM 302060) usually diagnosed in infancy and characterized by cardiac problems [dilated cardiomyopathy (DCM) ± endocardial fibroelastosis (EFE) ± left ventricular non-compaction (LVNC)
Acehan +29 more
core +2 more sources
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
doaj +1 more source
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
doaj +1 more source
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
core +1 more source
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
doaj +1 more source
Journal of Neuroendocrinology, Volume 32, Issue 1, January 2020., 2020 Abstract Cardiolipin (CL) is a phospholipid that is almost exclusively located in the inner mitochondrial membrane of eukaryotic cells. As a result of its unique structure and distribution, CL establishes non‐covalent bonds with a long list of proteins involved in ATP production, mitochondria biogenesis, mitophagy and apoptosis. Thus, the amount of CL,
Estefania Acaz‐Fonseca +3 more
wiley +1 more source
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
core +2 more sources
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
core +1 more source
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
doaj +1 more source