Results 91 to 100 of about 3,551 (191)
Scientific ReportsBarth syndrome (BTHS) is a lethal rare genetic disorder, which results in cardiac dysfunction, severe skeletal muscle weakness, immune issues and growth delay.
Silvia Russo +4 more
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Mitochondria as Regulators of Nonapoptotic Cell Death in Cancer
MedComm, Volume 6, Issue 8, August 2025.Mitochondrial fission and fusion are key processes in maintaining cellular health. Fission is driven by proteins like, Fis‐1, which recruits DRP‐1, to facilitate the division of mitochondria. Fusion, however, is mediated by mitofusion 1(MFN1), mitofusion 2(MFN2), and optic atrophy 1 (OPA1), which work together to merge mitochondria, allowing functional
Saloni Malla +8 more
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A biophysical approach to large-scale protein-DNA binding data [PDF]
, 2008 About this book * Cutting-edge genome analysis methods from leading bioinformaticians An accurate description of current scientific developments in the field of bioinformatics and computational implementation is presented by research of the BioSapiens ...
Manke, T., Roider, H., Vingron, M.
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Rapeseed oil-rich diet alters in vitro menadione and nimesulide hepatic mitochondrial toxicity [PDF]
, 2013 Diet-induced changes in the lipid composition of mitochondrial membranes have been shown to influence physiological processes. However, the modulation effect of diet on mitochondrially-active drugs has not yet received the deserved attention.
Jurado, A. S. +3 more
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Characterization of a Transgenic Short Hairpin RNA-Induced Murine Model of Tafazzin Deficiency [PDF]
Human Gene Therapy, 2011 Barth's syndrome (BTHS) is an X-linked mitochondrial disease that is due to a mutation in the Tafazzin (TAZ) gene. Based on sequence homology, TAZ has been characterized as an acyltransferase involved in the metabolism of cardiolipin (CL), a unique phospholipid almost exclusively located in the mitochondrial inner membrane.
Meghan S, Soustek +6 more
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The effect of thyroxine on ATP-sensitive potassium channels and cardiolipin synthesis [PDF]
, 2015 甲亢性心脏病（HyperthyroidHeartDisease,HHD）是甲状腺功能亢进（Hyperthyrodism）的严重并发症，严重危害患者的生命健康，但其机制尚未完全阐明。心磷脂（Cardiolipin，CL）是主要位于线粒体内膜的特殊磷脂，在维持正常的线粒体功能中具有至关重要的作用。本课题组前期研究表明甲亢小鼠心脏中心磷脂含量升高，并且心磷脂参与甲亢性心脏病的病理过程。此外，文献资料显示甲亢会引起心磷脂侧链的C18:2的丢失，同时引起侧链中多不饱和脂肪酸含量的增多 ...
侯琦
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PLoS ONE, 2023 Barth Syndrome is a rare, X-linked disorder caused by mutation of the gene TAFAZZIN (TAZ). The corresponding Tafazzin protein is involved in the remodeling of cardiolipin, a phospholipid with critical roles in mitochondrial function.
Kristin Richardson, Robert Wessells
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Therapies for Mitochondrial Disease: Past, Present, and Future
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT Mitochondrial disease is a diverse group of clinically and genetically complex disorders caused by pathogenic variants in nuclear or mitochondrial DNA‐encoded genes that disrupt mitochondrial energy production or other important mitochondrial pathways. Mitochondrial disease can present with a wide spectrum of clinical features and can often be
Megan Ball +5 more
wiley +1 more source
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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Different anti-adipogenic effects of bio-compounds on primary visceral pre-adipocytes and adipocytes. [PDF]
, 2016 Several natural compounds exhibit strong capacity for decreasing triglyceride accumulation, enhancing lipolysis and inducing apoptosis. The present study reports the anti-adipogenic effects of Silybum marianum (SL), Citrus aurantium (CA), Taraxacum ...
Colitti, Monica, Stefanon, Bruno
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