Results 111 to 120 of about 3,950 (204)
Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors
Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.ABSTRACT Glycerophospholipids (GPLs) are the main lipid components of cellular membranes. They are implicated in membrane structure, vesicle trafficking, neurotransmission, and cell signalling. GPL molecules are amphiphilic, organized around the three carbons of glycerol. Positions sn‐1 and sn‐2 are each esterified to a fatty acid (FA).
Foudil Lamari +2 more
wiley +1 more source
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
openaire +2 more sources
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
core
Cardiolipin provides an essential activating platform for caspase-8 on mitochondria [PDF]
, 2008 Cardiolipin is a mitochondria-specific phospholipid known to be intimately involved with apoptosis. However, the lack of appropriate cellular models to date restricted analysis of its role in cell death.
Brooks, David G. +8 more
core +2 more sources
Clinical Case Reports, Volume 13, Issue 2, February 2025.ABSTRACT Congenital long QT syndrome (LQTS) is a genetic disorder causing prolonged QT intervals and an increased risk of arrhythmias and sudden cardiac death. With 25% of cases lacking known genetic mutations, diagnosis and treatment can be challenging.
Clement Tan +3 more
wiley +1 more source
Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy [PDF]
, 2015 published_or_final_versio
Asselbergs, FW +23 more
core +1 more source
Journal of Cellular and Molecular Medicine, Volume 29, Issue 3, February 2025.ABSTRACT Lipotoxicity plays a crucial role in the progression of diabetic kidney disease (DKD), yet the dynamic changes in renal lipid composition from diabetes to early‐stage DKD remain unclear. Free fatty acids, lactosylceramides and cardiolipin (CL) were identified as the most significantly altered lipids by quantitatively comparing targeted lipids ...
Zhijie Li +8 more
wiley +1 more source
Mitochondrial membrane synthesis, remodelling and cellular trafficking
Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.Abstract Mitochondria are dynamic cellular organelles with complex roles in metabolism and signalling. Primary mitochondrial disorders are a group of approximately 400 monogenic disorders arising from pathogenic genetic variants impacting mitochondrial structure, ultrastructure and/or function.
Martina Messina +2 more
wiley +1 more source
Newsletter, 2011-09, no. 56 [PDF]
, 2011 The newsletter contains both association business and material of interest to midwives and related health care workers.The Association's name has changed several times based on the newsletter: from January 1992 - January 1997 it was The Alliance of Nurse-
core
Genetics of human and canine dilated cardiomyopathy [PDF]
, 2015 Cardiovascular disease is a leading cause of death in both humans and dogs. Dilated cardiomyopathy (DCM) accounts for a large number of these cases, reported to be the third most common form of cardiac disease in humans and the second most common in dogs.
Cobb, Malcolm +5 more
core +5 more sources