نتایج جستجو برای: lpl gene
تعداد نتایج: 1142430 فیلتر نتایج به سال:
To test the possibility that variations in macrophage lipoprotein lipase (LPL) secretion may constitute one of the hereditary components of atherosclerosis, we evaluated LPL gene expression and secretion in macrophages harvested from inbred mouse strains differing in their susceptibility to the diet-induced development of atherosclerosis. Inflammatory peritoneal macrophages harvested from ather...
Lipoprotein lipase (LPL) is widely expressed in skeletal muscles, cardiac muscles as well as adipose tissue and involved in the catabolism of triglyceride. Herein we have systematically characterized two novel loss-of-function mutations in LPL from a Chinese family in which afflicted members were manifested by severe hypertriglyceridemia and recurrent pancreatitis. DNA sequencing revealed that ...
Abbreviations: CM – chylomicrons, GPIHBP1 – glycosylphosphatidylinositol anchored-HDL-binding protein 1, HC – hypercholesterolaemia, HDL – high-density lipoprotein, HTG – hypertriglyceridaemia, LPL – lipoprotein lipase, MCT – medium-chain triglyceride, SNP – single-nucleotide polymorphism, TG – triglycerides, VLDL – very low-density lipoproteins. Abstract. Lipoprotein lipase (LPL) deficiency, c...
OBJECTIVES We sought to identify polymorphisms in genes that predispose to restenosis. BACKGROUND Variations in the lipoprotein lipase (LPL) gene have been implicated in a number of pathophysiologic conditions associated with coronary heart disease. The present study examines the impact of polymorphisms in the LPL gene on restenosis (defined by target vessel revascularization [TVR]) in a larg...
UNLABELLED While reviewing chronic lymphocytic leukemia (CLL) bone marrow slides, we identified cytoplasmic lipid vacuoles in CLL cells but not in normal B cells. Because lipoprotein lipase (LPL), which catalyzes hydrolysis of triglycerides into free fatty acids (FFA), is aberrantly expressed in CLL, we investigated whether LPL regulates the oxidative metabolic capacity of CLL cells. We found t...
Familial combined hyperlipidemia (FCHL) is a frequent cause of premature coronary artery disease. Affected family members are characterized by different combinations of elevated cholesterol and/or triglyceride levels. A reduction in lipoprotein lipase (LPL) activity has been observed in a subgroup of FCHL patients. Recently, we have demonstrated an increased frequency of mutations in the LPL ge...
Variant S447X To the Editor: Ross et al recently reported a dazzling series of in vivo experiments1 showing reversal of abnormal biochemical phenotypes in Lpl / mice through adenoviral-mediated gene transfer of the socalled “gain-of-function” S447X prematurely truncated human variant of lipoprotein lipase (LPL or LIPD). Furthermore, all readouts in lipase-deficient mice treated with this human ...
C-II (Apo cII), lipase maturation factor 1 (LFM1), glycosylphosphatidylinositolanchored high density lipoprotein binding protein 1 (GPIHBP1) and apoprotein A5 (APO5) [7]. The accurate diagnosis of the genetic cause in a specific family is now feasible and enables detection of novel mutations in candidate genes, as shown by Behar et al. in their current report [6]. Another group is Israel used a...
Lipoprotein lipase (LPL) deficiency is a rare, hereditary disorder of lipoprotein metabolism characterised by severely increased triglyceride levels, and associated with an increased risk for pancreatitis. Since no adequate treatment modality is available for this disorder, we set out to develop an LPL gene therapy protocol. This paper focuses on the clinical presentation of LPL deficiency, sum...
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