Abstract：
:Lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes represent a group of rare genetic disorders of HDL metabolism that have been the subject of a large number of clinical, biochemical, and genetic studies. Of special interest are patients with LCAT-related disorders with severe HDL deficiency and the apparent absence of premature atherosclerosis. This finding is inconsistent with the general concept that low HDL cholesterol levels are an obligate risk factor for atherosclerosis. In this review, we describe 36 natural mutations in the LCAT gene that result in either familial LCAT deficiency (FLD) or the milder phenotype known as fish-eye disease (FED). We propose a new classification of the natural mutations of the LCAT gene that are described to date. The defects are divided into four classes based on both the clinical and biochemical characterization of the patient and data that were obtained from the functional assessment of the mutant proteins. We define FLD-associated mutations that underlie a complete or nearly complete loss of LCAT activity due to null mutations (Class 1), and missense mutations (Class 2), respectively. In addition, we distinguish two classes of FED-associated mutations (Classes 3, 4) that underlie a partial impairment of LCAT activity but differ in their lipoprotein substrate specificity. In addition, we review the evidence of atherosclerosis in subjects with LCAT deficiency syndromes. The observation that 6 (all males) of a total of 19 FED subjects suffered from premature CAD (as defined by < 55 years of age and < 60 years of age for women and men, respectively) challenges the earlier assumption that the FED phenotype is not associated with increased risk of CAD. However, premature CAD remains an unusual clinical complication in FLD subjects.
journal_name
J Lipid Resjournal_title
Journal of lipid researchauthors
Kuivenhoven JA,Pritchard H,Hill J,Frohlich J,Assmann G,Kastelein Jsubject
Has Abstractpub_date
1997-02-01 00:00:00pages
191-205issue
2eissn
0022-2275issn
1539-7262journal_volume
38pub_type
杂志文章,评审abstract：:The novel acyl-CoA:cholesterol acyltransferase (ACAT) inhibitor CP-113,818 has been characterized in vitro against ACAT isolated from liver and intestine from a variety of species including human subjects, and in vivo in cholesterol-fed rats, hamsters, rabbits, and two species of nonhuman primates. CP-113,818 is a pot...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1994-10-01 00:00:00
abstract：:Low density lipoproteins (LDL), isolated by ultracentrifugal flotation, were oxidized (LDLOXID) slowly during dialysis against 0.15 M NaCl and subsequent incubation in 96% air-4% CO2 at 37 degrees C. Butylated hydroxytoluene prevented LDL oxidation. LDL preparations from different sera were oxidized at different rates...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1989-02-01 00:00:00
abstract：:Lipoprotein electrophoresis on agarose gel has been modified to allow estimation of the absolute quantity of each fraction. The reproducibility of the method is illustrated by 12 determinations in a single day on serum from one normal subject: mean total dye uptake was 302 +/- 9 (sd "corrected dye units," and the perc...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1971-07-01 00:00:00
abstract：:A woman with primary lipoprotein lipase (LPL) deficiency developed marked hypertriglyceridemia, pancreatitis, eruptive xanthomas, and unusual palmar xanthomas during pregnancy. Hypotheses to account for the palmar xanthomas were that oxidative modification of triglyceride (TG)-rich lipoproteins occurred due to increas...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1996-05-01 00:00:00
abstract：:The secondary bile acid lithocholic acid (LCA) and its derivatives act as selective modulators of the vitamin D receptor (VDR), although their structures fundamentally differ from that of the natural hormone 1α,25-dihydroxyvitamin D3 [1,25(OH)2D3)]. Here, we have determined the crystal structures of the ligand-binding...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M038307
更新日期：2013-08-01 00:00:00
abstract：:In Tangier disease, absence of ATP binding cassette transporter A1 (ABCA1) results in reduced plasma HDL and elevated triglyceride (TG) levels. We hypothesized that hepatocyte ABCA1 regulates VLDL TG secretion through nascent HDL production. Silencing of ABCA1 expression in oleate-stimulated rat hepatoma cells resulte...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M900083
更新日期：2010-04-01 00:00:00
abstract：:This paper describes the purification and some of the properties of an enzyme from human spleen that catalyzes the hydrolysis of sphingomyelin with the formation of ceramide and phosphoryl choline. The enzyme, which is located in the subcellular particulate fraction that sediments between 700 and 8500 g, is readily ma...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1967-05-01 00:00:00
abstract：:The effect of inhibiting lysosomal protein degradation on the activity of 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase was determined using a mouse mammary cell line (TS-85) which expresses a temperature-sensitive mutation in the ubiquitin degradative pathway. Incubating cells for 18 hr in medium containi...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1986-03-01 00:00:00
abstract：:Exosomes are bioactive vesicles released from multivesicular bodies (MVB) by intact cells and participate in intercellular signaling. We investigated the presence of lipid-related proteins and bioactive lipids in RBL-2H3 exosomes. Besides a phospholipid scramblase and a fatty acid binding protein, the exosomes contain...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M003657
更新日期：2010-08-01 00:00:00
abstract：:A simple, rapid, inexpensive method for isolating disaturated phosphatidylcholine from adult rat lung has been devised. Total lipids are reacted with osmium tetroxide dissolved in carbon tetrachloride, and the disaturated phosphatidylcholine is isolated on a column of neutral alumina. More than 99% of the fatty acids ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1976-05-01 00:00:00
abstract：:Free fat cells and stromal-vascular cells were prepared from rat adipose tissue by incubation with collagenase. NH(4)OH-NH(4)Cl extracts of acetone-ether powders prepared from fat cells contained lipoprotein lipase activity but extracts of stromal-vascular cells did not. Intact fat cells released lipoprotein lipase ac...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1969-07-01 00:00:00
abstract：:We report a new genetic defect in the lecithin:cholesterol acyltransferase (LCAT) gene associated with classical clinical and biochemical features of fish eye disease. The 63-year-old Australian female proband also suffers from non-insulin-dependent (type II) diabetes mellitus. She presented with corneal opacities, ma...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
abstract：:Tuberculosis is a major cause of mortality and morbidity due to infectious disease. However, current clinical diagnostic methodologies such as PCR, sputum culture, or smear microscopy are not ideal. Antibody-based assays are a suitable alternative but require specific antibodies against a suitable biomarker. Mycolic a...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.D036137
更新日期：2013-10-01 00:00:00
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journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1995-06-01 00:00:00
abstract：:Elongation of very long chain fatty acid-like family member 6 (ELOVL6) is a fatty acyl elongase that performs the initial and rate-limiting condensing reaction required for microsomal elongation of long-chain fatty acids. Our previous in vitro studies suggested that ELOVL6 elongated long-chain saturated fatty acids an...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M054353
更新日期：2014-12-01 00:00:00
abstract：:The amphipathic alpha helix is an often-encountered secondary structural motif in biologically active peptides and proteins. An amphipathic helix is defined as an alpha helix with opposing polar and nonpolar faces oriented along the long axis of the helix. In a recent review article we grouped amphipathic helixes into...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1992-02-01 00:00:00
abstract：:Analytical isoelectric focusing (IEF) has been applied to the study of the apolipoprotein components of rat serum high density and very low density lipoproteins. The apolipoproteins were separated on 7.5% polyacrylamide gels containing 6.8% urea, with a pH gradient of 4-6. The middle molecular weight range apolipoprot...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1977-01-01 00:00:00
abstract：:SREBP-2 activates transcription of all genes needed for cholesterol biosynthesis. To study SREBP-2 function in the intestine, we generated a mouse model (Vil-BP2-/- ) in which Cre recombinase ablates SREBP-2 in intestinal epithelia. Intestines of Vil-BP2-/- mice had reduced expression of genes required for sterol synt...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M077610
更新日期：2017-10-01 00:00:00
abstract：:Spontaneously transformed mouse fibroblasts (Balb/c 3T12-3 cells) displayed an increased adhesion when cultured in the presence of 10(-6) M all-trans retinol and acquired morphological characteristics of the normal phenotype. Thus it was of interest to investigate the metabolism of [15-(14)C]retinol in this system. Wi...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1979-03-01 00:00:00
abstract：:Wax esters are neutral lipids exhibiting desirable properties for lubrication. Natural sources have traditionally been whales. Additionally some plants produce wax esters in their seed oil. Currently there is no biological source available for long chain length monounsaturated wax esters that are most suited for indus...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M029512
更新日期：2012-10-01 00:00:00
abstract：:EPA and DHA are not biologically equivalent; however, their individual activity on B cells is unknown. We previously reported fish oil enhanced murine B-cell activity in obesity. To distinguish between the effects of EPA and DHA, we studied the ethyl esters of EPA and DHA on murine B-cell function as a function of tim...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M049809
更新日期：2014-07-01 00:00:00
abstract：:Apolipoprotein L is a newly recognized component of human plasma lipoproteins. Mainly associated with apoA-I-containing lipoproteins, it is a marker of distinct HDL subpopulations. In an effort to gain inference as to its as yet unknown function, we studied biological determinants of apoL levels in human plasma. The d...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：2000-08-01 00:00:00
abstract：:The apoE gene exhibits two common polymorphisms that have been associated with both coronary artery disease and Alzheimer's disease. The polymorphisms create the three allelic isoforms E2, E3, and E4 which are encoded by Cys;-Cys, Cys;-Arg, and Arg;-Arg at amino acid positions 112 and 158, respectively. Numerous metho...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1999-12-01 00:00:00
abstract：:The density distribution of electronegative LDL [LDL(-)], a cytotoxic and inflammatory fraction of LDL present in plasma, was studied in 10 normolipemic (NL), 6 FH, and 11 hypertriglyceridemic (HTG) subjects. Six LDL subclasses of increased density (LDL1 to LDL6) were isolated by density-gradient ultracentrifugation (...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：2002-05-01 00:00:00
abstract：:The extent of hypercholesterolemia varies considerably in patients with familial hypercholesterolemia (FH). We hypothesized that the variability of the FH phenotype might be partly explained by variation in proprotein convertase subtilisin kexin type 9 (PCSK9) activity. Individuals between 18 and 53 years of age who h...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.P023994
更新日期：2012-05-01 00:00:00
abstract：:In mammals, the apolipoprotein (apo) A-I gene is expressed predominantly in liver and intestine, while in avian species it is expressed in all tissues. Although liver and intestine are the major sites of chicken apoA-I mRNA synthesis, there are appreciable amounts of apoA-I mRNA in kidney, ovary/testes, brain, lung, s...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1992-06-01 00:00:00
abstract：:The effects of vitamin E on the activity of membrane-dependent enzymes suggest that it acts indirectly by modifying some properties of the lipid host. The effects of alpha-tocopherol (alpha-T) and alpha-tocopherol hemisuccinate (alpha-THS) on phospholipid monolayer structure, curvature, and bending elasticity were exa...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M300146-JLR200
更新日期：2003-10-01 00:00:00
abstract：:The demand to study the cellular localization of specific lipids has led to recent advances in lipid probes and microscopy. Alkyne lipids bear a small, noninterfering tag and can be detected upon click reaction with an azide-coupled reporter. Fluorescent alkyne lipid imaging crucially depends on appropriate azide repo...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.D070565
更新日期：2016-10-01 00:00:00
abstract：:Phospholipase was isolated (in two fractions) from Vipera palestinae venom and it was shown to possess phospholipase A activity (hydrolyzing diacyl-sn-glycerophosphorylcholines, e.g., lecithin, in the 2-position) as well as lysophospholipase (phospholipase B) activity (hydrolyzing 1-monoacyl-sn-glycerophosphorylcholin...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1973-05-01 00:00:00
abstract：:A preparation of cerebral microvessels was used to demonstrate the presence of lipoprotein lipase and acid lipase activity in the microvasculature of rabbit brain. Microvessels, consisting predominantly of capillaries, small arterioles, and venules, were islated from rabbit brain. Homogenates were assayed for lipolyti...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1979-05-01 00:00:00
