Abstract：
:Two novel mutations were identified in a compound heterozygous male with lecithin:cholesterol acyltransferase (LCAT) deficiency. Exon sequence determination of the LCAT gene of the proband revealed two novel heterozygous mutations in exons one (C110T) and six (C991T) that predict non-conservative amino acid substitutions (Thr13Met and Pro307Ser, respectively). To assess the distinct functional impact of the separate mutant alleles, studies were conducted in the proband's 3-generation pedigree. The compound heterozygous proband had negligible HDL and severely reduced apolipoprotein A-I, LCAT mass, LCAT activity, and cholesterol esterification rate (CER). The proband's mother and two sisters were heterozygous for the Pro307Ser mutation and had low HDL, markedly reduced LCAT activity and CER, and the propensity for significant reductions in LCAT protein mass. The proband's father and two daughters were heterozygous for the Thr13Met mutation and also displayed low HDL, reduced LCAT activity and CER, and more modest decrements in LCAT mass. Mean LCAT specific activity was severely impaired in the compound heterozygous proband and was reduced by 50% in individuals heterozygous for either mutation, compared to wild type family members. It is also shown that the two mutations impair both catalytic activity and expression of the circulating protein.
journal_name
J Lipid Resjournal_title
Journal of lipid researchauthors
Argyropoulos G,Jenkins A,Klein RL,Lyons T,Wagenhorst B,St Armand J,Marcovina SM,Albers JJ,Pritchard PH,Garvey WTsubject
Has Abstractpub_date
1998-09-01 00:00:00pages
1870-6issue
9eissn
0022-2275issn
1539-7262journal_volume
39pub_type
杂志文章abstract：:Epoxyeicosatrienoic acids were isolated and purified from female rabbit kidneys. They were identified as a group, prior to resolution, by packed column gas-liquid chromatography-mass spectroscopic techniques as their methyl esters as well as their trimethylsilyl bromohydrin methyl esters. Initial capillary gas-liquid ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1987-07-01 00:00:00
abstract：:The two oxysterols, 27-hydroxycholesterol (27OH) and 24S-hydroxycholesterol (24OH), are both inhibitors of cholesterol synthesis and activators of the liver X receptor (LXR) in vitro. Their role as physiological regulators under in vivo conditions is controversial, however. In the present work, we utilized a previousl...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M034124
更新日期：2013-04-01 00:00:00
abstract：:The chemical composition and metabolism of lipoproteins in a population of Benedictine nuns were studied after 5-month periods during which the predominant dietary fats were sunflower oil, peanut oil, palm oil, or milk fats (butter and cream). The population was divided into three groups. The control group (C) include...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1984-05-01 00:00:00
abstract：:A novel and rapid method for the detergent-mediated synthesis of protein-lipid complexes has been developed and has several advantages over detergent dialysis methods. This new method involves co-incubation of human apolipoprotein A-I (apoA-I), the major protein component of high density lipoproteins (HDL), and dipalm...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1988-03-01 00:00:00
abstract：:The simultaneous exchange of (3h)tocopherol and (14C)cholesterol between rat plasma, rat plasma lipoproteins, and RBC was studied in vitro to compare quantitavely (a) the fractional exchange rates and (b) the half-times for isotope equilibration. In all incubations of RBC with plasma or with plasma lipoprotein fractio...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1975-01-01 00:00:00
abstract：:Apolipoprotein A-IV (apoA-IV) has been postulated to be antiatherogenic. Transgenic APOA4/Apoe-/- mice are protected against atherosclerosis, with plasma apoA-IV displaying antioxidant activity in vitro. In humans, there is an inverse relationship between apoA-IV levels and risk of coronary heart disease (CHD). Furthe...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M400130-JLR200
更新日期：2004-08-01 00:00:00
abstract：:The biosynthesis of prostaglandins by isolated rat adrenocortical cells has been studied by determinations of products formed during incubations with labeled arachidonic acid and by radioimmunoassays. Analysis by thin-layer chromatographic separation of silicic acid column fractions indicated that PGE2, PGA2, (B2) and...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1979-01-01 00:00:00
abstract：:Cellular membranes are not homogenous mixtures of proteins; rather, they are segregated into microdomains on the basis of preferential association between specific lipids and proteins. These microdomains, called lipid rafts, are well known for their role in receptor signaling on the plasma membrane (PM) and are essent...
journal_title：Journal of lipid research
pub_type： 杂志文章,评审
doi：10.1194/jlr.TR119000383
更新日期：2020-05-01 00:00:00
abstract：:In recent years the short-chain fatty acid, 4-phenylbutyrate (PB), has emerged as a promising drug for various clinical conditions. In fact, PB has been Food and Drug Administration-approved for urea cycle disorders since 1996. PB is more potent and less toxic than its metabolite, phenylacetate (PA), and is not just a...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M075317
更新日期：2017-05-01 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：:An in vitro assay to study lipolysis of very low density lipoproteins (VLDL) by heparan sulfate proteoglycan (HSPG-bound lipoprotein lipase (LPL) was developed. Optimal conditions for VLDL lipolysis by HSPG-bound LPL were obtained by incubating plastic wells with 0.5 microg HSPG and 1.5 microg LPL, subsequently. Contr...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1997-12-01 00:00:00
abstract：:After stereospecific oxidation, trimethylsilylated methyl esters of mono- and diunsaturated fatty acids were analyzed by combined gas-liquid chromatography-chemical ionization mass spectrometry. The positions of original double bonds were deduced from the fragment ions produced by the cleavage of the carbon-carbon bon...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1978-02-01 00:00:00
abstract：:Humans and mice lacking angiopoietin-like protein 3 (ANGPTL3) have pan-hypolipidemia. ANGPTL3 inhibits two intravascular lipases, LPL and endothelial lipase, and the low plasma TG and HDL-cholesterol levels in ANGPTL3 deficiency reflect increased activity of these enzymes. The mechanism responsible for the low LDL-cho...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M054882
更新日期：2015-07-01 00:00:00
abstract：:Previous studies have reported both positive and negative effects of culture of islets at high glucose concentrations on regulated insulin secretion. Here, we have reexamined this question in mouse islets and determined the role of changes in lipid synthesis in the effects of glucose. Glucose-stimulated insulin secret...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M700533-JLR200
更新日期：2008-04-01 00:00:00
abstract：:Apolipoprotein A-I (apoA-I) induces the translocation of newly synthesized cholesterol as well as caveolin-1 to the cytosolic lipid-protein particle (CLPP) fraction in astrocytes before its appearance in high density lipoprotein generated in the medium (Ito, J., Y. Nagayasu, K. Kato, R. Sato, and S. Yokoyama. 2002. Ap...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M400222-JLR200
更新日期：2004-12-01 00:00:00
abstract：:We studied the biogenesis of apolipoprotein B (apoB) in primary hepatocytes isolated from hamster liver, an animal model with striking resemblance to humans in lipoprotein metabolism. Hamster hepatocytes were found to assemble and secrete apoB-containing lipoproteins at a density of VLDL. Intracellular mechanisms of a...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：2000-04-01 00:00:00
abstract：:Isotopic measurement of biosynthetic rates of lipids in VLDL particles has long posed difficult technical problems. In this review, key methodologic issues and recent technical advances are discussed. A common problem for all biosynthetic measurements is the requirement to measure isotopic labeling of the true intrace...
journal_title：Journal of lipid research
pub_type： 杂志文章,评审
doi：10.1194/jlr.R600018-JLR200
更新日期：2006-08-01 00:00:00
abstract：:ABCA1 exports cholesterol and phospholipids from cells by a multistep pathway that involves forming cell surface lipid domains, solubilizing these lipids by apolipoproteins, binding of apolipoproteins to ABCA1, and activating signaling processes. Here we used a mutational analysis approach to evaluate the relationship...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M800366-JLR200
更新日期：2009-02-01 00:00:00
abstract：:The effect of microbiological deconjugation of bile acids on total bile acid and neutral sterol fecal excretion by adult male rats has been studied. A screening method utilizing mice allowed selection of a Clostridium perfringens type A strain, which accelerated cholesterol catabolism in mice. When this species of bac...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1970-07-01 00:00:00
abstract：:The transfer or exchange of cholesteryl esters, triglycerides, and phospholipids between plasma very low (VLDL), low (LDL), and high (HDL) density lipoproteins is facilitated by specific lipid transfer proteins. The present report describes a method to separate donor and acceptor lipoprotein pools used in assays for l...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1982-05-01 00:00:00
abstract：:Cardiac triacylglycerol (TG) catabolism critically depends on the TG hydrolytic activity of adipose triglyceride lipase (ATGL). Perilipin 5 (Plin5) is expressed in cardiac muscle (CM) and has been shown to interact with ATGL and its coactivator comparative gene identification-58 (CGI-58). Furthermore, ectopic Plin5 ex...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M034710
更新日期：2013-04-01 00:00:00
abstract：:Previous studies have shown that reduced levels of the adipocyte fatty acid binding protein (FABP)4 (AFABP/aP2), result in metabolic improvement including potentiated insulin sensitivity and attenuated atherosclerosis. Mechanistically, pharmacologic or genetic inhibition of FABP4 in macrophages upregulates UCP2, atten...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M074542
更新日期：2017-07-01 00:00:00
abstract：:Using the "ghost method" previously applied to study the binding of palmitate to bovine serum albumin (BSA) (Bojesen, I. N., and E. Bojesen. 1992. J. Lipid Res. 33: 1327-1334) we have measured the water-phase concentrations of arachidonate (AR) and oleate (OL) in 165 mM KCl and in 165 mM NaCl, 2 mM phosphate buffer at...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1994-05-01 00:00:00
abstract：:ATP binding cassette transporter G1 (ABCG1) mediates the transport of cellular cholesterol to HDL, and it plays a key role in maintaining macrophage cholesterol homeostasis. During inflammation, HDL undergoes substantial remodeling, acquiring lipid changes and serum amyloid A (SAA) as a major apolipoprotein. In the cu...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M012328
更新日期：2011-02-01 00:00:00
abstract：:Signaling through the phosphoinositide 3-kinase pathways mediates the actions of a plethora of hormones, growth factors, cytokines, and neurotransmitters upon their target cells following receptor occupation. Overactivation of these pathways has been implicated in a number of pathologies, in particular a range of mali...
journal_title：Journal of lipid research
pub_type： 杂志文章,评审
doi：10.1194/jlr.R059154
更新日期：2016-02-01 00:00:00
abstract：:apoM is a member of the lipocalin superfamily and circulates in plasma attached to HDL particles. apoM plays a role in cholesterol metabolism and has recently been identified as transporter for the signaling lipid, sphingosine-1-phosphate (S1P), in plasma. S1P is implicated in several inflammatory diseases such as mul...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.D055947
更新日期：2015-03-01 00:00:00
abstract：:Analysis of plasma nonesterified fatty acids (NEFA) by gas-liquid chromatography requires procedures that are both lengthy and cumbersome. A 45-min direct methylation procedure was carried out at 24-29 degrees C on 150 microliter of plasma added with an internal standard in 5.0 ml of methanol-acetyl chloride 50:1 (v/v...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1988-02-01 00:00:00
abstract：:The rate-limiting step in the transit of dietary fat across the intestinal absorptive cell is its exit from the endoplasmic reticulum (ER) in a specialized ER-to-Golgi transport vesicle, the prechylomicron transport vesicle (PCTV). PCTV bud off from the ER membranes and have unique features; they are the largest ER-de...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M002758
更新日期：2010-05-01 00:00:00
abstract：:We have recently reported that the human apolipoprotein A-I (apoA-I) and apolipoprotein C-III (apoC-III) genes are physically linked and that the presence of a DNA insertion in the apoA-I gene is correlated with apoA-I-apoC-III deficiency in patients with premature atherosclerosis. In addition, the presence of a polym...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1985-04-01 00:00:00
abstract：:The spectrum of nonalcoholic fatty liver disease (NAFLD) includes steatosis, nonalcoholic steatohepatitis (NASH), and cirrhosis. Recognition and timely diagnosis of these different stages, particularly NASH, is important for both potential reversibility and limitation of complications. Liver biopsy remains the clinica...
journal_title：Journal of lipid research
pub_type： 临床试验,杂志文章,多中心研究
doi：10.1194/jlr.P056002
更新日期：2015-03-01 00:00:00
