Abstract：
:We report the molecular basis of familial chylomicronemia and recurrent pancreatitis in five members of a large Dutch family. All patients had normal plasma hepatic lipase and apoC-II levels, but absent lipoprotein lipase (LPL) catalytic activity and low LPL mass in postheparin plasma. The mutation in the LPL gene was characterized as a G715-->A substitution in the last nucleotide of exon 4, resulting in a substitution of Ser for Gly154. PCR amplification of exons 4 + 5 from the patients' mRNA, followed by direct sequencing, revealed normal splicing of intron 4. The mutation creates a BfaI restriction site that allows rapid screening of family members for the mutation. Reproduction of this mutation in LPL-cDNA by site-directed mutagenesis, followed by transient expression in COS-B cells, revealed production of a catalytically inactive enzyme. The Gly154-->Ser substitution appears in a conserved beta-sheet region, in close proximity to Asp156, which is part of the catalytic triad. These studies show that changes to residues close to Asp156 can have profound effects on catalytic activity of LPL.
journal_name
J Lipid Resjournal_title
Journal of lipid researchauthors
Bruin T,Tuzgöl S,van Diermen DE,Hoogerbrugge-van der Linden N,Brunzell JD,Hayden MR,Kastelein JJsubject
Has Abstractpub_date
1993-12-01 00:00:00pages
2109-19issue
12eissn
0022-2275issn
1539-7262journal_volume
34pub_type
杂志文章abstract：:The genus Acinetobacter is composed of ubiquitous, generally nonpathogen environmental bacteria. Interest concerning these microorganisms has increased during the last 30 years, because some strains, belonging to the so-called A. baumannii-A. calcoaceticus complex, have been implicated in some severe pathological stat...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M600323-JLR200
更新日期：2007-05-01 00:00:00
abstract：:Ecdysteroids are potent developmental regulators that control molting, reproduction, and stress response in arthropods. In developing larvae, picogram quantities of individual ecdysteroids and their conjugated forms are present along with milligrams of structural and energy storage lipids. To enhance the specificity a...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.D035949
更新日期：2013-08-01 00:00:00
abstract：:To study the effect of an unstirred layer (UL), we have investigated the exchange efflux kinetics of anandamide at 0 degrees C, pH 7.3, from albumin-free as well as from albumin-filled human red blood cell ghosts to media of various BSA concentrations ([BSA](o)). The rate constant (k(m)) of unidirectional flux from th...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M500411-JLR200
更新日期：2006-03-01 00:00:00
abstract：:ABCG1 and ABCG4 are highly homologous members of the ATP binding cassette (ABC) transporter family that regulate cellular cholesterol homeostasis. In adult mice, ABCG1 is known to be expressed in numerous cell types and tissues, whereas ABCG4 expression is limited to the central nervous system (CNS). Here, we show sig...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/M900250-JLR200
更新日期：2010-01-01 00:00:00
abstract：:Each abdominal fat depot, such as mesenteric or epididymal, differently contributes to the development of insulin resistance. The aim of this study was to identify the genetic regions that contribute to fat accumulation in epididymal/mesenteric fat and to examine whether or not the genetic regions that affect glucose ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M009563
更新日期：2010-12-01 00:00:00
abstract：:The K146N/R147W substitutions in apoE3 were described in patients with a dominant form of type III hyperlipoproteinemia. The effects of these mutations on the in vivo functions of apoE were studied by adenovirus-mediated gene transfer in different mouse models. Expression of the apoE3[K146N/R147W] mutant in apoE-defic...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M048348
更新日期：2014-07-01 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：:Trihydroxyoctadecenoic acids (TriHOMEs) are linoleic acid-derived oxylipins with potential physiological relevance in inflammatory processes as well as in maintaining an intact skin barrier. Due to the high number of possible TriHOME isomers with only subtle differences in their physicochemical properties, the stereoc...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.D087429
更新日期：2018-10-01 00:00:00
abstract：:Rates of conversion of alpha-linolenic acid (alpha-LNA, 18:3n-3) to docosahexaenoic acid (DHA, 22:6n-3) by the mammalian brain and the brain's ability to upregulate these rates during dietary deprivation of n-3 polyunsaturated fatty acids (PUFAs) are unknown. To answer these questions, we measured conversion coefficie...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M600549-JLR200
更新日期：2007-05-01 00:00:00
abstract：:Lec9 Chinese hamster ovary cells were found previously to be defective in the synthesis of N-linked glycans. This appeared to be the result of a defect in the synthesis of oligosaccharide lipid and lipid phosphate (Rosenwald, Stanley, and Krag. 1989. Mol. Cell. Biol. 9: 914-924). In this study we analyzed the steady s...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1990-03-01 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：:Multiple changes in HDL metabolism occur during infection and inflammation that could potentially impair the antiatherogenic functions of HDL. Scavenger receptor class B type I (SR-BI) promotes cholesterol efflux from peripheral cells and mediates selective uptake of cholesteryl ester into hepatocytes, thereby playing...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：2001-10-01 00:00:00
abstract：:The percentage of saturated cholesteryl esters (CEs) synthesized by human LCAT is several times higher than expected from the sn-2 acyl composition of plasma phosphatidylcholine (PC), whereas the synthesis of 20:4 CE and 22:6 CE is much lower than expected. To explain these discrepancies, we proposed that LCAT transfe...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M400197-JLR200
更新日期：2004-12-01 00:00:00
abstract：:Native LDL (nLDL) increases expression of adhesion molecules on endothelial cells through induction of Ca(2+) mobilization. Ca(2+) mobilization is also involved in the induction of proinflammatory cytokines, important mediators involved in atherogenesis. The aim of the study was to evaluate the capacity of nLDL to aff...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.m100254-jlr200
更新日期：2002-07-01 00:00:00
abstract：:There is growing evidence of the capacity of vitamin A to regulate the expression of the genetic region that encodes apolipoproteins (apo) A-I, C-III, and A-IV. This region in turn has been proposed to modulate the expression of hyperlipidemia in the commonest genetic form of dyslipidemia, familial combined hyperlipid...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1999-03-01 00:00:00
abstract：:We previously showed that immunization of guinea pigs with reductively glucosylated guinea pig low density lipoprotein (LDL) or albumin resulted in the formation of antibodies specific for the glucosylated protein. The present studies were done to determine if modifications of homologous LDL or albumin, other than add...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1984-10-01 00:00:00
abstract：:Lymph chylomicrons of different sizes are known to be cleared at different rates, but the underlying mechanism for this effect has not been resolved. To investigate the differences in clearance rates between small and large particles, chylomicron-like lipid emulsions labeled with radioactive triolein and cholesteryl o...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1996-12-01 00:00:00
abstract：:The facile synthesis of lithocholic acids sulfates by a procedure that produced the desired products in over 90% yield is described. Lithocholic acid sulfate and glycolithocholic acid sulfate were synthesized by reacting lithocholic acid or glycolithocholic acid with sulfur trioxide-triethylamine complex in dimethylfo...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1977-07-01 00:00:00
abstract：:Recent discovery and characterization of APOAV suggests a role in metabolism of triglyceride (TG)-rich lipoproteins. Previously, variation at the APOAV locus was shown to modestly influence plasma TGs in normolipidemic samples. The aims of this study were to assess the effects of a polymorphism in APOAV (T-1131C) in t...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M200480-JLR200
更新日期：2003-06-01 00:00:00
abstract：:Evidence is given that the heart of the cardiomyopathic UM-X7.1 hamster has a lipid composition different from that of the same tissue isolated from animals of the Syrian hamster parent strain. Also, noncardiac tissues from cardiomyopathic and healthy hamsters exhibit significant compositional differences. On the basi...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：2001-01-01 00:00:00
abstract：:This review focuses on adipose tissue biology and introduces the concept of adipose tissue plasticity and expandability as key determinants of obesity-associated metabolic dysregulation. This concept is fundamental to our understanding of adipose tissue as a dynamic organ at the center of nutritional adaptation. Here,...
journal_title：Journal of lipid research
pub_type： 杂志文章,评审
doi：10.1194/jlr.R700005-JLR200
更新日期：2007-06-01 00:00:00
abstract：:A photocolorimeter for rapid automatic titration of free fatty acids is described. The solvents, absolute ethanol and hexane, form a single-phase titration mixture containing Nile blue indicator. The titrant, NaOH in 60% ethanol, is delivered by a motor-driven microsyringe; as alkali is added and the titration mixture...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1966-11-01 00:00:00
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 substituti...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1998-09-01 00:00:00
abstract：:The methanolyzed lipids of the extreme halophile, Halobacterium cutirubrum, were separated into glycerol diether and glycerol monoether fractions. The diether was shown by synthesis to be 2,3-di-O-(3'R,7'R,11'R,15'-tetramethylhexadecyl)-sn-glycerol. The monoether fraction was separated by thin-layer chromatography on ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1968-11-01 00:00:00
abstract：:Binding of the medium-chain fatty acids (MCFA), octanoic (OCT) and decanoic (DEC) acid, to human serum albumin (HSA) has been studied by 13C NMR spectroscopy. NMR spectra at 35 degrees C showed an apparently homogeneous binding environment (a single, narrow resonance for the 13C-enriched carboxyl carbon) at different ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1994-03-01 00:00:00
abstract：:Chylomicron metabolism is critical for determining plasma levels of triacylglycerols (TAGs) and cholesterol, both of which are risk factors for CVD. The rates of chylomicron secretion and remnant clearance are controlled by intracellular and extracellular factors, including apoC-III. We have previously shown that huma...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M092460
更新日期：2019-09-01 00:00:00
abstract：:Elongation of very long chain fatty acids (ELOVL)5 is one of seven mammalian fatty acid condensing enzymes involved in microsomal fatty acid elongation. To determine the in vivo substrates and function of ELOVL5, we generated Elovl5(-/-) mice. Studies using liver microsomal protein from wild-type and knockout mice dem...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M800383-JLR200
更新日期：2009-03-01 00:00:00
abstract：:The relative rates of hydrolysis of the secondary ester in glycerol 1,3-benzylidene 2-oleate and in glycerol 1,3-dihexadecyl ether 2-oleate, and of the primary and secondary esters in triolein were determined. Both unaltered and selectively inactivated rat pancreatic juice were used as sources of enzyme. It was found ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1968-01-01 00:00:00
abstract：:The bile acid (BA) composition in mice is substantially different from that in humans. Chenodeoxycholic acid (CDCA) is an end product in the human liver; however, mouse Cyp2c70 metabolizes CDCA to hydrophilic muricholic acids (MCAs). Moreover, in humans, the gut microbiota converts the primary BAs, cholic acid and CDC...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.RA119000395
更新日期：2020-01-01 00:00:00
abstract：:Plasma lipoprotein lipase (LPL) activity correlates with high density lipoprotein (HDL) cholesterol levels in humans. However, in several mouse models created either through transgenesis or targeted inactivation of LPL, no significant changes in HDL cholesterol values have been evident. One possible explanation for th...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1997-10-01 00:00:00
