Abstract：
:Niemann-Pick type C1 disease (NPC1) is an autosomal recessive lysosomal storage disorder characterized by neonatal jaundice, hepatosplenomegaly, and progressive neurodegeneration. The present study provides the lipid profiles, mutations, and corresponding associations with the biochemical phenotype obtained from NPC1 patients who participated in the National NPC1 Disease Database. Lipid profiles were obtained from 34 patients (39%) in the survey and demonstrated significantly reduced plasma LDL cholesterol (LDL-C) and increased plasma triglycerides in the majority of patients. Reduced plasma HDL cholesterol (HDL-C) was the most consistent lipoprotein abnormality found in male and female NPC1 patients across age groups and occurred independent of changes in plasma triglycerides. A subset of 19 patients for whom the biochemical severity of known NPC1 mutations could be correlated with their lipid profile showed a strong inverse correlation between plasma HDL-C and severity of the biochemical phenotype. Gene mutations were available for 52 patients (59%) in the survey, including 52 different mutations and five novel mutations (Y628C, P887L, I923V, A1151T, and 3741_3744delACTC). Together, these findings provide novel information regarding the plasma lipoprotein changes and mutations in NPC1 disease, and suggest plasma HDL-C represents a potential biomarker of NPC1 disease severity.
journal_name
J Lipid Resjournal_title
Journal of lipid researchauthors
Garver WS,Jelinek D,Meaney FJ,Flynn J,Pettit KM,Shepherd G,Heidenreich RA,Vockley CM,Castro G,Francis GAdoi
10.1194/jlr.P000331subject
Has Abstractpub_date
2010-02-01 00:00:00pages
406-15issue
2eissn
0022-2275issn
1539-7262pii
jlr.P000331journal_volume
51pub_type
杂志文章abstract：:Membrane-protein interaction plays key roles in a wide variety of biological processes. Although various methods have been employed to measure membrane binding of soluble proteins, a robust high-throughput assay that is universally applicable to all proteins is lacking at present. Here we report a new fluorescence que...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.D041376
更新日期：2013-12-01 00:00:00
abstract：:Lysophosphatidic acid (LPA) is a receptor-active lipid mediator with a broad range of biological effects. Ovarian cancer cells synthesize LPA, which promotes their motility, growth, and survival. We show that a murine homolog of a human protein previously reported to hydrolyze LPA is a highly selective detergent-stimu...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M300188-JLR200
更新日期：2003-10-01 00:00:00
abstract：:Recent studies from our laboratory (Yancey, P.G., and R. W. St. Clair. 1992. Arterioscler. Thromb. 12: 1291-1304) have shown that cultured peritoneal macrophages from White Carneau (WC) pigeons clear cholesteryl esters at a slower rate than do macrophages from Show Racer (SR) pigeons (9% per 24 h vs. 42% per 24 h, res...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1994-12-01 00:00:00
abstract：:Supernatant protein factor (SPF) and anionic phospholipids such as phosphatidylglycerol (PG) stimulate squalene epoxidase activity in rat liver microsomes by promoting [3H]squalene uptake as well as substrate translocation (Chin, J., and K. Bloch. 1984. J. Biol. Chem. 259: 11735-11738). This process is postulated to b...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1985-07-01 00:00:00
abstract：:13C-NMR spectroscopy was used to examine the effect of side chain length on the ionization properties and transmembrane transport rate of 3 alpha,7 alpha-dihydroxy bile acids. When solubilized in taurocholate micelles, [23-13C]nor-chenodeoxycholic acid (nor-CDCA) had a pKa of 6.1, similar to that of CDCA (pKa 6.2), it...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1994-05-01 00:00:00
abstract：:Bovine aortic endothelial cells take up 12-hydroxyeicosatetraenoic acid (12-HETE), a lipoxygenase product formed from arachidonic acid. The uptake of [3H]12-HETE reached a maximum in 2 to 4 h. At this time, from 75 to 80% of the incorporated radioactivity was contained in phospholipids, about 85% of the esterified rad...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1990-12-01 00:00:00
abstract：:Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder characterized by low plasma cholesterol and high 7-dehydrocholesterol (7-DHC). Synthesis of cholesterol and 7-DHC and its metabolites is regulated by HMG-CoA reductase, whose activity can be measured by 24-h excretion of its product mevalonate. We devised a simpl...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.m200163-jlr200
更新日期：2002-10-01 00:00:00
abstract：:Retinoic acid (RA), the active metabolite of vitamin A, is required for spermatogenesis and many other biological processes. RA formation requires irreversible oxidation of retinal to RA by aldehyde dehydrogenase enzymes of the 1A family (ALDH1A). While ALDH1A1, ALDH1A2, and ALDH1A3 all form RA, the expression pattern...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M054718
更新日期：2015-02-01 00:00:00
abstract：:Trans-10,cis-12 conjugated linoleic acid (CLA) has previously been shown to be the CLA isomer responsible for CLA-induced reductions in body fat in animal models, and we have shown that this isomer, but not the cis-9,trans-11 CLA isomer, specifically decreased triglyceride (TG) accumulation in primary human adipocytes...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M300001-JLR200
更新日期：2003-07-01 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：:Black tea is one of the world's most popular beverages, and its health-promoting effects have been intensively investigated. The antiobesity and hypolipidemic effects of black tea have attracted increasing interest, but the mechanisms underlying these phenomena remain unclear. In the present study, the black tea major...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M700128-JLR200
更新日期：2007-11-01 00:00:00
abstract：:Boiled coffee contains an unidentified lipid that raises serum cholesterol. We studied the effects of the ingestion of coffee oil fractions of increasing purity in volunteers in order to identify the cholesterol-raising factor. In 15 volunteers who ingested 0.75 g/d of a non-triglyceride-fraction from coffee oil for 4...
journal_title：Journal of lipid research
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：1994-04-01 00:00:00
abstract：:Matrix-assisted laser desorption/ionization-mass spectrometry (MALDI-MS) has been applied primarily to the analysis of glycosphingolipids separated from other complex mixtures by TLC, but it is difficult to obtain quantitative profiling of each glycosphingolipid among the different spots on TLC by MALDI-MS. Thus, the ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.D800038-JLR200
更新日期：2008-12-01 00:00:00
abstract：:In addition to functioning as detergents that aid digestion of dietary lipids in the intestine, some bile acids have been shown to exhibit antimicrobial activity. However, detailed information on the bactericidal activities of the diverse molecular species of bile acid in humans and rodents is largely unknown. Here, w...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M075143
更新日期：2017-06-01 00:00:00
abstract：:Inhibition of Ehrlich ascites carcinoma respiration by aqueous extracts of oxidized linoleic or linolenic acid (aqueous emulsions UV-irradiated, 90 min) was associated entirely with relatively involatile compounds which were both thiobarbituric acid (TBA)-reactive and peroxidase-reactive. Inhibitory compounds were hea...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1966-05-01 00:00:00
abstract：:A multiplexed assay was developed by MS to analyze, in a single run, six major human Apos involved in lipoprotein metabolism: ApoA-I, ApoA-II, ApoB100, ApoC-II, ApoC-III, and ApoE. This method was validated in vivo in six subjects who received a 14 h constant infusion of [5,5,5-(2)H3]L-leucine at 10 μM/kg/h. Plasma li...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.D064618
更新日期：2016-03-01 00:00:00
abstract：:Several studies have documented the presence of Lp[a] in nonhuman primates. However, data are lacking in great apes such as the chimpanzee. We have studied the quantitative distribution of Lp[a], as well as the frequency of apo[a] phenotypes, in a population of chimpanzees living in Gabon. Monoclonal antibody 14A12, d...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1994-02-01 00:00:00
abstract：:The antitumor effect of daily individual administration of eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) (2 g/kg body weight) in Balb/c mice bearing a transplantable thymoma was investigated. Mice received oleic acid (control group), EPA and DHA ethyl esters starting 10 days before tumor inoculation. Anal...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：2000-02-01 00:00:00
abstract：:The acylation of glycerol-3-phosphate by acyl-CoA is regarded as the first committed step for the synthesis of the lipoidal moiety in glycerolipids. The direct acylation of glycerol in mammalian tissues has not been demonstrated. In this study, lipid biosynthesis in myoblasts and hepatocytes was reassessed by conducti...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：2001-12-01 00:00:00
abstract：:The skin surface represents our interface with the external environment, and as such, is our first line of defense against microbial colonization and infection. Lipids at the skin surface are thought to underlie at least part of an antimicrobial barrier. Some of these lipids are synthesized in the epidermis and are ca...
journal_title：Journal of lipid research
pub_type： 杂志文章,评审
doi：10.1194/jlr.R700016-JLR200
更新日期：2008-01-01 00:00:00
abstract：:The rate of peroxidation of unconjugated bilirubin (UCB), catalyzed by horseradish peroxidase (HRP), has been employed by Jacobsen (1969. FEBS Lett. 5: 112-114) to assess the fraction of unbound UCB in the presence of serum albumin. We used this method to examine the interactions of UCB with taurocholate (TC) at pH 8....
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1987-06-01 00:00:00
abstract：:The surface behavior of a series of cholesteryl esters was studied in mixtures with a model phospholipid, 1-palmitoyl-2-oleoyl phosphatidylcholine. The cholesteryl esters were representative of the predominant forms occurring naturally and qualitative similarities in their phase behavior permits generalization of thei...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1987-09-01 00:00:00
abstract：:Atherogenic mixed dyslipidemia associates with oxidative stress and defective HDL antioxidative function in metabolic syndrome (MetS). The impact of statin treatment on the capacity of HDL to inactivate LDL-derived, redox-active phospholipid hydroperoxides (PCOOHs) in MetS is indeterminate. Insulin-resistant, hypertri...
journal_title：Journal of lipid research
pub_type： 临床试验,杂志文章
doi：10.1194/jlr.P068585
更新日期：2016-11-01 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：: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：:Human endothelial lipase (EL), a member of the triglyceride lipase gene family, has five potential N-linked glycosylation sites, two of which are conserved in both lipoprotein lipase and hepatic lipase. Reduction in molecular mass of EL after treatment with glycosidases and after treatment of EL-expressing cells with ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M400162-JLR200
更新日期：2004-11-01 00:00:00
abstract：:Niemann-Pick type C (NPC) disease is a multisystem disorder resulting from mutations in the NPC1 gene that encodes a protein involved in intracellular cholesterol trafficking. Significant liver dysfunction is frequently seen in patients with this disease. The current studies used npc1 mutant mice to investigate the as...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M600488-JLR200
更新日期：2007-04-01 00:00:00
abstract：:The binding of monoacylglycerides of long-chain fatty acids to human serum albumin has been examined using monooleoylglycerol as the ligand. Binding was investigated using changes in tryptophan fluorescence and also the displacement of a variety of well-studied fluorescent ligands from human serum albumin (HSA). Monoo...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1998-05-01 00:00:00
abstract：:Hyperlipidemia is a risk factor for development and progression of diabetic nephropathy. However, it is not known if reduction of hyperlipidemia is protective against progression of disease. The goal of this study was to determine if reduction of hypercholesterolemia could limit progression of diabetic nephropathy. Di...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M002972
更新日期：2010-06-01 00:00:00
abstract：:Mitochondrial cholesterol is maintained within a narrow range to regulate steroid and oxysterol synthesis and to ensure mitochondrial function. Mitochondria acquire cholesterol through several pathways from different cellular pools. Here we have characterized mitochondrial import of endosomal cholesterol using Chinese...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M029942
更新日期：2012-12-01 00:00:00
