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, markedly reduced HDL-cholesterol (0.1 mmol/L; < 10% of normal controls), and elevated plasma triglycerides. The presence of diabetes did not explain the lipoprotein profile, which differed markedly in comparison to two female hypertriglyceridemic diabetic subjects. Cholesterol esterification in HDL-like particles was minimal but plasma cholesterol esterification was maintained due to LCAT activity in non-HDL-containing lipoprotein fractions. DNA sequence analysis of the proband's LCAT gene showed two C to T transitions resulting in the substitution of Thr123 with Ile and Tyr144 with Cys. Allele-specific PCR amplification procedures were used to confirm the presence of the mutations in this proband and to screen for additional carriers in her family. Three first degree relatives (mother, brother, son) were heterozygous for the Thr123 --> Ile mutation and her daughter had the Tyr144 --> Cys mutation. Apart from a reduction in HDL-cholesterol levels to half the normal concentration and a 20% reduction in apoA-I levels, their plasma lipids were unremarkable. The proband's son and daughter were further investigated. Both had normal cholesterol esterification rates in plasma and VLDL/LDL-depleted plasma, but reduced LCAT activity (50% that of normal). Thus, the biochemical and phenotypic expression for fish eye disease in the heterozygote subjects was similar, irrespective of the underlying LCAT mutation.
journal_name
J Lipid Resjournal_title
Journal of lipid researchauthors
Contacos C,Sullivan DR,Rye KA,Funke H,Assmann Gsubject
Has Abstractpub_date
1996-01-01 00:00:00pages
35-44issue
1eissn
0022-2275issn
1539-7262journal_volume
37pub_type
杂志文章abstract：:3 alpha,7 alpha-dihydroxy-5 beta-cholestan-26-oic acid (DHCA) and 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestan-26-oic acid (THCA) are metabolized into chenodeoxycholic acid and cholic acid, respectively, through oxidation and cleavage of the terminal three carbons of the side chain. The present study was desig...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1980-02-01 00:00:00
abstract：:The endocannabinoid 2-arachidonoylglycerol (2-AG) is predominantly biosynthesized by sn-1-diacylglycerol lipase α (DAGL-α) in the CNS. Selective inhibitors of DAGL-α will provide valuable insights in the role of 2-AG in endocannabinoid signaling processes and are potential therapeutics for the treatment of obesity and...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.D056390
更新日期：2015-04-01 00:00:00
abstract：:Cholesterol monohydrate crystal formation was studied in supersaturated model bile solutions, containing unlabeled cholesterol, sodium cholate and soybean phosphatidylcholine, and tracer amounts of [3H]cholesterol. Solutions were either seeded with cholesterol crystals to initiate growth, or not seeded to allow self-n...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1983-07-01 00:00:00
abstract：:Familial hypobetalipoproteinemia, a syndrome associated with low plasma cholesterol levels, can be caused by apoB gene mutations. We identified a healthy 42-year-old man whose total plasma cholesterol level was 80 mg/dl. His plasma very low density lipoprotein (VLDL) contained a unique truncated apoB species, apoB-83,...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1992-04-01 00:00:00
abstract：:Tetradecylthioacetic acid (TTA), which cannot be beta-oxidized, exerts growth-limiting properties in glioma cells. In order to investigate the importance of modulated lipid metabolism and alterations in mitochondrial properties in this cell death process, we incubated glioma cells both with TTA and the oxidizable fatt...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.m200312-jlr200
更新日期：2003-01-01 00:00:00
abstract：:Absorption rates for many biologically important compounds are determined by the relative hydrophobicity of the jejunal microvillus membrane. An estimate of this parameter may be obtained by measuring the incremental change in free energy that occurs when a methylene group partitions into the bilayer form an external ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1989-08-01 00:00:00
abstract：:The early premalignant liver provides a model in which to study metabolic alterations that may be permissive for the development of full malignancy. Although there are biochemical changes in this model, there are no detectable morphological ones when compared with a normal, fully differentiated liver. The maintenance ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1990-05-01 00:00:00
abstract：:Long-chain acyl-CoA synthetases (ACSLs) catalyze the thioesterification of long-chain FAs into their acyl-CoA derivatives. Purified ACSL4 is an arachidonic acid (20:4)-preferring ACSL isoform, and ACSL4 is therefore a probable regulator of lipid mediator production in intact cells. Eicosanoids play important roles in ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M013292
更新日期：2011-04-01 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：:In humans, peroxisomes harbor a complex set of enzymes acting on various lipophilic carboxylic acids, organized in two basic pathways, alpha-oxidation and beta-oxidation; the latter pathway can also handle omega-oxidized compounds. Some oxidation products are crucial to human health (primary bile acids and polyunsatur...
journal_title：Journal of lipid research
pub_type： 杂志文章,评审
doi：10.1194/jlr.R005959
更新日期：2010-10-01 00:00:00
abstract：:Senescence-accelerated mouse-prone (SAMP1; SAMP1@Umz) is an animal model of senile amyloidosis with apolipoprotein A-II (apoA-II) amyloid fibril (AApoAII) deposits. This study was undertaken to investigate the effects of dietary fats on AApoAII deposits in SAMP1 mice when purified diets containing 4% fat as butter, sa...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M200405-JLR200
更新日期：2003-04-01 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：:HDL subspecies Lp(A-I) and Lp(A-I,A-II) have different anti-atherogenic potentials. To determine the role of lipoprotein lipase (LPL) and hepatic lipase (HL) in regulating these particles, we measured these enzyme activities in 28 healthy subjects with well-controlled Type 1 diabetes, and studied their relationship wi...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M300091-JLR200
更新日期：2003-08-01 00:00:00
abstract：:Lipoprotein lipase has been found to efficiently mediate binding of lipoproteins to cell surfaces and to the low density lipoprotein (LDL) receptor-related protein (LRP) under cell culture conditions (Beisiegel et al. 1991. Proc. Natl. Acad. Sci. USA. 88: 8242-8346). This supports the previously proposed idea that the...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1995-06-01 00:00:00
abstract：:Prostaglandin (PG)E(2) is relevant in tumor biology, and interactions between tumor and stroma cells dramatically influence tumor progression. We tested the hypothesis that cross-talk between head and neck squamous cell carcinoma (HNSCC) cells and fibroblasts could substantially enhance PGE(2) biosynthesis. We observe...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M019695
更新日期：2012-04-01 00:00:00
abstract：:In the present study, the effects of taxifolin, a plant flavonoid, on lipid, apolipoprotein B (apoB), and apolipoprotein A-I (apoA-I) synthesis and secretion were determined in HepG2 cells. Pretreatment of cells with (+/-)-taxifolin led to an inhibition of cholesterol synthesis in a dose- and time-dependent manner, wi...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：2000-12-01 00:00:00
abstract：:A strategy has been developed for archaebacterial lipid analysis which provides three times the information to describe archaebacterial isolates and is compatible with simultaneous eubacterial/eukaryotic lipid analysis of environmental samples. Eubacterial and micro-eukaryotic biomass, community structure, and nutriti...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1991-04-01 00:00:00
abstract：:In isolated fat cells, the same maximal rate of glycerol production can be induced by epinephrine or ACTH, alone or in combination with each other or with glucagon. With fat cells from rats weighing 150-175 g, the maximal rate of lipolysis attained with glucagon was 75-80% of that produced by epinephrine or ACTH, and ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1972-01-01 00:00:00
abstract：:Expression of bile salt export pump (BSEP) is regulated by the bile acid/farnesoid X receptor (FXR) signaling pathway. Two FXR isoforms, FXRα1 and FXRα2, are predominantly expressed in human liver. We previously showed that human BSEP was isoform-dependently regulated by FXR and diminished with altered expression of F...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M038323
更新日期：2013-11-01 00:00:00
abstract：:In a randomized, cross-over feeding trial involving 10 men with polygenic hypercholesterolemia, a control, Mediterranean-type cholesterol-lowering diet, and a diet of similar composition in which walnuts replaced approximately 35% of energy from unsaturated fat, were given for 6 weeks each. Compared with the control d...
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：2001-12-01 00:00:00
abstract：:This study sought to clarify the contributions of organic anion-transporting polypeptide (OATP) 1B1 and 1B3 to the liver uptake of chenodeoxycholic acid (CDCA). We synthesized a fluorescent version of CDCA, chenodeoxychilyl-(Nepsilon-NBD)-lysine (CDCA-NBD), to characterize transporter-mediated uptake. CDCA-NBD is effi...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M500532-JLR200
更新日期：2006-06-01 00:00:00
abstract：:Of the six fatty acid elongase (Elovl) subtypes expressed in mammals, adult rat liver expresses four subtypes: Elovl-5 > Elovl-1 = Elovl-2 = Elovl-6. Overnight starvation and fish oil-enriched diets repressed hepatic elongase activity in livers of adult male rats. Diet-induced changes in elongase activity correlate wi...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M400335-JLR200
更新日期：2005-04-01 00:00:00
abstract：:Due to conflicting reports concerning the relationship between phospholipid transfer protein (PLTP) activity and mass in plasma, the protein concentration and activity of PLTP were assessed in fractions isolated by fast protein liquid chromatography from the plasma of healthy normolipidemic individuals. Using both pol...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：2002-02-01 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 CYP27A gene encodes a mitochondrial cytochrome P450 enzyme, sterol 27-hydroxylase, that is expressed in many different tissues and plays an important role in cholesterol and bile acid metabolism. In humans, CYP27A deficiency leads to cerebrotendinous xanthomatosis. To gain insight into the roles of CYP27A in the r...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M400219-JLR200
更新日期：2005-01-01 00:00:00
abstract：:The lipids of rat milk, the contents of 9-- 10-day-old rat stomach and intestine, lymph, plasma, and liver were quantitated and their fatty acids were analyzed. Rat milk consists of 97% triacylglycerols, of which 35% of the fatty acids are of medium chain length (C8-C12). However, stomach triacylglycerols show a 25% r...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1981-05-01 00:00:00
abstract：:Reversed phase high pressure liquid chromatography (HPLC) solvent systems have been developed for the separation of intermediates in the formation of bile acids and bile acid conjugates from cholesterol. Four different mobile phases (water-methanol, 10 mM acetate buffer (pH 4.37)-methanol, 30 mM trifluoroacetic acid (...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1988-04-01 00:00:00
abstract：:We report the clinical phenotype in three kindreds with familial heterozygous hypobetalipoproteinemia (FHBL) carrying novel truncated apolipoprotein Bs (apoBs) of different sizes (apoB-8.15, apoB-33.4 and apoB-75.7). In D.A. kindred, we found three carriers of a C-deletion in exon 10 leading to the synthesis of apoB-8...
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 origin of arachidonic acid (AA) found in the epidermis is not known. Two possibilities exist: either de novo synthesis within the epidermal keratinocyte, or transport of AA formed at distant tissue sites. The current study examined the ability of cultured murine and human keratinocytes to metabolize exogenously ad...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1987-11-01 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
