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, in addition to the normal B apolipoproteins, apoB-100 and apoB-48. Virtually no apoB-83 was detectable in his low density lipoprotein (LDL). From the subject's kindred, we identified nine other hypocholesterolemic subjects whose VLDL contained apoB-83. A tendency for cholelithiasis was noted in the apoB-83 heterozygotes, particularly in the older individuals. From the apparent size of apoB-83 on SDS-polyacrylamide gels and its reactivity with apoB-specific monoclonal antibodies, we estimated that it would contain approximately 3700-3800 amino acids. DNA sequencing of apoB genomic clones from two affected individuals revealed that apoB-83 was caused by a C----A transversion in exon 26 of the apoB gene (apoB cDNA nucleotide 11458). This mutation converts Ser-3750 (TCA) into a premature stop codon (TAA) and creates a unique MseI restriction endonuclease site. Thus, a single nucleotide transversion in the apoB gene results in a unique truncated apoB species, apoB-83, and the clinical syndrome of familial hypobetalipoproteinemia.
journal_name
J Lipid Resjournal_title
Journal of lipid researchauthors
Farese RV Jr,Garg A,Pierotti VR,Vega GL,Young SGkeywords:
subject
Has Abstractpub_date
1992-04-01 00:00:00pages
569-77issue
4eissn
0022-2275issn
1539-7262journal_volume
33pub_type
杂志文章abstract：:To assess the relationship between cholesterol synthesis and feedback inhibition of bile acid synthesis, we studied seven normal human subjects taking three different doses of chenodiol, 0, 5, and 15 mg/kg per day: once while taking no lovastatin and again while taking lovastatin 80 mg/day. Lovastatin and both doses o...
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：1994-08-01 00:00:00
abstract：:A gas-liquid chromatography-flame ionization detection method is described for measuring plasma levels of eicosatetraynoic acid using eicosatriynoic acid as an internal standard. The technique is simple, rapid, and reproducible. Eicosatetraynoic acid and eicosatriynoic acid behave similarly in the extraction system ch...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1981-03-01 00:00:00
abstract：:The chemical and biochemical properties of cholesterol-enriched and cholesterol-poor chylomicrons from rat lymph have been compared. The enriched particles, prepared from cholesterol-containing lipid dispersions, passed into the duodenum, had four to ten times the cholesteryl ester content of the control chylomicrons ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1978-08-01 00:00:00
abstract：:Apolipoprotein E (apoE) polymorphism is a genetic determinant of plasma lipid levels and of coronary heart disease (CHD) risk. We determined the apoE phenotypes and plasma lipid levels in 1577 youths aged 3 to 18 years in 1980. The subjects were randomly selected from five areas of Finland. ApoE phenotyping was perfor...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1990-03-01 00:00:00
abstract：:Several different processes involved in the metabolic fate of docosahexaenoic acid (DHA, C22:6n-3) and its precursor in the biosynthesis route, C24:6n-3, were studied. In cultured skin fibroblasts, the oxidation rate of [1-14C] 24:6n-3 was 2.7 times higher than for [1-14C]22:6n-3, whereas [1-14C]22:6n-3 was incorporat...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M300223-JLR200
更新日期：2003-10-01 00:00:00
abstract：:Dihydroxyacetone phosphate acyl transferase (DHAP-AT), alkyl dihydroxyacetone phosphate synthase (alkyl-DHAP-synthase), and glycerol-3-phosphate acyltransferase (GPAT) activities were investigated under optimal assay conditions using highly purified organelle preparations. The data presented clearly indicate that GPAT...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1993-03-01 00:00:00
abstract：:Previous studies from our laboratory indicated that pre-germinated brown rice (PR) contained certain unknown bioactive lipids that activated two enzymes related to diabetes: Na+/K+ATPase and homocysteine-thiolactonase. In this paper, we report on the isolation and structural characterization of the activator lipids fr...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M800257-JLR200
更新日期：2008-10-01 00:00:00
abstract：:The Niemann-Pick C1 (NPC1) protein regulates cholesterol transport from late endosomes-lysosomes to other intracellular compartments. In this article, cholesterol transport to caveolin-1 and caveolin-2 containing compartments, such as the trans-Golgi network (TGN) and plasma membrane caveolae, was examined in normal (...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：2002-04-01 00:00:00
abstract：:Mixed background SHP(-/-) mice are resistant to diet-induced obesity due to increased energy expenditure caused by enhanced PGC-1α expression in brown adipocytes. However, congenic SHP(-/-) mice on the C57BL/6 background showed normal expression of PGC-1α and other genes involved in brown adipose tissue thermogenesis....
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M016048
更新日期：2011-12-01 00:00:00
abstract：:The kinetics of lecithin exchange between native lipoproteins was characterized for individual molecular species of lecithins of rat mesenteric lymph chylomicrons and rat plasma HDL. Studies were performed in the absence of lipid transfer proteins. Donor (chylomicrons) and acceptor (HDL) particles were present in rati...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1985-11-01 00:00:00
abstract：:An elevated plasma concentration of lipoprotein (a) [Lp(a)] is an independent risk factor for cardiovascular disease. Life style modification and currently available drugs either fail to effectively lower plasma Lp(a) levels or do not result in clinical benefit. However, lipoprotein apheresis is very efficient in decr...
journal_title：Journal of lipid research
pub_type： 杂志文章,评审
doi：10.1194/jlr.R056549
更新日期：2016-10-01 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：:In an attempt to understand the applicability of various animal models to dyslipidemia in humans and to identify improved preclinical models for target discovery and validation for dyslipidemia, we measured comprehensive plasma lipid profiles in 24 models. These included five mouse strains, six other nonprimate specie...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M019927
更新日期：2012-01-01 00:00:00
abstract：:Clostridium absonum was shown to metabolize primary bile acids to give rise to both 7-oxo bile acids and 7 beta-hydroxy (urso) bile acids. At relatively low redox potential (Eh) values, high yields of urso bile acids were achieved (60-75%). If, however, the Eh value of the culture was allowed to rise above approximate...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1982-07-01 00:00:00
abstract：:The aim of this study was to investigate the extent to which inflammation is linked with plasma endothelial lipase (EL) concentrations among healthy sedentary men. Plasma C-reactive protein (CRP) concentrations were measured with a highly sensitive commercial immunoassay, plasma interleukin-6 (IL-6) concentrations wer...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.P600002-JLR200
更新日期：2006-12-01 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：:Phytanoyl-CoA hydroxylase (PhyH) catalyzes the conversion of phytanoyl-CoA to 2-hydroxyphytanoyl-CoA, which is the first step in the phytanic acid alpha-oxidation pathway. Recently, several studies have shown that in humans, phytanic acid alpha-oxidation is localized in peroxisomes. In rat, however, the alpha-oxidatio...
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 accurate quantitation of high density lipoproteins has recently assumed greater importance in view of studies suggesting their negative correlation with coronary heart disease. High density lipoproteins may be estimated by measuring cholesterol in the plasma fraction of d > 1.063 g/ml. A more practical approach is...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1978-01-01 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：:Several studies indicate that cholesterol esterification is deregulated in cancers. The present study aimed to characterize the role of cholesterol esterification in proliferation and invasion of two tumor cells expressing an activated cholecystokinin 2 receptor (CCK2R). A significant increase in cholesterol esterific...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M800668-JLR200
更新日期：2009-11-01 00:00:00
abstract：:Previous studies have shown that antibodies to cubulin, a receptor on the yolk sac that binds high density lipoproteins (HDL) and cobalamin, induce fetal abnormalities. Mice with markedly low concentrations of plasma HDL-cholesterol (HDL-C) give birth to healthy pups, however. To establish whether maternal HDL-C has a...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：2000-03-01 00:00:00
abstract：:We have performed plasma lipid profiling using liquid chromatography electrospray ionization tandem mass spectrometry on a population cohort of more than 1,000 individuals. From 10 μl of plasma we were able to acquire comparative measures of 312 lipids across 23 lipid classes and subclasses including sphingolipids, ph...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.P035808
更新日期：2013-10-01 00:00:00
abstract：:Lipogenesis in vitro from acetate-1-(14)C was studied in human preputial skin and abdominal skin. Radioactive lipids were separated by column chromatography on Florisil and by thin-layer chromatography on silica gel. Radioactivity was incorporated chiefly into the triglyceride, sterol, and polar lipid fractions, while...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1969-09-01 00:00:00
abstract：:Gap junctions of rat brown adipose tissue (BAT) were studied with the freeze-fracture technique during development. The frequency and the mean area of gap junctions increased after birth, reached a maximal development during the functional phase of the tissue (birth to 3--4 weeks) and decreased while brown adipose tis...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1980-07-01 00:00:00
abstract：:Synthesis of apolipoprotein (apo)E in hepatocytes leads to both secretion and retention in cell surface pools. Inclusion of Brefeldin A to HepG2 cells prompted a rapid decrease of cell surface apoE to about 37% of control values after a 3-h incubation. The t(1/2) for this dynamic pool was estimated to be 15 min. In co...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：2001-09-01 00:00:00
abstract：:The content of serum gangliosides was examined in VM and C57BL/6J (B6) mice that contained subcutaneous metastatic (VM) and non-metastatic (CT-2A) brain tumors, respectively. Gas-liquid chromatography (GLC) and high performance thin-layer chromatography (HPTLC) were used to analyze the serum gangliosides. N-glycolylne...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1994-01-01 00:00:00
abstract：:Although numerous studies have investigated the relationship between cholesteryl ester transfer protein (CETP) and high density lipoprotein (HDL) remodeling, the relationship between CETP and low density lipoproteins (LDL) is still not fully understood. In the present study, we examined the effect of the inhibition of...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：2000-01-01 00:00:00
abstract：:Conditions leading to oxidation of LDL in vivo are still unknown. While the occurrence of oxidized lipoproteins and catalytic free iron in advanced atherosclerotic lesions has been demonstrated, the origin of both is unclear. In vivo, iron metabolism is tightly regulated by iron-binding proteins that ensure that virtu...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1999-07-01 00:00:00
abstract：:This study examined the in vivo relationship between expression of the HDL receptor scavenger receptor class B (SR-BI) and corresponding structural changes in the rat adrenocortical cell microvillar compartment. Using hormonal stimulation and withdrawal protocols, we were able to manipulate adrenal SR-BI levels and ca...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：2002-06-01 00:00:00
abstract：:Analyses have been made of glycosphingolipids from visceral organs and brain of a patient with an unusual lipid storage disorder diagnosed initially as classical Tay-Sachs disease. Levels of the lipids from fresh-frozen sections of gray and white matter, kidney, spleen, liver, and heart from this patient were compared...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1972-01-01 00:00:00
