Abstract：
:We report the characterization of eight mutations of sterol 27-hydroxylase gene (CYP27) in five Italian patients with cerebrotendinous xanthomatosis, who were found to be compound heterozygotes. Four mutations (C --> T at nt 45 of exon 4, G(+1) --> A in intron 6, G(+5) --> T in intron 7, and G(-1) --> A in intron 7) are novel. The C --> T at nt 45 of exon 4 converts the arginine codon into a stop codon thus generating a truncated protein of 198 amino acids. The three splice site mutations reduced the content of CYP27 mRNA in skin fibroblasts to very low or undetectable levels and generated minute amounts of abnormal mRNAs. The G(+1) --> A transition in intron 6 produced three abnormal mRNAs. In the first, the 5' half of exon 6 joins to exon 7, skipping 89 bp of exon 6, and in the second, exon 5 joins directly to exon 7. The predicted translation products of these mRNAs are truncated proteins. In the third abnormal mRNA, exon 5 joins to exon 8 with an in-frame deletion of 246 bp. The G(+5) --> T transversion in intron 7 generates a single abnormal mRNA in which exon 6 joins directly to exon 8, with a frameshift and a premature stop codon. In the G(-1) --> A transition in intron 7, two mRNAs are generated. In the first, the retention of the whole intron 7 causes a frameshift and a premature stop codon; in the second, the joining of exon 7 to exon 8 is associated with an in-frame deletion of the first 6 nucleotides. All these novel mutations are predicted to produce structurally abnormal enzymatic proteins with no measurable biological activity.
journal_name
J Lipid Resjournal_title
Journal of lipid researchauthors
Garuti R,Croce MA,Tiozzo R,Dotti MT,Federico A,Bertolini S,Calandra Ssubject
Has Abstractpub_date
1997-11-01 00:00:00pages
2322-34issue
11eissn
0022-2275issn
1539-7262journal_volume
38pub_type
杂志文章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：:Ursodeoxycholic acid (UDCA, ursodiol) is used to prevent damage to the liver in patients with primary biliary cirrhosis. The drug also prevents the progression of colorectal cancer and the recurrence of high-grade colonic dysplasia. However, the molecular mechanism by which UDCA elicits its beneficial effects is not e...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M021733
更新日期：2012-04-01 00:00:00
abstract：:Apolipoprotein C-II (apoC-II) plays a critical role in the metabolism of plasma lipoproteins as an activator for lipoprotein lipase. Human apoC-II consists of 79 amino acid residues (pro-apoC-II). A minor fraction is converted to a mature form by cleavage at the site QQDE releasing the 6 amino-terminal residues. We ha...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1991-11-01 00:00:00
abstract：:To determine the extent and microanatomical distribution of extramyocellular adipocytes associated with skeletal muscle, histological, biochemical, nuclear magnetic resonance proton spectroscopic and microcomputed tomography techniques were employed to analyze skeletal muscle samples from lean and obese Sprague-Dawley...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：2001-07-01 00:00:00
abstract：:Wax esters are neutral lipids exhibiting desirable properties for lubrication. Natural sources have traditionally been whales. Additionally some plants produce wax esters in their seed oil. Currently there is no biological source available for long chain length monounsaturated wax esters that are most suited for indus...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M029512
更新日期：2012-10-01 00:00:00
abstract：:The conversion of alpha-linolenate (18:3n-3) to docosahexaenoate (22:6n-3) in the presence of low and high dietary levels of linoleate (18:2n-6) is reported in young rats using [U-13C]-alpha-linolenic acid (18:2n-3*) and high precision gas chromatography-combustion isotope ratio mass spectrometry (GCC-IRMS). After con...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1995-05-01 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：:Lipoprotein metabolism can be studied by the analysis of lipoprotein production in cell culture. An inherent problem in such an analysis is the low concentration of lipoproteins in culture supernatants. The difficulty comes from the fact that the samples must be concentrated prior to any analysis. The concentrating me...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1995-10-01 00:00:00
abstract：:Murine strains susceptible to atherosclerosis provide valuable models to study factors involved in atherogenesis. In some murine models, limited hypercholesterolemia can be achieved and lesions develop primarily in the aortic origin, in the vicinity of the aortic valve. In other models such as LDL receptor-deficient a...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1995-11-01 00:00:00
abstract：:Functions of the gut microbiome have a growing number of implications for host metabolic health, with diet being one of the most significant influences on microbiome composition. Compelling links between diet and the gut microbiome suggest key roles for various macronutrients, including lipids, yet how individual clas...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.RA120000950
更新日期：2020-07-09 00:00:00
abstract：:Ceramides containing phytosphingosine as base and one of the fatty acids 16:0, 18:0, 20:0, 22:0, 23:0, and 24:0, were prepared by direct coupling in the presence of a mixed carbodiimide. The ceramides were analyzed as the 1,3,4-tri-O-trimethylsilyl ether derivatives by gas-liquid chromatography-mass spectrometry. Gas ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1970-05-01 00:00:00
abstract：:Incubation of low density lipoprotein (LDL) with endothelial cells converts it to a form that is avidly degraded by macrophages via the acetyl LDL receptor. This modification has previously been shown to be accompanied by extensive breakdown of the major LDL protein (apoB-100) to smaller peptides. ApoB-100 is known to...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1987-12-01 00:00:00
abstract：:Dysregulation of nuclear envelope (NE) assembly results in various cancers; for example, renal and some lung carcinomas ensue due to NE malformation. The NE is a dynamic membrane compartment and its completion during mitosis is a highly regulated process, but the detailed mechanism still remains incompletely understoo...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M083899
更新日期：2018-08-01 00:00:00
abstract：:An online, two-dimensional (2D) liquid chromatography (LC) quadrupole time-of-flight mass spectrometry (QToF-MS) method was developed for lipid profiling of rat peritoneal surface layers, in which the lipid classes and species could be simultaneously separated in one injection with a significantly increased sensitivit...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.D007567
更新日期：2010-09-01 00:00:00
abstract：:Neu-Laxova syndrome (NLS) is a very rare autosomal recessive congenital disorder characterized by disturbed development of the central nervous system and the skin and caused by mutations in any of the three genes involved in de novo l-serine biosynthesis: PHGDH, PSAT1, and PSPH l-Serine is essential for the biosynthes...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.P087536
更新日期：2018-12-01 00:00:00
abstract：:The extent of hypercholesterolemia varies considerably in patients with familial hypercholesterolemia (FH). We hypothesized that the variability of the FH phenotype might be partly explained by variation in proprotein convertase subtilisin kexin type 9 (PCSK9) activity. Individuals between 18 and 53 years of age who h...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.P023994
更新日期：2012-05-01 00:00:00
abstract：:We have developed a simplified and improved high performance liquid chromatography (HPLC) method for the detection and quantitation of tissue lipid using a new laser light-scattering detector (Varex model ELSD II). This detector has a limit of sensitivity of 50 ng for neutral lipid and 200 ng for most phospholipids wi...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1990-11-01 00:00:00
abstract：:Nucleoredoxin (NRX) is a member of the thioredoxin family of proteins that controls redox homeostasis in cell. Redox homeostasis is a well-known regulator of cell differentiation into various tissue types. We found that NRX expression levels were higher in white adipose tissue of obese ob/ob mice and increased in the ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M054056
更新日期：2015-02-01 00:00:00
abstract：:This report describes the gas-liquid chromatography-mass spectrometry (GLC-MS) of the trimethylsilyl ethers of 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha-triol with mono- or dihydroxy substitution in the side chain. Compounds with 24- and 25-unsaturation in the side chain were also studied. The gas-liquid chromatogr...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1978-11-01 00:00:00
abstract：:The objective of this study was to investigate the mobilization of individual fatty acids from human subcutaneous adipose tissue in vivo. Concentrations of individual non-esterified fatty acids were measured in arterialized plasma and in the venous drainage from subcutaneous abdominal adipose tissue in eight normal su...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1996-09-01 00:00:00
abstract：:Conventional ideas concerning the unidirectional movement of triacylglycerol from intestinal lumen to lymph with sn-2-monoacylglycerol being the major glyceride-glycerol precursor were challenged by our finding that steady state specific activities of radiolabeled triacylglycerol (glyceryl moiety) in the intestinal mu...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1982-09-01 00:00:00
abstract：:Recombinant human pancreatic lipase-related protein 2 (rHPLRP2) was produced in the protease A-deficient yeast Pichia pastoris. A major protein with a molecular mass of 50 kDa was purified from the culture medium using SP-Sepharose and Mono Q chromatography. The protein was found to be highly sensitive to the proteoly...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M600486-JLR200
更新日期：2007-07-01 00:00:00
abstract：:Baboons possess Lp[a] that is similar to human Lp[a], including the presence of the unique protein, apo[a]. Baboon apo[a] occurred in at least nine isoforms distinguishable by size. Isoforms were resolved by 3-12% polyacrylamide gradient gel electrophoretic separation of serum proteins, and were detected with baboon a...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1989-04-01 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：:The polyene antibiotic amphotericin B (AMB) is an effective antifungal agent whose therapeutic potential is limited by poor aqueous solubility and toxicity toward host tissues. Addition of apolipoprotein A-I to a multilamellar phospholipid vesicle dispersion containing 20% (w/w) AMB induces the formation of reconstitu...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.D500033-JLR200
更新日期：2006-02-01 00:00:00
abstract：:Lipid transfer inhibitor protein (LTIP) is a regulator of cholesteryl ester transfer protein (CETP) function. Factors affecting plasma LTIP levels are poorly understood. In humans, plasma LTIP is elevated in hypercholesterolemia. To define possible mechanisms by which hyperlipidemia modifies LTIP, we investigated the ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M800429-JLR200
更新日期：2009-04-01 00:00:00
abstract：:Recent findings described the role of CD36-mediated signaling in regulating cellular calcium and the release of various bioactive molecules, including the prostaglandins, neurotransmitters, cholecystokinin, and secretin. Here we document the role of CD36 in the secretion of hepatic VLDL. CD36 deletion resulted in 60% ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M037812
更新日期：2013-11-01 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 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：:Polymorphic transformations in two saturated-unsaturated mixed acid triacylglycerols, SOS (sn -1,3-distearoyl-2-oleoylglycerol) and OSO (sn -1,3-dioleoyl-2-stearoylglycerol), have been studied by FT-IR spectroscopy using deuterated specimens in which stearoyl chains are fully deuterated. A reversible phase transition ...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1999-01-01 00:00:00
