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-8.15 not detectable in plasma. They showed steatorrhea and fatty liver. In N.L. kindred, the proband is heterozygous for a nonsense mutation in exon 26, leading to the formation of apoB-33.4. He had premature cerebrovascular disease and fatty liver; two apoB-33.4 carriers in this kindred showed only fatty liver. In B.E. kindred, the proband is heterozygous for a T-deletion in exon 26, which converts tyrosine at codon 3435 into a stop codon, resulting in apoB-75.7. The proband, a heavy alcohol drinker, had steatohepatitis, whereas his teetotaller daughter, an apoB-75.7 carrier, had no detectable fatty liver. This study suggests that: i) fatty liver invariably develops in FHBL carriers of short and medium-size truncated apoBs (< apoB-48), but its occurrence needs additional environmental factors in carriers of longer apoB forms; ii) intestinal lipid malabsorption develops only in carriers of short truncated apoBs, which are not secreted into the plasma; and iii) cerebrovascular disease due to premature atherosclerosis may occur even in FHBL subjects.
journal_name
J Lipid Resjournal_title
Journal of lipid researchauthors
Tarugi P,Lonardo A,Gabelli C,Sala F,Ballarini G,Cortella I,Previato L,Bertolini S,Cordera R,Calandra Skeywords:
subject
Has Abstractpub_date
2001-10-01 00:00:00pages
1552-61issue
10eissn
0022-2275issn
1539-7262journal_volume
42pub_type
杂志文章abstract::Bile acids play important roles in the regulation of lipid, glucose, and energy homeostasis. Recent studies suggest that glucose regulates gene transcription in the liver. The aim of this study was to investigate the potential role of glucose in regulation of bile acid synthesis in human hepatocytes. High glucose stim...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M002782
更新日期:2010-04-01 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::The basic protein protamine strongly inhibited hydrolysis of triolein emulsified with soybean phosphatidylcholine (PC) by pancreatic and carboxylester lipases; 10 micrograms/ml protamine, about 1000 times lower than the concentration of bovine serum albumin for the same effect, inhibited triolein hydrolysis completely...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1996-07-01 00:00:00
abstract::Sebaceous glands are intriguing glands that are found throughout the human body except on the palms of the hands and soles of the feet. The true function of these glands has yet to be determined, but there are several theories, including antioxidant effects, antibacterial effects, and transport of pheromones. Sebaceou...
journal_title:Journal of lipid research
pub_type: 杂志文章,评审
doi:10.1194/jlr.R700015-JLR200
更新日期:2008-02-01 00:00:00
abstract::A series of cholesterol hydroperoxides has been prepared and tested as inactivators of calmodulin. Two previously undescribed compounds, tentatively identified as 20-(R)-25-dihydroperoxy-5-cholesten-3 beta-ol and its 20-(S) isomer inactivate calmodulin with 50% loss of activity at 5-10 microM. Cholesterol derivatives ...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1991-09-01 00:00:00
abstract::Biliary lipids (bile salts, phospholipids, cholesterol, plant sterols) were determined in 89 vertebrate species (cartilaginous and bony fish, reptiles, birds, and mammals), and individual phospholipid classes were measured in 35 species. All samples contained conjugated bile salts (C(27) bile alcohol sulfates and/or N...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M500178-JLR200
更新日期:2005-10-01 00:00:00
abstract::Arterial wall lipid retention is believed to be due primarily to ionic interactions between lipoproteins and proteoglycans. Thus, oxidized low density lipoproteins (LDL), with decreased positive charge relative to native LDL, should have decreased interaction with negatively charged proteoglycans. However, oxidized LD...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:2001-05-01 00:00:00
abstract::The low density lipoprotein receptor (LDLR) regulates the plasma cholesterol level by mediating endocytosis of LDL. We established stable hamster cell lines expressing two LDLRs with distinct functional defects, i.e., endocytosis and ligand binding. In the cell line expressing only I189D h/r (human-rat chimeric) LDLR,...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1999-05-01 00:00:00
abstract::Although the synthesis pathways of intracellular triacylglycerol (TAG) species have been well elucidated, assessment of the contribution of an individual pathway to TAG pools in different mammalian organs, particularly under pathophysiological conditions, is difficult, although not impossible. Herein, we developed and...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M033837
更新日期:2013-04-01 00:00:00
abstract::To assess the possible role of altered hepatic processing of free fatty acids in dietary sucrose-induced accumulation of triglyceride in the liver and blood plasma, livers from rats fed commercial laboratory stock and high sucrose diets were perfused both with and without oleic acid substrate. Consumption of the sucro...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1987-10-01 00:00:00
abstract::Lysophospholipid acyltransferases (LPATs) incorporate fatty acyl chains into phospholipids via a CoA-dependent mechanism and are important in remodeling phospholipids to generate the molecular species of phospholipids found in cells. These enzymes use one lysophospholipid and one acyl-CoA ester as substrates. Traditio...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.D044636
更新日期:2014-04-01 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::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::A positive effect of all-trans retinoic acid (ATRA) on white adipose tissue (WAT) oxidative and thermogenic capacity has been described and linked to an in vivo fat-lowering effect of ATRA in mice. However, little is known about the effects of ATRA on mitochondria in white fat. Our objective has been to characterize t...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M053652
更新日期:2015-06-01 00:00:00
abstract::The regulation of hepatic and intestinal 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) reductase and acyl-CoA; cholesterol acyltransferase (ACAT) activities by dietary fish oil was examined in the rabbit. Rabbits were fed 10% menhaden oil or menhaden oil plus 1% cholesterol for 14 days. They were compared with animals fed ...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1987-01-01 00:00:00
abstract::Geranylgeranoic acid (GGA) has been reported to induce autophagic cell death via upregulation of lipid-induced unfolded protein response in several human hepatoma-derived cell lines, and its 4,5-didehydro derivative has been developed as a preventive agent against second primary hepatoma in clinical trials. We have pr...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M090548
更新日期:2019-03-01 00:00:00
abstract::After crossing floxed stearoyl-CoA desaturase-1 (Scd1fl/fl) mice with LDL receptor-null (ldlr-/-) mice, and then Villin Cre (VilCre) mice, enterocyte Scd1 expression in Scd1fl/fl/ldlr-/-/VilCre mice was reduced 70%. On Western diet (WD), Scd1fl/fl/ldlr-/- mice gained more weight than Scd1fl/fl/ldlr-/-/VilCre mice (P <...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M083527
更新日期:2018-10-01 00:00:00
abstract::Lysosomal acid lipase (LAL) is essential for the hydrolysis of triglycerides (TG) and cholesteryl esters (CE) in lysosomes. A mouse model created by gene targeting produces no LAL mRNA, protein, or enzyme activity. The lal-/- mice appear normal at birth, survive into adulthood, and are fertile. Massive storage of TG a...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:2001-04-01 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::A deficiency of lysosomal phospholipase A2 (LPLA2) causes macrophage-associated phospholipidosis, suggesting that the enzyme is important in the lipid catabolism. Because LPLA2 is secreted by macrophages, extracellular LPLA2 activity may potentially reflect a change in macrophage activation. In this report, the detect...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.D007146
更新日期:2010-08-01 00:00:00
abstract::Percent cholesterol absorption was measured in 94 normal subjects aged 17- 80 years while consuming diets generally low in cholesterol (mean intake = 226 +/- 126 mg/day). A new dual stable isotope method was used where a cholesterol tracer containing 6 extra mass units was given intravenously and another tracer with 5...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1999-02-01 00:00:00
abstract::Previous findings with various murine tumor cell lines suggest an association between ganglioside GM3 and cell cohesive properties. The influence of GM3 on cohesion was studied in two mouse brain tumor cell lines: ependymoblastoma (EPEN) and CT-2A. In culture, the EPEN cells grow as islands and contain GM3 as the only...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1997-01-01 00:00:00
abstract::The 3-methyl-branched fatty acid phytanic acid is degraded by the peroxisomal alpha-oxidation route because the 3-methyl group blocks beta-oxidation. In adult Refsum disease (ARD), peroxisomal alpha-oxidation is defective, which is caused by mutations in the gene coding for phytanoyl-CoA hydroxylase in the majority of...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M400064-JLR200
更新日期:2004-07-01 00:00:00
abstract::X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by impaired degradation of very long-chain fatty acids (VLCFAs) due to mutations in the ABCD1 gene responsible for VLCFA transport into peroxisomes. Lorenzo's oil, a 4:1 mixture of glyceryl trioleate and glyceryl trierucate, has been used to reduce...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M044586
更新日期:2014-03-01 00:00:00
abstract::The formation of cholic acid from 3alpha, 7alpha, 12alpha-trihydroxy-5beta-cholestan-26-oic acid (THCA) was studied in two normal subjects. [3H]THCA and [14C]cholic acid were administered intravenously by simultaneous injection and the specific activities (percent injected amount/mumol) of [3H]- and [14C]cholic acid w...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1977-09-01 00:00:00
abstract::Alcoholic liver disease (ALD) is the most prevalent type of chronic liver disease with significant morbidity and mortality worldwide. ALD begins with simple hepatic steatosis and progresses to alcoholic steatohepatitis, fibrosis, and cirrhosis. The severity of hepatic steatosis is highly associated with the developmen...
journal_title:Journal of lipid research
pub_type: 杂志文章,评审
doi:10.1194/jlr.R119000547
更新日期:2020-04-01 00:00:00
abstract::We investigated the formation and pharmacology of prostaglandin E(3) (PGE(3)) derived from fish oil eicosapentaenoic acid (EPA) in human lung cancer A549 cells. Exposure of A549 cells to EPA resulted in the rapid formation and export of PGE(3.) The extracellular ratio of PGE(3) to PGE(2) increased from 0.08 in control...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M300455-JLR200
更新日期:2004-06-01 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::This paper presents a case of typical hyperlipoproteinemia type I in a young woman. Her serum triglycerides varied between 2 and 90 mmol/l and she had substantial amounts of apolipoprotein B-48 in fasting plasma. She had no detectable lipoprotein lipase (LPL) activity in post-heparin plasma (less than 0.2 percent of n...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1990-07-01 00:00:00
abstract::Ceramides play an essential role in modulating immune signaling pathways and proinflammatory cytokine production in response to infectious pathogens, stress stimuli, or chemotherapeutic drugs. In this study, we demonstrated that Aggregatibacter actinomycetemcomitans, the pathogen for aggressive periodontitis, induced ...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M031427
更新日期:2013-01-01 00:00:00