Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis.

No abstract is available for this paper.

• Publication year

  1998

• Venue

  Journal of Lipid Research

• Publication date

  1998-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  PMID 9610773
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Down-regulation of cholesterol biosynthesis in sitosterolemia: diminished activities of acetoacetyl-CoA thiolase, 3-hydroxy-3-methylglutaryl-CoA synthase, reductase, squalene synthase, and 7-dehydrocholesterol delta7-reductase in liver and mononuclear leukocytes.

  1998cited by this paper
• The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor.

  1997cited by this paper
• Effect of micellar beta-sitosterol on cholesterol metabolism in CaCo-2 cells.

  1997cited by this paper
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  1996cited by this paper
• Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.

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• Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13.

  1995cited by this paper
• Microsomal Triglyceride Transfer Protein

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• A novel assay for cytosolic 3-hydroxy-3-methylglutaryl-coenzyme A synthase activity using reversed-phase ion-pair chromatography: demonstration that Lifibrol (K12.148) modulates the enzyme activity.

  1995cited by this paper
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  1994cited by this paper
• Phytosterolaemia in three unrelated South African families.

  1994cited by this paper
• Deficient ileal 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in sitosterolemia: sitosterol is not a feedback inhibitor of intestinal cholesterol biosynthesis.

  1994cited by this paper
• Inverse relationship between plasma cholestanol concentrations and bile acid synthesis in sitosterolemia.

  1994cited by this paper
• Localization of acyl coenzyme A:cholesterol acyltransferase gene to human chromosome 1q25

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• The molecular basis of abetalipoproteinemia.

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• The effect of increased hepatic sitosterol on the regulation of 3‐hydroxy‐3‐methylglutaryl—coenzyme a reductase and cholesterol 7α‐hydroxylase in the rat and sitosterolemic homozygotes

  1994cited by this paper
• Differential regulation of the expression of 3-hydroxy-3-methylglutaryl coenzyme A reductase, synthase, and low density lipoprotein receptor genes.

  1992influential reference
• Increased sitosterol absorption is offset by rapid elimination to prevent accumulation in heterozygotes with sitosterolemia.

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• Sitosterolemia.

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• Sluggish sitosterol turnover and hepatic failure to excrete sitosterol into bile cause expansion of body pool of sitosterol in patients with sitosterolemia and xanthomatosis.

  1991influential reference
• Single nucleotide resolution of sterol regulatory region in promoter for 3-hydroxy-3-methylglutaryl coenzyme A reductase.

  1991cited by this paper
• Regulation of cholesterol biosynthesis in sitosterolemia: effects of lovastatin, cholestyramine, and dietary sterol restriction.

  1991cited by this paper
• Decreased cholesterol biosynthesis in sitosterolemia with xanthomatosis: diminished mononuclear leukocyte 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and enzyme protein associated with increased low-density lipoprotein receptor function.

  1990cited by this paper
• Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis.

  1990cited by this paper
• Unexpected failure of bile acid malabsorption to stimulate cholesterol synthesis in sitosterolemia with xanthomatosis. Comparison with lovastatin.

  1990cited by this paper
• A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences.

  1990cited by this paper
• A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis.

  1990cited by this paper
• The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.

  1990cited by this paper
• Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis.

  1989influential reference
• The Metabolic basis of inherited disease

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• The effect of abnormal plasma and cellular sterol content and composition on low density lipoprotein uptake and degradation by monocytes and lymphocytes in sitosterolemia with xanthomatosis.

  1988cited by this paper
• Discrimination between cholesterol and sitosterol for absorption in rats.

  1988cited by this paper
• Competitive inhibition of bile acid synthesis by endogenous cholestanol and sitosterol in sitosterolemia with xanthomatosis. Effect on cholesterol 7 alpha-hydroxylase.

  1988cited by this paper
• Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis.

  1986cited by this paper
• Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia.

  1986cited by this paper
• Usefulness of gas chromatographic profiles of plasma total lipids in diagnosis of phytosterolemia.

  1986cited by this paper
• Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis.

  1985cited by this paper
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• Origin of biliary cholesterol and lecithin in the rat: contribution of new synthesis and preformed hepatic stores.

  1982cited by this paper
• The contribution of newly synthesized cholesterol to biliary cholesterol in the rat.

  1981cited by this paper
• Uptake and esterification of plant sterols by rat small intestine.

  1981cited by this paper
• Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis

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• Dried blood spot-based free sterol signatures in sitosterolemia diagnostics.

  2024cites this paper
• Association of ABCG5 and ABCG8 Transporters with Sitosterolemia.

  2024cites this paper
• Phytosterols and Cardiovascular Risk Evaluated against the Background of Phytosterolemia Cases—A German Expert Panel Statement

  2023cites this paper
• Structural analysis of cholesterol binding and sterol selectivity by ABCG5/G8

  2022cites this paper
• Case Report: Next Generation Sequencing in Clinical Practice–A Real Tool for Ending the Protracted Diagnostic Odyssey

  2022cites this paper
• Diversity of Plant Sterols Metabolism: The Impact on Human Health, Sport, and Accumulation of Contaminating Sterols

  2021cites this paper
• Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5 ABCG8

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• Recurrent tendosynovitis as a rare manifestation of a lipid disorder.

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• ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion

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• Plant-based sterols and stanols in health & disease: "Consequences of human development in a plant-based environment?"

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• Plant sterol enriched functional food and atherosclerosis

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• Plant Sterols, Stanols, and Sitosterolemia.

  2015cites this paper
• The Atherogenicity of Plant Sterols: The Evidence from Genetics to Clinical Trials.

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• Non-cholesterol sterols and cholesterol metabolism in sitosterolemia.

  2013cites this paper
• Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia.

  2013cites this paper
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• Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children

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• Effects of yoghurt enriched with free plant sterols on the levels of serum lipids and plant sterols in moderately hypercholesterolaemic subjects on a high-fat diet

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• UvA-DARE ( Digital Academic Repository ) A mouse model of sitosterolemia : absence of Abcg 8 / sterolin-2 results in failure to secrete biliary cholesterol

  2004cites this paper
• Ezetimibe Effectively Reduces Plasma Plant Sterols in Patients With Sitosterolemia

  2004cites this paper
• The ins and outs of reverse cholesterol transport

  2004cites this paper
• Phenotypic heterogeneity of sitosterolemia Published, JLR Papers in Press, September 16, 2004. DOI 10.1194/jlr.M400310-JLR200

  2004cites this paper
• Elevated plasma cholesterol concentrations comprise a major risk factor for development of atherosclerosis and cardiovascular disease remaining the leading cause of morbidity and mortality

  2004cites this paper
• A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol

  2004cites this paper
• Effects of Phytosterol Ester-Enriched Vegetable Oil on Serum Cholesterol and Assessment of Safety in Healthy Men

  2003cites this paper
• Sitosterolemia: a gateway to new knowledge about cholesterol metabolism

  2003cites this paper
• A general class of association tests for family‐based data using weight functions

  2003cites this paper
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  2002cites this paper
• Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.

  2002cites this paper
• Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

  2001influential citation
• Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities

  2001cites this paper
• High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus

  2001cites this paper
• Lipid responses to plant-sterol-enriched reduced-fat spreads incorporated into a National Cholesterol Education Program Step I diet.

  2001cites this paper
• Genetic analysis of phytosterolaemia

  2001cites this paper
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  2001cites this paper
• Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees.

  2001influential citation
• Safety and Tolerability of Esterified Phytosterols Administered in Reduced-Fat Spread and Salad Dressing to Healthy Adult Men and Women

  2001cites this paper
• Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption

  2001cites this paper
• Macrophage 3-hydroxy-3-methylglutaryl coenzyme a reductase activity in sitosterolemia: effects of increased cellular cholesterol and sitosterol concentrations.

  2001cites this paper
• Hyperabsorption and retention of campestanol in a sitosterolemic homozygote: comparison with her mother and three control subjects.

  2000cites this paper
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  2000cites this paper
• Japanese sisters associated with pseudohomozygous familial hypercholesterolemia and sitosterolemia.

  2000cites this paper
• 3-Hydroxy-3-methylglutaryl-coenzyme A reductase activity is inhibited by cholesterol and up-regulated by sitosterol in sitosterolemic fibroblasts.

  2000cites this paper
• Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21.

  1998influential citation