메뉴 건너뛰기




Volumn 39, Issue 5, 1998, Pages 1055-1061

Sitosterolemia: Exclusion of genes involved in reduced cholesterol biosynthesis

Author keywords

Cholesterol biosynthesis; Gene exclusion; Genetics; Sitosterolemia

Indexed keywords

CHYLOMICRON; PHYTOSTEROL; PROTEIN; TRIACYLGLYCEROL;

EID: 0031895065     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (49)

References (48)
  • 1
    • 0016366624 scopus 로고
    • Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters
    • Bhattacharyya, A. K., and W. E. Connor. 1974. Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J. Clin. Invest. 53: 1033-1043.
    • (1974) J. Clin. Invest. , vol.53 , pp. 1033-1043
    • Bhattacharyya, A.K.1    Connor, W.E.2
  • 3
    • 0001003949 scopus 로고
    • Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol
    • C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill Inc., New York
    • Bjorkhem, I., and K. M. Boberg. 1995. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. In The Metabolic Basis of Inherited Disease. C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill Inc., New York. 2073-2102.
    • (1995) The Metabolic Basis of Inherited Disease , pp. 2073-2102
    • Bjorkhem, I.1    Boberg, K.M.2
  • 4
    • 0022486322 scopus 로고
    • Usefulness of gas chromatographic profiles of plasma total lipids in diagnosis of phytosterolemia
    • Kuksis, A., J. J. Myher, L. Marai, J. A. Little, R. G. McArthur, and D. A. Roncari. 1986. Usefulness of gas chromatographic profiles of plasma total lipids in diagnosis of phytosterolemia. J. Chromatogr. 381: 1-12.
    • (1986) J. Chromatogr. , vol.381 , pp. 1-12
    • Kuksis, A.1    Myher, J.J.2    Marai, L.3    Little, J.A.4    McArthur, R.G.5    Roncari, D.A.6
  • 7
    • 0019477113 scopus 로고
    • Uptake and esterification of plant sterols by rat small intestine
    • Bhattacharyya, A. K. 1981. Uptake and esterification of plant sterols by rat small intestine. Am. J. Physiol. 240: G50-55.
    • (1981) Am. J. Physiol. , vol.240
    • Bhattacharyya, A.K.1
  • 8
    • 0014480503 scopus 로고
    • Absorption and lymphatic transport of cholesterol and sitosterol in the rat
    • Sylven, C., and B. Borgstrom. 1969. Absorption and lymphatic transport of cholesterol and sitosterol in the rat. J. Lipid Res. 10: 179-182.
    • (1969) J. Lipid Res. , vol.10 , pp. 179-182
    • Sylven, C.1    Borgstrom, B.2
  • 9
    • 0001297576 scopus 로고
    • Intestinal lipid absorption
    • L. R. Johnson, editor. Raven Press, New York
    • Tso, P. 1994. Intestinal lipid absorption. In Physiology of the Gasterointestinal Tract. L. R. Johnson, editor. Raven Press, New York. 1867-1907.
    • (1994) Physiology of the Gasterointestinal Tract , pp. 1867-1907
    • Tso, P.1
  • 10
    • 0024264706 scopus 로고
    • Discrimination between cholesterol and sitosterol for absorption in rats
    • Ikeda, I., K. Tanaka, M. Sugano, G. V. Vahouny, and L. L. Gallo. 1988. Discrimination between cholesterol and sitosterol for absorption in rats. J. Lipid Res. 29: 1583-1591.
    • (1988) J. Lipid Res. , vol.29 , pp. 1583-1591
    • Ikeda, I.1    Tanaka, K.2    Sugano, M.3    Vahouny, G.V.4    Gallo, L.L.5
  • 11
    • 0019900761 scopus 로고
    • Origin of biliary cholesterol and lecithin in the rat: Contribution of new synthesis and preformed hepatic stores
    • Robins, S. J., and H. Brunengraber. 1982. Origin of biliary cholesterol and lecithin in the rat: contribution of new synthesis and preformed hepatic stores. J. Lipid Res. 23: 604-608.
    • (1982) J. Lipid Res. , vol.23 , pp. 604-608
    • Robins, S.J.1    Brunengraber, H.2
  • 12
    • 0019430146 scopus 로고
    • The contribution of newly synthesized cholesterol to biliary cholesterol in the rat
    • Turley, S. D., and J. M. Dietschy. 1981. The contribution of newly synthesized cholesterol to biliary cholesterol in the rat. J. Biol. Chem. 256: 2438-2446.
    • (1981) J. Biol. Chem. , vol.256 , pp. 2438-2446
    • Turley, S.D.1    Dietschy, J.M.2
  • 13
    • 0025912236 scopus 로고
    • Sluggish sitosterol turnover and hepatic failure to excrete sitosterol into bile cause expansion of body pool of sitosterol in patients with sitosterolemia and xanthomatosis
    • Bhattacharyya, A. K., W. E. Connor, D. S. Lin, M. M. McMurry, and R. S. Shulman. 1991. Sluggish sitosterol turnover and hepatic failure to excrete sitosterol into bile cause expansion of body pool of sitosterol in patients with sitosterolemia and xanthomatosis. Arterioscler. Thromb. 11: 1287-1294.
    • (1991) Arterioscler. Thromb. , vol.11 , pp. 1287-1294
    • Bhattacharyya, A.K.1    Connor, W.E.2    Lin, D.S.3    McMurry, M.M.4    Shulman, R.S.5
  • 15
    • 0022529021 scopus 로고
    • Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis
    • Gregg, R. E., W. E. Connor, D. S. Lin, and H. B. Brewer, Jr. 1986. Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis. J. Clin. Invest. 77: 1864-1872.
    • (1986) J. Clin. Invest. , vol.77 , pp. 1864-1872
    • Gregg, R.E.1    Connor, W.E.2    Lin, D.S.3    Brewer Jr., H.B.4
  • 16
    • 0026766590 scopus 로고
    • Increased sitosterol absorption is offset by rapid elimination to prevent accumulation in heterozygotes with sitosterolemia
    • Salen, G., G. S. Tint, S. Shefer, V. Shore, and L. Nguyen. 1992. Increased sitosterol absorption is offset by rapid elimination to prevent accumulation in heterozygotes with sitosterolemia. Arterioscler. Thromb. 12: 563-568.
    • (1992) Arterioscler. Thromb. , vol.12 , pp. 563-568
    • Salen, G.1    Tint, G.S.2    Shefer, S.3    Shore, V.4    Nguyen, L.5
  • 17
    • 0023887374 scopus 로고
    • 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
    • Nguyen, L. B., S. Shefer, G. Salen, I. Horak, G. S. Tint, and D. J. McNamara. 1988. 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. Metabolism. 37: 346-351.
    • (1988) Metabolism , vol.37 , pp. 346-351
    • Nguyen, L.B.1    Shefer, S.2    Salen, G.3    Horak, I.4    Tint, G.S.5    McNamara, D.J.6
  • 18
    • 0025132445 scopus 로고
    • A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis
    • Nguyen, L. B., S. Shefer, G. Salen, G. C. Ness, G. S. Tint, F. G. Zaki, and I. Rani. 1990. A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. J. Clin. Invest. 86: 923-931.
    • (1990) J. Clin. Invest. , vol.86 , pp. 923-931
    • Nguyen, L.B.1    Shefer, S.2    Salen, G.3    Ness, G.C.4    Tint, G.S.5    Zaki, F.G.6    Rani, I.7
  • 19
    • 0025259539 scopus 로고
    • 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
    • Nguyen, L. B., G. Salen, S. Shefer, G. S. Tint, V. Shore, and G. C. Ness. 1990. 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. Metabolism. 39: 436-443.
    • (1990) Metabolism , vol.39 , pp. 436-443
    • Nguyen, L.B.1    Salen, G.2    Shefer, S.3    Tint, G.S.4    Shore, V.5    Ness, G.C.6
  • 20
    • 0026349380 scopus 로고
    • Regulation of cholesterol biosynthesis in sitosterolemia: Effects of lovastatin, cholestyramine, and dietary sterol restriction
    • Nguyen, L. B., M. Cobb, S. Shefer, G. Salen, G. C. Ness, and G. S. Tint. 1991. Regulation of cholesterol biosynthesis in sitosterolemia: effects of lovastatin, cholestyramine, and dietary sterol restriction. J. Lipid Res. 32: 1941-1948.
    • (1991) J. Lipid Res. , vol.32 , pp. 1941-1948
    • Nguyen, L.B.1    Cobb, M.2    Shefer, S.3    Salen, G.4    Ness, G.C.5    Tint, G.S.6
  • 21
    • 0028233729 scopus 로고
    • Deficient ileal 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in sitosterolemia: Sitosterol is not a feedback inhibitor of intestinal cholesterol biosynthesis
    • Nguyen, L. B., G. Salen, S. Shefer, J. Bullock, T. Chen, G. S. Tint, I. R. Chowdhary, and S. Lerner. 1994. Deficient ileal 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in sitosterolemia: sitosterol is not a feedback inhibitor of intestinal cholesterol biosynthesis. Metabolism. 43: 855-859.
    • (1994) Metabolism , vol.43 , pp. 855-859
    • Nguyen, L.B.1    Salen, G.2    Shefer, S.3    Bullock, J.4    Chen, T.5    Tint, G.S.6    Chowdhary, I.R.7    Lerner, S.8
  • 23
    • 0028200779 scopus 로고
    • 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
    • Shefer, S., G. Salen, J. Bullock, L. B. Nguyen, G. C. Ness, Z. Vhao, P. F. Belamarich, I. Chowdhary, S. Lerner, A. K. Batta, and G. S. Tint. 1994. 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, Hepatology. 20: 213-219.
    • (1994) Hepatology , vol.20 , pp. 213-219
    • Shefer, S.1    Salen, G.2    Bullock, J.3    Nguyen, L.B.4    Ness, G.C.5    Vhao, Z.6    Belamarich, P.F.7    Chowdhary, I.8    Lerner, S.9    Batta, A.K.10    Tint, G.S.11
  • 24
    • 0030993910 scopus 로고    scopus 로고
    • Effect of micellar beta-sitosterol on cholesterol metabolism in CaCo-2 cells
    • Field, F. J., E. Born, and S. N. Mathur. 1997. Effect of micellar beta-sitosterol on cholesterol metabolism in CaCo-2 cells. J. Lipid Res. 38: 348-360.
    • (1997) J. Lipid Res. , vol.38 , pp. 348-360
    • Field, F.J.1    Born, E.2    Mathur, S.N.3
  • 25
    • 0024269775 scopus 로고
    • Competitive inhibition of bile acid synthesis by endogenous cholestanol and sitosterol in sitosterolemia with xanthomatosis. Effect on cholesterol 7α-hydroxylase
    • Shefer, S., G. Salen, L. Nguyen, A. K. Batta, V. Packin, G. S. Tint, and S. Hauser. 1988. Competitive inhibition of bile acid synthesis by endogenous cholestanol and sitosterol in sitosterolemia with xanthomatosis. Effect on cholesterol 7α-hydroxylase. J. Clin. Invest. 82: 1833-1839.
    • (1988) J. Clin. Invest. , vol.82 , pp. 1833-1839
    • Shefer, S.1    Salen, G.2    Nguyen, L.3    Batta, A.K.4    Packin, V.5    Tint, G.S.6    Hauser, S.7
  • 26
    • 0028021084 scopus 로고
    • Inverse relationship between plasma cholestanol concentrations and bile acid synthesis in sitosterolemia
    • Salen, G., A. K. Batta, G. S. Tint, S. Shefer, and G. C. Ness. 1994. Inverse relationship between plasma cholestanol concentrations and bile acid synthesis in sitosterolemia. J. Lipid Res. 35: 1878-1887.
    • (1994) J. Lipid Res. , vol.35 , pp. 1878-1887
    • Salen, G.1    Batta, A.K.2    Tint, G.S.3    Shefer, S.4    Ness, G.C.5
  • 27
    • 0026675646 scopus 로고
    • Differential regulation of the expression of 3-hydroxy-3-methylglutaryl coenzyme A reductase, synthase, and low density lipoprotein receptor genes
    • Cuthbert, J. A., and P. E. Lipsky. 1992. Differential regulation of the expression of 3-hydroxy-3-methylglutaryl coenzyme A reductase, synthase, and low density lipoprotein receptor genes. J. Lipid Res. 33: 1157-1163.
    • (1992) J. Lipid Res. , vol.33 , pp. 1157-1163
    • Cuthbert, J.A.1    Lipsky, P.E.2
  • 28
    • 0029113729 scopus 로고
    • Discordant regulation of proteins of cholesterol metabolism during the acute phase response
    • Feingold, K. R., A. S. Pollock, A. H. Moser, J. K. Shigenaga, and C. Grunfeld. 1995. Discordant regulation of proteins of cholesterol metabolism during the acute phase response. J. Lipid Res. 36: 1474-1482.
    • (1995) J. Lipid Res. , vol.36 , pp. 1474-1482
    • Feingold, K.R.1    Pollock, A.S.2    Moser, A.H.3    Shigenaga, J.K.4    Grunfeld, C.5
  • 29
    • 0025739267 scopus 로고
    • Single nucleotide resolution of sterol regulatory region in promoter for 3-hydroxy-3-methylglutaryl coenzyme A reductase
    • Osborne, T. F. 1991. Single nucleotide resolution of sterol regulatory region in promoter for 3-hydroxy-3-methylglutaryl coenzyme A reductase. J. Biol. Chem. 266: 13947-13951.
    • (1991) J. Biol. Chem. , vol.266 , pp. 13947-13951
    • Osborne, T.F.1
  • 32
    • 0030941803 scopus 로고    scopus 로고
    • The SREBP pathway: Regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor
    • Brown, M. S., and J. L. Goldstein. 1997. The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor. Cell. 89: 331-340.
    • (1997) Cell , vol.89 , pp. 331-340
    • Brown, M.S.1    Goldstein, J.L.2
  • 33
    • 0018841909 scopus 로고
    • Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: A case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis
    • Miettinen, T. A. 1980. Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis. Eur. J. Clin. Invest. 10: 27-35.
    • (1980) Eur. J. Clin. Invest. , vol.10 , pp. 27-35
    • Miettinen, T.A.1
  • 34
    • 0022197146 scopus 로고
    • Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis
    • Salen, G., I. Horak, M. Rothkopf, J. L. Cohen, J. Speck, G. S. Tint, V. Shore, B. Dayal, T. Chen, and S. Shefer. 1985. Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis. J. Lipid Res. 26: 1126-1133.
    • (1985) J. Lipid Res. , vol.26 , pp. 1126-1133
    • Salen, G.1    Horak, I.2    Rothkopf, M.3    Cohen, J.L.4    Speck, J.5    Tint, G.S.6    Shore, V.7    Dayal, B.8    Chen, T.9    Shefer, S.10
  • 35
    • 0025366588 scopus 로고
    • Unexpected failure of bile acid malabsorption to stimulate cholesterol synthesis in sitosterolemia with xanthomatosis. Comparison with lovastatin
    • Nguyen, L., G. Salen, S. Shefer, V. Shore, G. S. Tint, and G. Ness. 1990. Unexpected failure of bile acid malabsorption to stimulate cholesterol synthesis in sitosterolemia with xanthomatosis. Comparison with lovastatin. Arteriosclerosis. 10: 289-297.
    • (1990) Arteriosclerosis , vol.10 , pp. 289-297
    • Nguyen, L.1    Salen, G.2    Shefer, S.3    Shore, V.4    Tint, G.S.5    Ness, G.6
  • 36
    • 0028123112 scopus 로고
    • Phytosterolaemia in three unrelated South African families
    • Berger, G. M., W. M. Deppe, A. D. Marais, and M. Biggs. 1994. Phytosterolaemia in three unrelated South African families. Postgrad. Med. J. 70: 631-637.
    • (1994) Postgrad. Med. J. , vol.70 , pp. 631-637
    • Berger, G.M.1    Deppe, W.M.2    Marais, A.D.3    Biggs, M.4
  • 38
    • 0016861431 scopus 로고
    • Intracellular localization of the 3-hydroxy-3-methylglutaryl co-enzyme A cycle enzymes in liver. Separate cytoplasmic and mitochondrial 3-hydroxy-3-methylglutaryl coenzyme A generating systems for cholesterogenesis and ketogenesis
    • Clinkenbeard, K. D., W. D. Reed, R. A. Mooney, and M. D. Lane. 1975. Intracellular localization of the 3-hydroxy-3-methylglutaryl co-enzyme A cycle enzymes in liver. Separate cytoplasmic and mitochondrial 3-hydroxy-3-methylglutaryl coenzyme A generating systems for cholesterogenesis and ketogenesis. J. Biol. Chem. 250: 3108-3116.
    • (1975) J. Biol. Chem. , vol.250 , pp. 3108-3116
    • Clinkenbeard, K.D.1    Reed, W.D.2    Mooney, R.A.3    Lane, M.D.4
  • 39
    • 0028963963 scopus 로고
    • 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
    • Scharnagl, H., W. Marz, M. Schliack, R. Loser, and W. Gross. 1995. 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. J. Lipid Res. 36: 622-627.
    • (1995) J. Lipid Res. , vol.36 , pp. 622-627
    • Scharnagl, H.1    Marz, W.2    Schliack, M.3    Loser, R.4    Gross, W.5
  • 40
    • 0028022939 scopus 로고
    • Human microsomal triglyceride transfer protein large subunit gene structure
    • Sharp, D., B. Ricci, B. Kienzle, M. C. Lin, and J. R. Wetterau. 1994. Human microsomal triglyceride transfer protein large subunit gene structure. Biochemistry. 33: 9057-9061.
    • (1994) Biochemistry , vol.33 , pp. 9057-9061
    • Sharp, D.1    Ricci, B.2    Kienzle, B.3    Lin, M.C.4    Wetterau, J.R.5
  • 41
    • 0025286621 scopus 로고
    • A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences
    • Zuliani, G., and H. H. Hobbs. 1990. A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences. Am. J. Hum. Genet. 46: 963-969.
    • (1990) Am. J. Hum. Genet. , vol.46 , pp. 963-969
    • Zuliani, G.1    Hobbs, H.H.2
  • 43
    • 0025597137 scopus 로고
    • The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein
    • Hobbs, H. H., D. W. Russell, M. S. Brown, and J. L. Goldstein. 1990. The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. [Review]. Annu. Rev. Genet. 24: 133-170.
    • (1990) Annu. Rev. Genet. , vol.24 , pp. 133-170
    • Hobbs, H.H.1    Russell, D.W.2    Brown, M.S.3    Goldstein, J.L.4
  • 44
    • 0028960739 scopus 로고
    • 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
    • Hua, X., J. Wu, J. L. Goldstein, M. S. Brown, and H. H. Hobbs. 1995. 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. Genomics. 25: 667-673.
    • (1995) Genomics , pp. 667-673
    • Hua, X.1    Wu, J.2    Goldstein, J.L.3    Brown, M.S.4    Hobbs, H.H.5
  • 46
    • 0028330133 scopus 로고
    • The molecular basis of abeta-lipoproteinemia
    • Gregg, R. E., and J. R. Wetterau. 1994. The molecular basis of abeta-lipoproteinemia. [Review]. Curr. Opin. Lipidol. 5: 81-86.
    • (1994) Curr. Opin. Lipidol. , vol.5 , pp. 81-86
    • Gregg, R.E.1    Wetterau, J.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.