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Volumn 45, Issue 12, 2004, Pages 2361-2367

Phenotypic heterogeneity of sitosterolemia

Author keywords

Bile acids; Genomic DNA; Intestinal absorption; Mutation; Sequence analysis; Sterols; Transporters

Indexed keywords

EZETIMIBE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; SITOSTEROL;

EID: 10044251362     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: 10.1194/jlr.M400310-JLR200     Document Type: Article
Times cited : (77)

References (43)
  • 1
    • 0016366624 scopus 로고
    • β-sitosterolemia and xanthomatosis - A newly described lipid storage disease in two sisters
    • Bhattacharyya, A. K., and W. E. Connor. 1974. β-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
  • 4
    • 0018841909 scopus 로고
    • Phytosterolemia, xanthomatosis and premature coronary atherosclerotic arterial disease: A case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis
    • Mietinnen, T. A. 1980. Phytosterolemia, xanthomatosis and premature coronary 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
    • Mietinnen, T.A.1
  • 5
    • 0028123112 scopus 로고
    • Phytosterolaemia in three unrelated South African families
    • Berger, G. M. B., 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.B.1    Deppe, W.M.2    Marais, A.D.3    Biggs, M.4
  • 8
    • 0036216339 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis: A rare disease with diverse manifestations
    • Moghadasian, M. H., G. Salen, J. J. Frohlich, and C. H. Scudamore. 2002. Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations. Arch. Neurol. 59: 527-529.
    • (2002) Arch. Neurol. , vol.59 , pp. 527-529
    • Moghadasian, M.H.1    Salen, G.2    Frohlich, J.J.3    Scudamore, C.H.4
  • 9
    • 0021856672 scopus 로고
    • Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis
    • Salen, G., P. O. Kwiterovich, Jr., S. Shefer, G. S. Tint, I. Horak, V. Shore, B. Dayal, and E. Horak. 1985. Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis. J. Lipid Res. 26: 203-209.
    • (1985) J. Lipid Res. , vol.26 , pp. 203-209
    • Salen, G.1    Kwiterovich Jr., P.O.2    Shefer, S.3    Tint, G.S.4    Horak, I.5    Shore, V.6    Dayal, B.7    Horak, E.8
  • 12
    • 0029112257 scopus 로고
    • Sterol absorption and sterol balance in phytosterolemia evaluated by deuterium-labeled sterols: Effect of sitostanol treatment
    • Lutjohann, D., I. Bjorkhem, U. F. Beil, and K. von Bergmann. 1995. Sterol absorption and sterol balance in phytosterolemia evaluated by deuterium-labeled sterols: effect of sitostanol treatment. J. Lipid Res. 36: 1763-1773.
    • (1995) J. Lipid Res. , vol.36 , pp. 1763-1773
    • Lutjohann, D.1    Bjorkhem, I.2    Beil, U.F.3    Von Bergmann, K.4
  • 15
    • 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
  • 16
    • 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
  • 17
    • 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
  • 18
    • 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
  • 19
    • 0031895065 scopus 로고    scopus 로고
    • Sitosterolemia: Exclusion of genes involved in reduced cholesterol biosynthesis
    • Patel, S. B., A. Honda, and G. Salen. 1998. Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis. J. Lipid Res. 39: 1055-1061.
    • (1998) J. Lipid Res. , vol.39 , pp. 1055-1061
    • Patel, S.B.1    Honda, A.2    Salen, G.3
  • 24
    • 0035491250 scopus 로고    scopus 로고
    • Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCGS) causing sitosterolemia
    • Hubacek, J. A., K. E. Berge, J. C. Cohen, and H. H. Hobbs. 2001. Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCGS) causing sitosterolemia. Hum. Mutat. 18: 359-360.
    • (2001) Hum. Mutat. , vol.18 , pp. 359-360
    • Hubacek, J.A.1    Berge, K.E.2    Cohen, J.C.3    Hobbs, H.H.4
  • 26
    • 0036351125 scopus 로고    scopus 로고
    • Novel donor splice site mutation of ABCG5 gene in sitosterolemia
    • Lam, C-W., A. W-F. Cheng, S-F. Ton, and Y-W. Chan. 2002. Novel donor splice site mutation of ABCG5 gene in sitosterolemia. Mol. Genet. Metab. 75: 178-180.
    • (2002) Mol. Genet. Metab. , vol.75 , pp. 178-180
    • Lam, C.-W.1    Cheng, A.W.-F.2    Ton, S.-F.3    Chan, Y.-W.4
  • 27
    • 0037432142 scopus 로고    scopus 로고
    • Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8
    • Mymin, D., J. Wang, J. Frohlich, and R. A. Hegele. 2003. Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8. Circulation. 107: 791.
    • (2003) Circulation , vol.107 , pp. 791
    • Mymin, D.1    Wang, J.2    Frohlich, J.3    Hegele, R.A.4
  • 28
    • 0032763577 scopus 로고    scopus 로고
    • Effects of dietary phytosterols on cholesterol metabolism and atherosclerosis: Clinical and experimental evidence
    • Moghadasian, M. H., and J. J. Frohlich. 1999. Effects of dietary phytosterols on cholesterol metabolism and atherosclerosis: clinical and experimental evidence. Am. J. Med. 107: 588-594.
    • (1999) Am. J. Med. , vol.107 , pp. 588-594
    • Moghadasian, M.H.1    Frohlich, J.J.2
  • 30
    • 0035987003 scopus 로고    scopus 로고
    • Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8
    • Iida, A., S. Saito, A. Sekine, C. Mishima, Y. Kitamura, K. Kondo, S. Harigae, S. Osawa, and Y. Nakamura. 2002. Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8. J. Hum. Genet. 47: 285-310.
    • (2002) J. Hum. Genet. , vol.47 , pp. 285-310
    • Iida, A.1    Saito, S.2    Sekine, A.3    Mishima, C.4    Kitamura, Y.5    Kondo, K.6    Harigae, S.7    Osawa, S.8    Nakamura, Y.9
  • 31
    • 0000743072 scopus 로고
    • Association of coronary atherosclerosis with hyperapobetalipoproteinemia [increased protein but normal cholesterol levels in human plasma low density (β) lipoproteins]
    • Sniderman, A., S. Shapiro, D. Marpole, B. Skinner, B. Teng, and P. O. Kwiterovich, Jr. 1980. Association of coronary atherosclerosis with hyperapobetalipoproteinemia [increased protein but normal cholesterol levels in human plasma low density (β) lipoproteins]. Proc. Natl. Acad. Sci. USA. 77: 604-608.
    • (1980) Proc. Natl. Acad. Sci. USA , vol.77 , pp. 604-608
    • Sniderman, A.1    Shapiro, S.2    Marpole, D.3    Skinner, B.4    Teng, B.5    Kwiterovich Jr., P.O.6
  • 32
    • 0017105173 scopus 로고
    • Low-density lipoproteins in patients homozygous for familial hyperbetalipoproteinemia
    • Mills, G. L., C. E. Taylaur, and M. J. Chapman. 1976. Low-density lipoproteins in patients homozygous for familial hyperbetalipoproteinemia. Clin. Sci. Mol. Med. 51: 221-231.
    • (1976) Clin. Sci. Mol. Med. , vol.51 , pp. 221-231
    • Mills, G.L.1    Taylaur, C.E.2    Chapman, M.J.3
  • 33
    • 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., 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.1    Shefer, S.2    Salen, G.3    Horak, I.4    Tint, G.S.5    McNamara, D.J.6
  • 34
    • 0031985824 scopus 로고    scopus 로고
    • Competitive inhibition of hepatic sterol 27-hydroxylase by sitosterol: Decreased activity in sitosterolemia
    • Nguyen, L., G. Shefer, G. Salen, G. S. Tint, and A. K. Batta. 1998. Competitive inhibition of hepatic sterol 27-hydroxylase by sitosterol: decreased activity in sitosterolemia. Proc. Assoc. Am. Phys. 10: 32-39.
    • (1998) Proc. Assoc. Am. Phys. , vol.10 , pp. 32-39
    • Nguyen, L.1    Shefer, G.2    Salen, G.3    Tint, G.S.4    Batta, A.K.5
  • 35
    • 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
  • 36
    • 0028877287 scopus 로고
    • A marked and sustained reduction in LDL sterols by diet and cholestyramine in β-sitosterolemia
    • Parsons, H. G., R. Jamal, and B. Baylis. 1995. A marked and sustained reduction in LDL sterols by diet and cholestyramine in β-sitosterolemia. Clin. Invest. Med. 18: 389-400.
    • (1995) Clin. Invest. Med. , vol.18 , pp. 389-400
    • Parsons, H.G.1    Jamal, R.2    Baylis, B.3
  • 40
    • 0037166261 scopus 로고    scopus 로고
    • Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors α and β
    • Repa, J. J., K. E. Berge, C. Pomajzl, J. A. Richardson, H. Hobbs, and D. J. Mangelsdorf. 2002. Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors α and β. J Biol. Chem. 277: 18793-18800.
    • (2002) J Biol. Chem. , vol.277 , pp. 18793-18800
    • Repa, J.J.1    Berge, K.E.2    Pomajzl, C.3    Richardson, J.A.4    Hobbs, H.5    Mangelsdorf, D.J.6
  • 41
    • 0036731990 scopus 로고    scopus 로고
    • Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface
    • Graf, G. A., W-P. Li, R. D. Gerard, I. Gelissen, A. White, J. C. Cohen, and H. H. Hobbs. 2002. Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface. J. Clin. Invest. 110: 659-669.
    • (2002) J. Clin. Invest. , vol.110 , pp. 659-669
    • Graf, G.A.1    Li, W.-P.2    Gerard, R.D.3    Gelissen, I.4    White, A.5    Cohen, J.C.6    Hobbs, H.H.7
  • 42
    • 0036733630 scopus 로고    scopus 로고
    • Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol
    • Yu, L., J. Li-Hawkins, R. E. Hammer, K. E. Berge, J. D. Horton, J. C. Cohen, and H. H. Hobbs. 2002. Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol. J. Clin. Invest. 110: 671-680.
    • (2002) J. Clin. Invest. , vol.110 , pp. 671-680
    • Yu, L.1    Li-Hawkins, J.2    Hammer, R.E.3    Berge, K.E.4    Horton, J.D.5    Cohen, J.C.6    Hobbs, H.H.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.