메뉴 건너뛰기




Volumn 31, Issue SUPPL. 2, 2008, Pages

Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; 7-DEHYDROCHOLESTEROL; BIOLOGICAL MARKER; CHENODEOXYCHOLIC ACID; CHOLESTA 5,8 DIEN 3 BETA OL; CHOLESTA-5,8-DIEN-3 BETA-OL; CHOLESTANOL; CHOLESTEROL; LANOSTEROL; LATHOSTEROL; SITOSTEROL; SITOSTEROL DERIVATIVE;

EID: 84855609660     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0963-1     Document Type: Article
Times cited : (29)

References (24)
  • 1
    • 0021784183 scopus 로고
    • Effect of chenodeoxycholic acid on biliary and urinary bile acids and bile alcohols in cerebrotendinous xanthomatosis; monitoring by high performance liquid chromatography
    • Batta AK, Shefer S, Batta M, et al (1985) Effect of chenodeoxycholic acid on biliary and urinary bile acids and bile alcohols in cerebrotendinous xanthomatosis; monitoring by high performance liquid chromatography. J Lipid Res 26:690-698.
    • (1985) J Lipid Res , vol.26 , pp. 690-698
    • Batta, A.K.1    Shefer, S.2    Batta, M.3
  • 2
    • 0021707122 scopus 로고
    • Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
    • Berginer VM, Salen G, Shefer S (1984) Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 311:1649-1652.
    • (1984) N Engl J Med , vol.311 , pp. 1649-1652
    • Berginer, V.M.1    Salen, G.2    Shefer, S.3
  • 3
    • 0025914556 scopus 로고
    • Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis
    • Cali JJ, Hsieh CL, Francke U, et al (1991) Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 266:7779-7783.
    • (1991) J Biol Chem , vol.266 , pp. 7779-7783
    • Cali, J.J.1    Hsieh, C.L.2    Francke, U.3
  • 4
    • 0024471908 scopus 로고
    • Effect of 25-hydroxycholesterol and bile acids on the regulation of cholesterol metabolism in Hep G2 cells
    • Carlson TL, Kottke BA (1989) Effect of 25-hydroxycholesterol and bile acids on the regulation of cholesterol metabolism in Hep G2 cells. Biochem J 264:241-247.
    • (1989) Biochem J , vol.264 , pp. 241-247
    • Carlson, T.L.1    Kottke, B.A.2
  • 5
    • 0019198483 scopus 로고
    • Occurrence of bile alcohol glucuronides in bile of patients with cerebrotendinous xanthomatosis
    • Hoshita T, Yasuhara M, Une M, et al (1980) Occurrence of bile alcohol glucuronides in bile of patients with cerebrotendinous xanthomatosis. J Lipid Res 21:1015-1021.
    • (1980) J Lipid Res , vol.21 , pp. 1015-1021
    • Hoshita, T.1    Yasuhara, M.2    Une, M.3
  • 6
    • 0034684043 scopus 로고    scopus 로고
    • Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction-based assays to simplify genotyping
    • doi:10.1002/1096-8628 20000918 94:3<214::AID-AJMG7>3.0. CO;2-R
    • Krakowiak PA, Nwokoro NA, Wassif CA, et al (2000) Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. Am J Med Genet 94:214-227. doi:10.1002/1096-8628 (20000918) 94:3<214::AID-AJMG7>3.0. CO;2-R.
    • (2000) Am J Med Genet , vol.94 , pp. 214-227
    • Krakowiak, P.A.1    Nwokoro, N.A.2    Wassif, C.A.3
  • 7
    • 0026019220 scopus 로고
    • High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis
    • Kuriyama M, Fujiyama J, Kasama T, et al (1991) High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis. J Lipid Res 32:223-229.
    • (1991) J Lipid Res , vol.32 , pp. 223-229
    • Kuriyama, M.1    Fujiyama, J.2    Kasama, T.3
  • 8
    • 0028112040 scopus 로고
    • Treatment of cerebrotendinous xanthomatosis: Effects of chenodeoxycholic acid, pravastatin, and combined use
    • doi:10.1016/0022-510X 94 90237-2
    • Kuriyama M, Tokimura Y, Fujiyama J, et al (1994) Treatment of cerebrotendinous xanthomatosis: effects of chenodeoxycholic acid, pravastatin, and combined use. J Neurol Sci 125:22-28. doi:10.1016/0022-510X (94) 90237-2.
    • (1994) J Neurol Sci , vol.125 , pp. 22-28
    • Kuriyama, M.1    Tokimura, Y.2    Fujiyama, J.3
  • 9
    • 0035089564 scopus 로고    scopus 로고
    • Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U. S.pedigrees
    • Lee MH, Hazard S, Carpten JD, et al (2001) Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U. S.pedigrees. J Lipid Res 42:159-169.
    • (2001) J Lipid Res , vol.42 , pp. 159-169
    • Lee, M.H.1    Hazard, S.2    Carpten, J.D.3
  • 10
    • 0028345558 scopus 로고
    • Cerebrotendinous xanthomatosis: Molecular diagnosis enables presymptomatic detection of a treatable disease
    • Meiner V, Meiner Z, Reshef A, et al (1994) Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease. Neurology 44:288-290.
    • (1994) Neurology , vol.44 , pp. 288-290
    • Meiner, V.1    Meiner, Z.2    Reshef, A.3
  • 11
    • 0014303558 scopus 로고
    • Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system
    • Menkes JH, Schimschock JR, Swanson PD, et al (1968) Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system. Arch Neurol 19:47-53.
    • (1968) Arch Neurol , vol.19 , pp. 47-53
    • Menkes, J.H.1    Schimschock, J.R.2    Swanson, P.D.3
  • 12
    • 0025895604 scopus 로고
    • Combined treatment with chenodeoxycholic acid and pravastatin improves plasma cholestanol levels associated with marked regression of tendon xanthomas in cerebrotendinous xanthomatosis
    • doi:10.1016/0026-0495 91 90094-D
    • Nakamura T, Matsuzawa Y, Takemura K, et al (1991) Combined treatment with chenodeoxycholic acid and pravastatin improves plasma cholestanol levels associated with marked regression of tendon xanthomas in cerebrotendinous xanthomatosis. Metabolism 40:741-746. doi:10.1016/0026-0495 (91) 90094-D.
    • (1991) Metabolism , vol.40 , pp. 741-746
    • Nakamura, T.1    Matsuzawa, Y.2    Takemura, K.3
  • 13
    • 0015992965 scopus 로고
    • Determination of hepatic 3-hydroxy-3-methylglutaryl CoA reductase activity in man
    • Nicolau G, Shefer S, Salen G, et al (1974) Determination of hepatic 3-hydroxy-3-methylglutaryl CoA reductase activity in man. J Lipid Res 15:94-98.
    • (1974) J Lipid Res , vol.15 , pp. 94-98
    • Nicolau, G.1    Shefer, S.2    Salen, G.3
  • 14
    • 20444435114 scopus 로고    scopus 로고
    • Sterol parameters as markers of liver function in primary biliary cirrhosis before and after liver transplantation
    • doi:10.1111/j.1432-2277.2004.00002.x
    • Nikkila K, Miettinen TA, Hockerstedt KV, et al (2005) Sterol parameters as markers of liver function in primary biliary cirrhosis before and after liver transplantation. Transpl Int 18:221-225. doi:10.1111/j.1432-2277.2004.00002.x.
    • (2005) Transpl Int , vol.18 , pp. 221-225
    • Nikkila, K.1    Miettinen, T.A.2    Hockerstedt, K.V.3
  • 15
    • 0023875095 scopus 로고
    • Aneurysmal coronary artery disease in cerebrotendinous xanthomatosis
    • doi:10.1016/0002-9149 88 90155-5
    • Potkin BN, Hoeg JM, Connor WE, et al (1988) Aneurysmal coronary artery disease in cerebrotendinous xanthomatosis. Am J Cardiol 61:1150-1152. doi:10.1016/0002-9149 (88) 90155-5.
    • (1988) Am J Cardiol , vol.61 , pp. 1150-1152
    • Potkin, B.N.1    Hoeg, J.M.2    Connor, W.E.3
  • 16
    • 0014791296 scopus 로고
    • Metabolism of beta-sitosterol in man
    • doi:10.1172/JCI106315
    • Salen G, Ahrens EH, Jr., Grundy SM, et al (1970) Metabolism of beta-sitosterol in man. J Clin Invest 49:952-967. doi:10.1172/JCI106315.
    • (1970) J Clin Invest , vol.49 , pp. 952-967
    • Salen, G.1    Ahrens Jr., E.H.2    Grundy, S.M.3
  • 17
    • 0016734920 scopus 로고
    • Bile alcohol metabolism in man. Conversion of β-cholestane-α 7alpha, 12alpha, 25-tetrol to cholic acid
    • doi:10.1172/JCI108071
    • Salen G, Shefer S, Setoguchi T, et al (1975) Bile alcohol metabolism in man. Conversion of β-cholestane-α 7alpha, 12alpha, 25-tetrol to cholic acid. J Clin Invest 56:226-231. doi:10.1172/JCI108071.
    • (1975) J Clin Invest , vol.56 , pp. 226-231
    • Salen, G.1    Shefer, S.2    Setoguchi, T.3
  • 18
    • 0021810422 scopus 로고
    • Biosynthesis of bile acids in cerebrotendinous xanthomatosis. Relationship of bile acid pool sizes and synthesis rates to hydroxylations at C-12, C-25, and C-26
    • doi:10.1172/JCI112030
    • Salen G, Shefer S, Tint GS, et al (1985) Biosynthesis of bile acids in cerebrotendinous xanthomatosis. Relationship of bile acid pool sizes and synthesis rates to hydroxylations at C-12, C-25, and C-26. J Clin Invest 76:744-751. doi:10.1172/JCI112030.
    • (1985) J Clin Invest , vol.76 , pp. 744-751
    • Salen, G.1    Shefer, S.2    Tint, G.S.3
  • 19
    • 0028075336 scopus 로고
    • Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolismincerebrotendinous xanthomatosis
    • doi:10.1016/0026-0495 94 90183-X
    • Salen G, Batta AK, Tint GS, et al (1994) Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolismincerebrotendinous xanthomatosis. Metabolism 43:1018-1022. doi:10.1016/0026-0495 (94) 90183-X.
    • (1994) Metabolism , vol.43 , pp. 1018-1022
    • Salen, G.1    Batta, A.K.2    Tint, G.S.3
  • 20
    • 0028798653 scopus 로고
    • Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family
    • doi:10.1007/BF00209413
    • Segev H, Reshef A, Clavey V, et al (1995) Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family. Hum Genet 95:238-240. doi:10.1007/BF00209413.
    • (1995) Hum Genet , vol.95 , pp. 238-240
    • Segev, H.1    Reshef, A.2    Clavey, V.3
  • 21
    • 13044264478 scopus 로고    scopus 로고
    • Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis
    • doi:10.1016/S0026-0495 99 90040-9
    • Verrips A, Wevers RA, Van Engelen BG, et al (1999) Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis. Metabolism 48:233-238. doi:10.1016/S0026-0495 (99) 90040-9.
    • (1999) Metabolism , vol.48 , pp. 233-238
    • Verrips, A.1    Wevers, R.A.2    Van Engelen, B.G.3
  • 22
    • 0034048587 scopus 로고    scopus 로고
    • Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
    • doi:10.1093/brain/123.5.908
    • Verrips A, Hoefsloot LH, Steenbergen GC, et al (2000) Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain 123:908-919. doi:10.1093/brain/123.5.908.
    • (2000) Brain , vol.123 , pp. 908-919
    • Verrips, A.1    Hoefsloot, L.H.2    Steenbergen, G.C.3
  • 23
    • 33745398874 scopus 로고    scopus 로고
    • Inhibition of cholesterogenesis decreases hepatic secretion of apoB-100 in normolipidemic subjects
    • Watts GF, Naoumova RP, Kelly JM, et al (1997) Inhibition of cholesterogenesis decreases hepatic secretion of apoB-100 in normolipidemic subjects. Am J Physiol 273:E462-E470.
    • (1997) Am J Physiol , vol.273
    • Watts, G.F.1    Naoumova, R.P.2    Kelly, J.M.3
  • 24
    • 0025794067 scopus 로고
    • Use of determinations of 7-lathosterol (5 alpha-cholest-7-en-3 beta-ol) and other cholesterol precursors in serum in the study and treatment of disturbances of sterol metabolism, particularly cerebrotendinous xanthomatosis
    • Wolthers BG, Walrecht HT, Van Der Molen JC, et al (1991) Use of determinations of 7-lathosterol (5 alpha-cholest-7-en-3 beta-ol) and other cholesterol precursors in serum in the study and treatment of disturbances of sterol metabolism, particularly cerebrotendinous xanthomatosis. J Lipid Res 32:603-612.
    • (1991) J Lipid Res , vol.32 , pp. 603-612
    • Wolthers, B.G.1    Walrecht, H.T.2    Van Der Molen, J.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.