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MeSH Review

Xanthomatosis, Cerebrotendinous

 
 
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Disease relevance of Xanthomatosis, Cerebrotendinous

 

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Anatomical context of Xanthomatosis, Cerebrotendinous

 

Gene context of Xanthomatosis, Cerebrotendinous

 

Analytical, diagnostic and therapeutic context of Xanthomatosis, Cerebrotendinous

References

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  2. Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism. Wakamatsu, N., Hayashi, M., Kawai, H., Kondo, H., Gotoda, Y., Nishida, Y., Kondo, R., Tsuji, S., Matsumoto, T. J. Neurol. Neurosurg. Psychiatr. (1999) [Pubmed]
  3. Coronary heart disease in a patient with cerebrotendinous xanthomatosis. Valdivielso, P., Calandra, S., Durán, J.C., Garuti, R., Herrera, E., González, P. J. Intern. Med. (2004) [Pubmed]
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  12. Accumulation of 7 alpha-hydroxy-4-cholesten-3-one and cholesta-4,6-dien-3-one in patients with cerebrotendinous xanthomatosis: effect of treatment with chenodeoxycholic acid. Björkhem, I., Skrede, S., Buchmann, M.S., East, C., Grundy, S. Hepatology (1987) [Pubmed]
  13. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. Cali, J.J., Hsieh, C.L., Francke, U., Russell, D.W. J. Biol. Chem. (1991) [Pubmed]
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  15. Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid. Mondelli, M., Rossi, A., Scarpini, C., Dotti, M.T., Federico, A. Arch. Neurol. (1992) [Pubmed]
  16. Liver mitochondrial P450 involved in cholesterol catabolism and vitamin D activation. Okuda, K.I. J. Lipid Res. (1994) [Pubmed]
  17. Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis. Verrips, A., Steenbergen-Spanjers, G.C., Luyten, J.A., Wevers, R.A., Wokke, J.H., Gabreëls, F.J., Wolthers, B.G., van den Heuvel, L.P. Hum. Genet. (1997) [Pubmed]
  18. Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolism in cerebrotendinous xanthomatosis. Salen, G., Batta, A.K., Tint, G.S., Shefer, S. Metab. Clin. Exp. (1994) [Pubmed]
  19. Transformation of chenodeoxycholic acid and ursodeoxycholic acid by human intestinal bacteria. Fedorowski, T., Salen, G., Tint, G.S., Mosbach, E. Gastroenterology (1979) [Pubmed]
  20. Sterol 27-hydroxylase acts on 7-ketocholesterol in human atherosclerotic lesions and macrophages in culture. Brown, A.J., Watts, G.F., Burnett, J.R., Dean, R.T., Jessup, W. J. Biol. Chem. (2000) [Pubmed]
  21. Biosynthesis of cholesterol, lanosterol, and delta 7-cholestenol, but not cholestanol, in cultured fibroblasts from normal individuals and patients with cerebrotendinous xanthomatosis. Tint, G.S., Salen, G. J. Lipid Res. (1982) [Pubmed]
  22. Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings. Dotti, M.T., Federico, A., Signorini, E., Caputo, N., Venturi, C., Filosomi, G., Guazzi, G.C. AJNR. American journal of neuroradiology. (1994) [Pubmed]
  23. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds. Moghadasian, M.H. Clinical and investigative medicine. Médecine clinique et experimentale. (2004) [Pubmed]
  24. On the substrate specificity of human CYP27A1: implications for bile acid and cholestanol formation. Norlin, M., von Bahr, S., Bjorkhem, I., Wikvall, K. J. Lipid Res. (2003) [Pubmed]
  25. Disrupted coordinate regulation of farnesoid X receptor target genes in a patient with cerebrotendinous xanthomatosis. Honda, A., Salen, G., Matsuzaki, Y., Batta, A.K., Xu, G., Hirayama, T., Tint, G.S., Doy, M., Shefer, S. J. Lipid Res. (2005) [Pubmed]
  26. Identification of an endogenous ligand that activates pregnane X receptor-mediated sterol clearance. Dussault, I., Yoo, H.D., Lin, M., Wang, E., Fan, M., Batta, A.K., Salen, G., Erickson, S.K., Forman, B.M. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  27. Side chain hydroxylations in bile acid biosynthesis catalyzed by CYP3A are markedly up-regulated in Cyp27-/- mice but not in cerebrotendinous xanthomatosis. Honda, A., Salen, G., Matsuzaki, Y., Batta, A.K., Xu, G., Leitersdorf, E., Tint, G.S., Erickson, S.K., Tanaka, N., Shefer, S. J. Biol. Chem. (2001) [Pubmed]
  28. Study of a family with Cerebrotendinous Xanthomatosis. No HLA linkage, but an informative recombination between HLA-B and Bf. Brautbar, C., Yehuda, O., Eisenberg, S., Cohen, N., Amar, A., Sharon, R., Fried, K., Aghasi, M., Cohen, T. Tissue Antigens (1983) [Pubmed]
  29. Effect of chenodeoxycholic acid on biliary and urinary bile acids and bile alcohols in cerebrotendinous xanthomatosis; monitoring by high performance liquid chromatography. Batta, A.K., Shefer, S., Batta, M., Salen, G. J. Lipid Res. (1985) [Pubmed]
  30. Use of positive ion fast atom bombardment mass spectrometry for rapid identification of a bile alcohol glucuronide isolated from cerebrotendinous xanthomatosis patients. Dayal, B., Salen, G., Tint, G.S., Shefer, S., Benz, S.W. Steroids (1990) [Pubmed]
  31. Potential application of thin-layer chromatography and thin-layer chromatography with flame ionization detection of cholestanol in the diagnosis of cerebrotendinous xanthomatosis. Michalec, C., Ranný, M. J. Chromatogr. (1988) [Pubmed]
  32. Simplified determination of cholestanol in serum by gas-liquid chromatography: biochemical diagnosis of cerebrotendinous xanthomatosis. Serizawa, S., Seyama, Y., Otsuka, H., Kasama, T., Yamakawa, T. J. Biochem. (1981) [Pubmed]
  33. Reduction of urinary bile alcohol excretion and serum cholestanol in patients with cerebrotendinous xanthomatosis after oral administration of deoxycholic acid. Wolthers, B.G., van der Molen, J.C., Walrecht, H., Hesselmans, L.F. Clin. Chim. Acta (1990) [Pubmed]
 
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