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10. 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 AK; Xu G; Leitersdorf E; Tint GS; Erickson SK; Tanaka N; Shefer S J Biol Chem; 2001 Sep; 276(37):34579-85. PubMed ID: 11454857 [TBL] [Abstract][Full Text] [Related]
11. A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family. Okuyama E; Tomita S; Takeuchi H; Ichikawa Y J Lipid Res; 1996 Mar; 37(3):631-9. PubMed ID: 8728324 [TBL] [Abstract][Full Text] [Related]
12. Identification of bile acid precursors as endogenous ligands for the nuclear xenobiotic pregnane X receptor. Goodwin B; Gauthier KC; Umetani M; Watson MA; Lochansky MI; Collins JL; Leitersdorf E; Mangelsdorf DJ; Kliewer SA; Repa JJ Proc Natl Acad Sci U S A; 2003 Jan; 100(1):223-8. PubMed ID: 12509506 [TBL] [Abstract][Full Text] [Related]
13. [A paradigm to elucidate a congenital disease, cerebrotendinous xanthomatosis]. Okuda K; Setoguchi T Tanpakushitsu Kakusan Koso; 1994 Sep; 39(12):2102-12. PubMed ID: 7938607 [No Abstract] [Full Text] [Related]
14. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. Cali JJ; Hsieh CL; Francke U; Russell DW J Biol Chem; 1991 Apr; 266(12):7779-83. PubMed ID: 2019602 [TBL] [Abstract][Full Text] [Related]
15. Inborn errors of metabolism with consequences for bile acid biosynthesis. A minireview. Björkhem I Scand J Gastroenterol Suppl; 1994; 204():68-72. PubMed ID: 7824882 [TBL] [Abstract][Full Text] [Related]
16. Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity. Dotti MT; Federico A; Garuti R; Calandra S Mov Disord; 2000 Sep; 15(5):1017-9. PubMed ID: 11009219 [No Abstract] [Full Text] [Related]
17. Biologic role(s) of the 25(R),26-hydroxycholesterol metabolic pathway. Javitt NB Biochim Biophys Acta; 2000 Dec; 1529(1-3):136-41. PubMed ID: 11111083 [TBL] [Abstract][Full Text] [Related]
18. Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis. Verrips A; Nijeholt GJ; Barkhof F; Van Engelen BG; Wesseling P; Luyten JA; Wevers RA; Stam J; Wokke JH; van den Heuvel LP; Keyser A; Gabreëls FJ Brain; 1999 Aug; 122 ( Pt 8)():1589-95. PubMed ID: 10430841 [TBL] [Abstract][Full Text] [Related]
19. Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). Kim KS; Kubota S; Kuriyama M; Fujiyama J; Björkhem I; Eggertsen G; Seyama Y J Lipid Res; 1994 Jun; 35(6):1031-9. PubMed ID: 7915755 [TBL] [Abstract][Full Text] [Related]
20. [New bile acid biosynthesis pathways]. Souidi M; Parquet M; Dubrac S; Lutton C Gastroenterol Clin Biol; 2001 Jan; 25(1):81-92. PubMed ID: 11275621 [No Abstract] [Full Text] [Related] [Next] [New Search]