The Vitamin D 25-Hydroxylase

Vitamin D

Volumn 1, Issue , 2005, Pages 47-67

  Gascon Barré, Marielle ^a  

^a UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 33746632531     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012252687-9/50007-3     Document Type: Chapter

References (177)

1. 3. Biochemistry 1968, 7:3317-3322.
2. Ponchon G, Kennan AL, DeLuca HF "Activation" of vitamin D by the liver. J Clin Invest 1969, 48:2032-2037.
3. 3. J Clin Invest 1976, 57:1213-1220.
4. Andersson S, Davis DL, Dahlback H, Jornvall H, Russell DW Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme. J Biol Chem 1989, 264:8222-8229.
5. 3 25-hydroxylase from rat liver mitochondria. FEBS Lett 1990, 262:135-138.
6. Cali JJ, Russell DW Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. J Biol Chem 1991, 266:7774-7778.
7. 3. J Biol Chem 1978, 253:842-849.
8. 3 25-hydroxylase. Biochem Biophys Res Commun 1997, 241:491-497.
9. Cheng JB, Motola DL, Mangelsdorf DJ, Russell DW De-orphanization of cytochrome P450 2R1. A microsomal vitamin D 25-hydroxylase. J Biol Chem 2003, 278:38084-38093.
10. Gascon-Barré M, Huet PM Role of the liver in the homeostasis of calciferol metabolism in the dog. Endocrinology 1982, 110:563-570.
11. 3 in the dog. Am J Physiol (Gastrointest Liver Physiol) 1986, 251:G627-G635.
12. 3. Endocrinology 1991, 129:2335-2344.
13. 3. Biochim Biophys Acta 1976, 421:12-21.
14. 3 by the dog liver. Can J Physiol Pharmacol 1986, 64:699-702.
15. Haddad JG, Jennings AS, Choon AwT Vitamin D uptake and metabolism by perfused rat liver: Influences of carrier proteins. Endocrinology 1988, 123:498-504.
16. 3 by isolated rat liver cells. J Biol Chem 1981, 256:10430-10434.
17. 3 from intestinal lymph. Am J Physiol 1983, 245:E326-E331.
18. 3. Metabolism 1985, 34:244-250.
19. 3 uptake by the isolated perfused rat liver from lipoprotein fractions is separate from cholesterol and triglyceride uptake. Eur J Clin Invest 1985, 15:95-99.
20. 3 administration. Am J Physiol 2003, 284:E138-E147.
21. 3 in the periportal and perivenous region of the hepatic acinus. Am J Physiol (Endocrinol Metab) 1992, 262:E810-E817.
22. 3 is independent of its venous or arterial route of delivery. Studies in isolated-perfused rat liver preparations. J Pharmacol Exp Ther 1988, 245:975-981.
23. Horsting M, DeLuca HF In vitro production of 25-hydroxycholecalciferol. Biochem Biophys Res Commun 1969, 36:251-256.
24. Ponchon G, DeLuca HF The role of the liver in the metabolism of vitamin D. J Clin Invest 1969, 48:1273-1279.
25. DeLuca HF Metabolism and mechanism of action of 25-hydroxycholecalciferol. Cellular Mechanisms for Calcium and Homeostasis 1971, 426-430. Academic Press, New York. G. Nicholes, R.H. Wasserman (Eds.).
26. Bhattacharyya MH, DeLuca HF Subcellular location of rat liver calciferol-25-hydroxylase. Arch Biochem Biophys 1974, 160:58-62.
27. Madhok TC, Schnoes HK, DeLuca HF Incorporation of oxygen-18 into the 25-position of cholecalciferol by hepatic cholecalciferol 25-hydroxylase. Biochem J 1978, 175:479-482.
28. Fukushima M, Nishii Y, Suzuki M, Suda T Comparative studies on the 25-hydroxylations of cholecalciferol and 1α-hydroxycholecalciferol in perfused rat liver. Biochem J 1978, 170:495-502.
29. 3-25-hydroxylase: Tissue occurrence and apparant lack of regulation. Arch Biochem Biophys 1973, 155:47-57.
30. Bhattacharyya MH, DeLuca HF The regulation of calciferol-25-hydroxylase in the chick. Biochem Biophys Res Commun 1974, 59:734-741.
31. 3. FEBS Lett 1995, 375:277-279.
32. Hosseinpour F, Norlin M, Wikvall K Kidney microsomal 25-and 1α-hydroxylase in vitamin D metabolism: catalytic properties, molecular cloning, cellular localization and expression during development. Biochim Biophys Acta 2002, 1580:133-144.
33. Bhattacharyya MH, DeLuca HF The regulation of rat liver calciferol-25-hydroxylase. J Biol Chem 1973, 248:2969-2973.
34. 3 and dihydrotachysterol. J Biol Chem 1973, 248:2974-2977.
35. Madhok TC, DeLuca HF Characteristics of the rat liver microsomal enzyme system converting cholecalciferol into 25-hydroxycholecalciferol. Biochem J 1979, 184:491-499.
36. 3 by a reconstituted system from rat liver microsomes. Biochem Biophys Res Commun 1979, 90:615-622.
37. 3-25-hydroxylase. Arch Biochem Biophys 1980, 203:529-541.
38. 3 by a constitutive cytochrome P-450 from rat liver microsomes. J Biol Chem 1983, 258:6777-6781.
39. 3 from rat liver microsomes. Biochem Biophys Res Commun 1984, 121:994-1000.
40. 3 25-hydroxylase by a protein fraction from rat liver microsomes. Biochem Biophys Res Commun 1984, 123:1209-1214.
41. Nelson DR, Kamataki T, Waxman DJ, Guengerich FP, Estabrook RW, Feyereisen R, Gonzalez FJ, Coon MJ, Gunsalus IC, Gotoh O, Okuda K, Nebert DW The P450 superfamily: Update on new sequences, gene mapping, accession numbers, early trivial names of enzymes, and nomenclature. DNA Cell Biol 1993, 12:1-51.
42. D25-linked mixed function oxidase system. Biochem Boophs Commun 1980, 97:1443-1449.
43. 3 from rat liver microsomes. J Biochem 1986, 99:1753-1763.
44. Okuda KI Liver mitochondrial P450 involved in cholesterol catabolism and vitamin D activation. J Lipid Res 1994, 35:361-372.
45. 3 in rat liver microsomes. J Biol Chem 1986, 261:16932-16936.
46. 3 in rat liver: Roles of mitochondrial and microsomal cytochrome P-450. Biochem Biophys Res Commun 1987, 142:999-1005.
47. Saarem K, Pedersen JI Sex differences in the hydroxylation of cholecalciferol and of 5β-cholestane-3α,7α,12α-triol in rat liver. Biochem J 1987, 247:73-78.
48. 3 25-hydroxylase of rat liver microsomes. J Biochem 1988, 103:863-866.
49. Thierry-Palmer M, Free AL, Nagappan PR, Butler AR Cholecalciferol 25-hydroxylation is similar in liver microsomes from male and female rats when cholecalciferol concentration is low. J Nutr 1995, 125:104-111.
50. 3 and oxidation of dopamine to aminochrome. Biochem Mol Med 1996, 58:122-129.
51. 3 in pig liver. J Steroid Biochem Mol Biol 1994, 51:97-106.
52. 3 25-hydroxylase (CYP2D25): Catalytic properties, tissue distribution and comparison with human CYP2D6. J Biol Chem 2000, 275:34650-34655.
53. 3 in piglets suffering from pseudo vitamin D-deficiency rickets, type I. Biochim Biophys Acta 1998, 1407:234-242.
54. Ciobanu DC, Gill RK, Rothschild MF, Bell NH Rapid communication: Porcine vitamin D-25-hydroxylase maps to chromosome 5′. J Anim Sci 2000, 78:3193-3194.
55. Hosseinpour F, Hidestrand M, Ingelman-Sundberg M, Wikvall K The importance of residues in substrate recognition site 3 for the catalytic function of CYP2D25 (vitamin D 25-hydroxylase). Biochem Biophys Res Commun 2001, 288:1059-1063.
56. 3 in primary cultures of pig hepatocytes: evidence for a role of both CYP2D25 and CYP27A1. Biochem Biophys Res Commun 2003, 303:877-883.
57. 3 25-hydroxylases (CYP2D25 and CYP27A1): a novel reaction by CYP27A1. Biochim Biophys Acta 2003, 1632:40-47.
58. Nelson DR Comparison of P450s from human and fugu: 420 million years of vertebrate P450 evolution. Arch Biochem Biophys 2003, 409:18-24.
59. Bjorkhem I Mechanism of bile acid biosynthesis in mammalian liver. Sterols and Bile Acids 1985, 231-278. Elsevier Science, New York. H. Danielsson, J. Sjovall (Eds.).
60. 13C]mevalonates. J Am Chem Soc 1977, 99:931-935.
61. Danielsson H On the oxidation of 3α,7α,12α-trihydroxycoprostane by mouse and rat liver homogenates. Acta Chem Scand 1960, 14:348-352.
62. Shefer S, Cheng FW, Batta AK, Daval B, Tint GS, Salen G, Mosbach EH Stereospecific side chain hydroxylations in the biosynthesis of chenodeoxycholic acid. J Biol Chem 1978, 253:6386-6392.
63. Atsuta Y, Okuda K On the stereospecificity of cholestanetriol 26-monooxygenase. J Biol Chem 1981, 256:9144-9146.
64. Björkhem I Mechanism of degradation of the steroid side chain in the formation of bile acids. J Lipid Res 1992, 33:455-471.
65. Björkhem I, Gustafsson J Omega-hydroxylation of steroid side-chain in biosynthesis of bile acids. Eur J Biochem 1973, 36:201-212.
66. Cronholm T, Johansson G Oxidation of 5β-cholestane-3α,7α,12α-triol by rat liver microsomes. Eur J Biochem 1970, 373-381.
67. Taniguchi S, Hoshita N, Okuda K Enzymatic characteristics of CO-sensitive 26-hydroxylase system for 5β-cholestane-3α,7α,12α-triol in rat-liver mitochondria and its intramitochondrial localization. Eur J Biochem 1973, 40:607-617.
68. Bjorkhem I, Gustafsson J Mitochondrial omega-hydroxylation of the cholesterol side chain. J Biol Chem 1974, 249:2528-2535.
69. Okuda KI, Weber P, Ullrich V Photochemical action spectrum of the CO-inhibited 5β-cholestane-3α,7α,12α-triol 26-hydroxylase system. Biochem Biophys Res Commun 1977, 74:1071-1076.
70. Sato R, Atsuta Y, Imai Y, Taniguchi S, Okuda KI Hepatic mitochondrial cytochrome P-450: isolation and functional characterization. Proc Natl Acad Sci USA 1977, 74:5477-5481.
71. Pedersen JI, Oftebro H, Vanngard T Isolation from bovine liver mitochondria of a soluble ferredoxin active in a reconstituted steroid hydroxylation reaction. Biochem Biophys Res Commun 1977, 76:666-673.
72. Okamura T, John ME, Zuber MX, Simpson ER, Waterman MR Molecular cloning and amino acid sequence of the precursor form of bovine adreno doxin: Evidence for a previously unidentified COOH-terminal peptide. Proc Natl Acad Sci USA 1985, 82:5705-5709.
73. Hanukoglu I, Gutfinger T cDNA sequence of adrenodoxin reductase. Identification of NADP-binding sites in oxidoreductases. Eur J Biochem 1989, 180:479-484.
74. Ugele B, Locher M, Burger HJ, Gebhardt R Is there a heterogeneity of liver parenchyma in taurocholate uptake?. Bile Acids and the Liver 1986, 153-160. MTP Press Ltd., Boston. G. Paumgartner, A. Stiehl, W. Gerok (Eds.).
75. Pedersen JI, Godager HK Purification of NADPH-ferredoxin reductase from rat liver mitochondria. Biochim Biophys Acta 1978, 525:28-36.
76. Okuda K, Masumoto O, Ohyama Y Purification and characterization of 5β-cholestane-3α, 7α, 12α-triol 27-hydroxylase from female rat liver mitochondria. J Biol Chem 1988, 263:18138-18142.
77. Lyons MA, Maeda N, Brown AJ Paradoxical enhancement of hepatic metabolism of 7-ketocho lesterol in sterol 27-hydroxylase-deficient mice. Biochim Biophys Acta 2002, 1581:119-126.
78. 27-steroids. J Biol Chem 1984, 259:3800-3804.
79. 27-steroid side chain. J Clin Invest 1975, 55:478-486.
80. Masumoto O, Ohyama Y, Okuda K Purification and characterization of vitamin D 25-hydroxylase from rat liver mitochondria. J Biol Chem 1988, 263:14256-14260.
81. Ohyama Y, Masumoto O, Usui E, Okuda K Multi-functional property of rat liver mitochondrial cytochrome p-450. J Biochem 1991, 109:389-393.
82. Dixon M, Webb EC Enzymes. The investigation of enzyme specificity 1979, 232-234. Longman, London. M. Dixon, E.C. Webb (Eds.).
83. 3 by a cytochrome P-450 enzyme system isolated from human liver mitochondria. J Lipid Res 1981, 22:1254-1264.
84. 3 25-hydroxylase in human liver. J Biol Chem 1984, 259:10936-10960.
85. Saarem K, Pedersen JI 25-hydroxylation of 1α-hydroxyvitamin D-3 in rat and human liver. Biochim Biophys Acta 1985, 840:117-126.
86. 3: Gonadotropic regulation of the cognate mRNA in ovaries. DNA Cell Biol 1990, 9:657-665.
87. Guo YD, Strugnell S, Back DW, Jones G Transfected human liver cytochrome P-450 hydroxylates vitamin D analogs at different side-chain positions. Proc Natl Acad Sci USA 1993, 90:8668-8672.
88. Nebert DW, McKinnon RA Cytochrome P450: Evolution and functional diversity. Progress in Liver Diseases 1994, 63-97. WB Saunders, Philadelphia. J.L. Boyer, R.K. Ockner (Eds.).
89. Sakaki T, Akiyoshi-Shibata M, Yabusaki Y, Ohkawa H Organella-targeted expression of rat liver cytochrome P450c27 in yeast. Genetically engineered alteration of mitochondrial P450 into a microsomal from creates a novel functional electron transport chain. J Biol Chem 1992, 267:16497-16502.
90. Shayiq RM, Avadhani NG Sequence complementarity between the 5′-terminal regions of mRNAs for rat mitochondrial cytochrome P-450c27/25 and a growth hormone-inducible serine protease inhibitor. A possible gene overlap. J Biol Chem 1992, 267:2421-2428.
91. Mullick J, Addya S, Sucharov C, Avadhani NG Localization of a transcription promoter within the second exon of the cytochrome P-450c27/25 gene for the expression of the major species of two-kilobase mRNA. Biochemistry 1995, 34:13729-13742.
92. 3 results from ligand-induced stabilization. J Biol Chem 1992, 267:20082-20086.
93. Vlahcevic ZR, Jairath SK, Heuman DM, Stravitz RT, Hylemon PB, Avadhani NG, Pandak WM Transcriptional regulation of hepatic sterol 27-hydroxylase by bile acids. Am J Physiol 1996, 270:G646-G652.
94. Twisk J, Hoekman FM, Lehmann EM, Meijer P, Mager WH, Princen HMG Insulin suppresses bile acid synthesis in cultured rat hepatocytes by down-regulation of cholesterol 7α-hydroxylase and sterol 27-hydroxylase gene transcription. Hepatology 1995, 21:501-510.
95. Usui E, Noshiro M, Ohyama Y, Okuda K Unique property of liver mitochondrial P450 to catalyze the two physiologically important reactions involved in both cholesterol catabolism and vitamin D activation. FEBS Lett 1990, 274:175-177.
96. 3 25-hydroxylase cDNA in Saccharomyces cerevisiae. FEBS Lett 1991, 280:367-370.
97. Holmberg-Betsholtz I, Lund E, Bjorkhem I, Wikvall K Sterol 27-hydroxylase in bile acid biosynthesis. Mechanism of oxidation of 5β-cholestane-3α, 7α, 12α, 27-tetrol into 3α, 7α, 12α-trihydroxy-5β-cholestanoic acid. J Biol Chem 1993, 268:11079-11085.
98. Kusano K, Kagawa N, Sakaguchi M, Omura T, Waterman MR Importance of a prolife-rich sequence in the amino-terminal region for correct folding of mitochondrial and soluble microbial p450s. J Biochem 2001, 129:271-277.
99. 3. Proc Natl Acad Sci USA 1994, 91:10014-10018.
100. Arlazoroff A, Roitberg B, Werber E, Shidlo R, Berginer VM Epileptic seizure as a presenting symptom of cerebrotendinous xanthomatosis. Epilepsia 1991, 32:657-661.
101. 3 by human CYP27A1. Biochem Biophys Res Commun 2000, 273:977-984.
102. 2 in mammals. Biochemistry 1990, 29:578-582.
103. 2 detectable in human serum. J Clin Endocrinol Metab 1998, 83:2156-2166.
104. Dilworth FJ, Scott I, Green A, Strugnell S, Guo YD, Roberts EA, Kremer R, Calverley MJ, Makin HLJ, Jones G Different mechanisms of hydroxylation site selection by liver and kidney cytochrome P450 species (CYP27 and CYP24 involved in vitamin D metabolism. J Biol Chem 1995, 270:16766-16774.
105. 3. Biochim Biophys Acta 2002, 1583:151-166.
106. Thierry-Palmer M, Gray TK, Napoli JL Ring hydroxylation of 25-hydroxycholecalciferol by rat renal microsomes. J Steroid Biochem 1988, 29:623-628.
107. 2. J Steroid Biochem Mol Biol 1999, 71:63-70.
108. 2. Arch Biochem Biophys 1980, 202:450-457.
109. 3. Biochemistry 1981, 20:2350-2353.
110. 3 25-hydroxylase from rat liver mitochondria. J Biol Chem 1980, 255:5244-5249.
111. 3 by a cytochrome P-450 from rabbit liver mitochondria. Biochem J 1988, 252:207-213.
112. 3, 1α-hydroxylase activity. Biochem Biophys Res Commun 1995, 215:136-141.
113. 3-1α-hydroxylase in porcine hepatic tissue: Subcellular localization to both mitochondria and microsomes. Proc Natl Acad Sci USA 1990, 87:6009-6013.
114. 3-1α-hydroxylase in the liver of carp and bastard halibut. Life Sci 1991, 48:275-282.
115. 3 in the liver of fetal rats. Comp Biochem Physiol [C] 1994, 109C:1-7.
116. Negrea LA, Slotapolsky E, Dusso AS 1,25-dihydroxyvitamin D synthesis in rat liver microsomes. Horm Metabol Res 1995, 27:461-464.
117. Stravitz RT, Vlahcevic ZR, Russell TL, Heizer ML, Avadhani NG, Hylemon PB Regulation of sterol 27-hydroxylase and an alternative pathway of bile acid biosynthesis in primary cultures of rat hepatocytes. J Steroid Biochem Mol Biol 1996, 57:337-347.
118. Twisk J, Hoekman MFM, Mager WH, Moorman AFM, De Boer PAJ, Scheja L, Princen HMG, Gebhardt R Heterogenous expression of cholesterol 7α-hydroxylase and sterol 27-hydroxylase genes in the rat liver lobulus. J Clin Invest 1995, 95:1235-1243.
119. 3-25-hydroxylase CYP27A. Am J Physiol 2001, 281:E315-E325.
120. 3 hydroxylases and the drug metabolizing enzyme CYP3A4 in the human fetal intestine. Clin Endocrinol 2003, 58:489-499.
121. Memon RA, Moser AH, Shigenaga JK, Grunfeld C, Feingold KR In vivo and in vitro regulation of sterol 27-hydroxylase in the liver during the acute phase response. Potential role of hepatocyte nuclear factor-1. J Biol Chem 2001, 276:30118-30126.
122. Segev H, Honigman A, Rosen H, Leitersdorf E Transcriptional regulation of the human sterol 27-hydroxylase gene (CYP27) and promoter mapping. Atherosclerosis 2001, 156:339-347.
123. Cozzolino M, Vidal M, Arcidiacono MV, Tebas P, Yarasheski KE, Dusso AS HIV-protease inhibitors impair vitamin D bioactivation to 1,25-dihydroxyvitamin D. AIDS 2003, 17:513-520.
124. Post SM, Duez H, Gervois PP, Staels B, Kuipers F, Princen HMG Fibrates suppress bile acid synthesis via peroxisome proliferator-Activated receptorα-mediated downregulation of cholesterol 7α-hydroxylase and sterol 27-hydroxylase expression. Arterioscler Thromb Vasc Biol 2001, 2001:1840-1845.
125. Araya Z, Tang W, Wikvall K Hormonal regulation of the human sterol 27-hydroxylase gene CYP27A1. Biochem J 2003, 372:529-534.
126. Chen W, Chiang JYL Regulation of human sterol 27-hydroxylase gene ( CYP27A1) by bile acids and hepatocyte nuclear factor 4α (HNF4α). Gene 2003, 313:71-82.
127. Araya Z, Sjoberg H, Wikvall K Different effects on the expression of CYP7 and CYP27 in rabbit liver by cholic acid and cholestyramine. Biochem Biophys Res Commun 1995, 216:868-873.
128. Nakajima S, Hsieh JC, MacDonald PN, Galligan MA, Haussler CA, Whitfield GK, Haussler MR The C-terminal region of the vitamin D receptor is essential to form a complex with a receptor auxiliary factor required for high affinity binding to the vitamin D-responsive element. Mol Endocrinol 1994, 8:159-172.
129. Rao YP, Vlahcevic ZR, Stravitz RT, Mallonee DH, Mullick J, Avadhani NG, Hylemon PB Down-regulation of the rat hepatic sterol 27-hydroxylase gene by bile acids in transfected primary hepatocytes: possible role of hepatic nuclear factor 1α. J Steroid Biochem Mol Biol 1999, 70:1-14.
130. Cereghini S Liver-enriched transcription factors and hepatocyte differentiation. FASEB J 1996, 10:267-282.
131. Bolt MJG, Sitrin MD, Favus MJ, Rosenberg IH Hepatic vitamin D 25-hydroxylase: inhibition by bile duct ligation or bile salts. Hepatology 1981, 1:436-440.
132. Plourde V, Gascon-Barré M, Willems B, Huet PM Severe cholestasis leads to vitamin D depletion without perturbing its C-25 hydroxylation in the dog. Hepatology 1988, 8:1577-1585.
133. Princen HMG, Meijer P, Wolthers BG, Vonk RJ, Kuipers F Cyclosporine A blocks bile acid synthesis in cultured hepatocytes by specific inhibition of chenodeoxycholic acid synthesis. Biochem J 1991, 275:501-505.
134. 3 by cyclosporin A. Biochem J 1993, 2933:203-206.
135. 3H-25 hydroxyvitamin D production by the rachitic rat liver in vitro. Calcif Tissue Int 1983, 35:461-464.
136. 3 inhibits the hepatic production of 25-hydroxyvitamin D in man. J Clin Invest 1984, 74:1540-1544.
137. Clements MR, Davies M, Hayes ME, Hickey CD, Lumb GA, Mawer EB, Adams PH The role of 1,25-dihydroxyvitamin D in the mechanism of acquired vitamin D deficiency. Clin Endocrinol 1992, 37:17-27.
138. 3 in vitamin D-depleted rats. J Clin Invest 1986, 78:1529-1537.
139. 3 administration in the rat reduces the serum concentration of 25-hydroxyvitamin D by increasing metabolic clearance rate. J Clin Invest 1986, 78:622-628.
140. Gascon-Barré M, Demers C, Mirshahi A, Néron S, Zalzal S, Nanci A The normal liver harbors the vitamin D nuclear receptor in nonparenchymal and biliary epithelial cells. Hepatology 2003, 37:1034-1042.
141. Gascon-Barré M, Demers C, Ghrab O, Theodoropoulos C, Lapointe R, Jones G, Valiquette L, Ménard D Expression of CYP27A, a gene encoding a vitamin D-25 hydroxylase in human, liver and kidney. Clin Endocrinol 2001, 54:107-115.
142. Cali JJ, Hsieh CL, Francke U, Russell DW Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 1991, 266:7779-7783.
143. Leitersdorf E, Reshef A, Meiner V, Levitzki R, Schwartz SP, Dann EJ, Berkman N, Cali JJ, Klapholz L, Berginer VM Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews of Moroccan origin. J Clin Invest 1993, 91:2488-2496.
144. Berginer VM, Shany S, Alkalay D, Berginer J, Dekel S, Salen G, Tint GS, Gazit D Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. Metab Clin Exp 1993, 42:69-74.
145. Leitersdorf E, Safadi R, Meiner V, Reshef A, Bjorkhem I, Friedlander Y, Morkos S, Berginer VM Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics. Am J Hum Genet 1994, 55:907-915.
146. Berginer VM, Shany S, Alkalay D, Berginer J, Dekel S, Salen G, Tint GS, Gazit D Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. Metabolism 1993, 42:69-74.
147. Kuriyama M, Fujiyama J, Kubota R, Nakagawa M, Osame M Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis [Letter to editor]. Metab Clin Exp 1993, 42:1497.
148. Sawada N, Sakaki T, Kitanaka S, Kato S, Inouye K Structure-function analysis of CYP27B1 and CYP27A1. Studies on mutants from patients with vitamin D-dependent rickets type I (VDDR-I) and cerebrotendinous xanthomatosis (CTX). Eur J Biochem 2001, 268:6607-6615.
149. 3-25-hydroxylase. J Bone Miner Res 1991, 6:S120.
150. 2 made in the human hepatoma Hep3B. Biochem J 1995, 310:233-241.
151. Rosen H, Reshef A, Maeda N, Lippoldt A, Shpizen S, Triger L, Eggertsen G, Björkhem I, Leitersdorf E Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene. J Biol Chem 1998, 273:14805-14812.
152. -/- mice but not in cerebrotendinous xanthomatosis. J Biol Chem 2001, 276:34579-34585.
153. Björkhem I, Araya Z, Rudling M, Angelin B, Einarsson C, Wikvall K Differences in the regulation of the classical and the alternative pathway for bile acid synthesis in human liver. No coordinate regulation of CYP7A1 and CYP27A1. J Biol Chem 2002, 277:26804-26807.
154. Goodwin B, Gauthier KC, Umetani M, Watson MA, Lochansky MI, Collins JL, Leitersdorf E, Mangelsdorf DJ, Kliewer SA, Repa JJ Identification of bile acid precursors as endogenous ligands for the nuclear xenobiotic pregnane, X receptor. Proc Natl Acad Sci USA 2003, 100:223-228.
155. 3 by the fetal and neonatal rat liver. Biol Neonate 1985, 48:21-28.
156. 3 by the fetal and neonatal rat liver. Pediatr Res 1985, 19:1206-1209.
157. 3 25-hydroxylase activity in rat liver microsomes. Arch Biochem Biophys 1986, 250:120-127.
158. 3. Biochem Biophys Res Commun 1980, 96:1619-1625.
159. Tsankova V, Visentin M, Cantoni L, Carelli M, Tacconi MT Peripheral benzodiazepine receptor ligands in rat liver mitochondria: Effect on 27-hydroxylation of cholesterol. Eur J Pharmacol 1996, 299:197-203.
160. Delvin EE, Glorieux FH, Salle BL, David L, Varenne JP Control of vitamin D metabolism in pretern infants: feto-maternal relationships. Arch Dis Child 1982, 57:754-757.
161. Hillman LS, Hoff N, Salmons S, Martin L, McAlister WH, Haddad J Mineral homeostasis in very premature infants: Serial evaluation of serum 25-hydroxyvitamin D, serum minerals and bone mineralization. J Pediatr 1985, 106:970-980.
162. Salle BL, Glorieux FH, Delvin EE, David LS, Meunier G Vitamin D metabolism in preterm infants. Serial serum calcitriol values during the first four days of life. Acta Paediatr Scand 1983, 72:203-206.
163. Addya A, Zheng YM, Shayiq RM, Fan J, Avadhani NG Characterization of a female-specific hepatic mitochondrial cytochrome P-450 whose steady-state level is modulated by testosterone. Biochemistry 1991, 30:8323-8330.
164. Bühler R, Lindros KO, Nordling A, Johansson I, Ingelman-Sundberg M Zonation of cytochrome P450 isozyme expression and induction in rat liver. Eur J Biochem 1992, 204:407-412.
165. Hansson M, Ellis E, Hunt MC, Schmitz G, Babiker A Marked induction of sterol 27-hydroxylase activity and mRNA levels during differentiation of human cultured monocytes into macrophages. Biochim Biophys Acta 2003, 1593:283-289.
166. Jabara S, Christenson LK, Wang CY, McAllister JM, Javitt NB, Dunaif A, Strauss JF Stromal cells of the human postmeopausal ovary display a distinctive biochemical and molecular phenotype. J Clin Endocrinol Metab 2003, 88:484-492.
167. Javitt NB 25R,26-hydroxycholesterol revisited: Synthesis, metabolism, and biologic roles. J Lipid Res 2002, 43:665-670.
168. 3 or UVB radiation in keratinocytes of human skin equivalents. A preliminary study. Arch Dermatol Res 1999, 291:507-510.
169. 3-hydroxylases. Steroids 2001, 66:399-408.
170. 3 24-hydroxylase expression in parathyroid tumors-New prospects for treatment of hyperparathyroidism with vitamin D. J Clin Endocrinol Metab 2002, 87:5826-5829.
171. 3. Bone 1995, 16:129-135.
172. Bjorkhem I, Andersson O, Diczfalusy U, Sevastik B, Xiu RJ, Duan C, Lund E A therosclerosis and sterol 27-hydroxylase: Evidence for a role of this enzyme in elimination of cholesterol from human macrophages. Proc Natl Acad Sci USA 1994, 91:8592-8596.
173. Reiss AB, Martin KO, Javitt NB, Martin DW, Grossi EA, Galloway AC Sterol 27-hydroxylase: high levels of activity in vascular endothelium. J Lipid Res 1994, 35:1026-1030.
174. Delvin EE, Arabian A, Glorieux FH Kinetics of liver microsomal cholecalciferol 25-hydroxylase in vitamin D-depleted and -repleted rats. Biochem J 1978, 172:417-422.
175. 3-25 hydroxylase in hepatocytes isolated from normocalcemic vitamin D-depleted rats. Biochem J 1988, 255:91-97.
176. 3. Scand J Clin Lab Invest 1986, 46:785-790.
177. Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russel DW Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. Proc Natl Acad Sciences (USA) 2004, 101:771-775.