The enzymes, regulation, and genetics of bile acid synthesis

Annual Review of Biochemistry

Volumn 72, Issue , 2003, Pages 137-174

  Russell, David W ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Catabolism; Cholesterol; Cytochrome P450; Genetic disease; Nuclear receptors

Indexed keywords

2 METHYLACYL COENZYME A RACEMASE; 3BETA HYDROXY DELTA5 STEROID DEHYDROGENASE; BILE ACID; CELL NUCLEUS RECEPTOR; CHOLESTEROL; CHOLESTEROL 7ALPHA MONOOXYGENASE; CYTOCHROME P450; ENZYME; FARNESOID X RECEPTOR; LIVER RECEPTOR HOMOLOG 1; LIVER X RECEPTOR ALPHA; OXIDOREDUCTASE; OXYGENASE; RACEMASE; RECEPTOR; RETINOID X RECEPTOR; STEROID 5BETA REDUCTASE; STEROL 27 HYDROXYLASE; UNCLASSIFIED DRUG;

BILE ACID SYNTHESIS; CATABOLISM; CHEMICAL REACTION; CONJUGATION; ENZYME ANALYSIS; ENZYME DEFICIENCY; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; REACTION ANALYSIS; REGULATORY MECHANISM; REVIEW;

ANIMALS; BILE ACIDS AND SALTS; CHOLESTEROL; ENZYMES; HOMEOSTASIS; HUMANS; LIVER; LIVER DISEASES; RECEPTORS, CYTOPLASMIC AND NUCLEAR;

MAMMALIA;

EID: 0037790917     PISSN: 00664154     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.biochem.72.121801.161712     Document Type: Review

References (205)

1. Carey MC. 1982. The Liver, Biology and Pathobiology, pp. 429-65. New York: Raven
2. Russell DW, Setchell KDR. 1992. Biochemistry 31:4737-49
3. Hylemon PB, Harder J. 1998. FEMS Microbiol. Rev. 22:475-88
4. Natl. Cent. Biotechnol. Inf. 2002. GenBank. http://www.ncbi.nlm.nih.gov/
5. Chiang JYL. 1998. Front. Biosci. 3:D176-93
6. Ogishima T, Deguchi S, Okuda K. 1987. J. Biol. Chem. 262:7646-50
7. Li YC, Wang DP, Chiang JYL. 1990. J. Biol. Chem. 265:12012-19
8. Jelinek DF, Andersson S, Slaughter CA, Russell DW. 1990. J. Biol. Chem. 265:8190-97
9. Li YC, Chiang JYL. 1991. J. Biol. Chem. 266:19186-91
10. Karam WG, Chiang JYL. 1994. J. Lipid Res. 35:1222-31
11. Nakayama K, Puchkaev A, Pikuleva IA. 2001. J. Biol. Chem. 276:31459-65
12. Miyake JH, Doung X-DT, Strauss W, Moore GL, Castellani LW, et al. 2001. J. Biol. Chem. 276:23304-11
13. Ishibashi S, Schwarz M, Frykman PK, Herz J, Russell DW. 1996. J. Biol. Chem. 271:18017-23
14. Schwarz M, Lund EG, Setchell KDR, Kayden HJ, Zerwekh JE, et al. 1996. J. Biol. Chem. 271:18024-31
15. Arnon R, Yoshimura T, Reiss A, Budai K, Lefkowitch JH, Javitt NB. 1998. Gastroenterology 115:1223-28
16. Schwarz M, Russell DW, Dietschy JM, Turley SD. 1998. J. Lipid Res. 39:1833-43
17. Schwarz M, Russell DW, Dietschy JM, Turley SD. 2001. J. Lipid Res. 42:1594-603
18. Javitt NB. 2000. Biochim. Biophys. Acta 1529:136-41
19. Lund EG, Guileyardo JM, Russell DW. 1999. Proc. Natl. Acad. Sci. USA 96:7238-43
20. Bogdanovic N, Bretillon L, Lund EG, Diczfalusy U, Lannfelt L, et al. 2001. Neurosci. Lett. 314:45-48
21. Deleted in proof
22. Björkhem I, Diczfalusy U, Lutjohann D. 1999. Curr. Opin. Lipidol. 10:161-65
23. Björkhem I, Lutjohann D, Diczfalusy U, Stahle L, Ahlborg G, Wahren J. 1998. J. Lipid Res. 39:1594-600
24. Björkhem I, Andersson U, Ellis E, Alvelius G, Ellegard L, et al. 2001. J. Biol. Chem. 276:37004-10
25. Shanldin J, Cahoon EB. 1998. Annu. Rev. Plant Physiol. Plant Mol. Biol. 49:611-41
26. Lund EG, Kerr TA, Sakai J, Li W-P, Russell DW. 1998. J. Biol. Chem. 273:34316-48
27. Schroepfer GJ. 2000. Physiol. Rev. 80:361-554
28. Li-Hawkins J, Lund EG, Turley SD, Russell DW. 2000. J. Biol. Chem. 275:16536-42
29. Dzeletovic S, Breuer O, Lund E, Diczfalusy U. 1995. Anal. Biochem. 225:73-80
30. Lund E, Björkhem I, Furster C, Wikvall K. 1993. Biochim. Biophys. Acta 1166:177-82
31. Babiker A, Andersson O, Lindblom D, van der Linden J, Wiklund B, et al. 1999. J. Lipid Res. 40:1417-25
32. Duane WC, Javitt NB. 1999. J. Lipid Res. 40:1194-99
33. Pullinger CR, Eng C, Salen G, Shefer S, Batta AK, et al. 2002. J. Clin. Investig. 110:109-17
34. Li-Hawkins J, Lund EG, Bronson AD, Russell DW. 2000. J. Biol. Chem. 275:16543-49
35. Li-Hawkins J, Meunch C, Russell DW. 2000. Pathways of bile acid synthesis. Presented at Biol. Bile Acids Health Dis. XVI Int. Bile Acid Meet., ed. GP van Berge Henegouwen, D Keppler, U Leuschner, G Paumgartner, A Stiehl., Dordrecht, Neth.: Kluwer Acad.
36. Ikeda H, Ueda M, Ikeda M, Kobayashi H, Honda Y. 2003. Lab. Investig. 83:349-55
37. Stapleton G, Steel M, Richardson M, Mason JO, Rose KA, et al. 1995. J. Biol. Chem. 270:29739-45
38. Rose KA, Stapleton G, Dott K, Kieny MP, Best R, et al. 1997. Proc. Natl. Acad. Sci. USA 94:4925-30
39. Schwarz M, Lund EG, Lathe R, Björkhem I, Russell DW. 1997. J. Biol. Chem. 272:23995-24001
40. Martin KO, Reiss AB, Lathe R, Javitt NB. 1997. J. Lipid Res. 38:1053-58
41. Rose K, Allan A, Gauldie S, Stapleton G, Dobbie L, et al. 2001. J. Biol. Chem. 276:23937-44
42. Schwarz M, Wright AC, Davis DL, Nazer H, Björkhem I, Russell DW. 2000. J. Clin. Investig. 106:1175-84
43. Wikvall K. 1981. J. Biol. Chem. 256:3376-80
44. Furster C, Zhang J, Toll A. 1996. J. Biol. Chem. 271:20903-7
45. Eggertsen G, Olin M, Andersson U, Ishida H, Kubota S, et al, 1996. J. Biol. Chem. 271:32269-75
46. Gafvels M, Olin M, Chowdhary BP, Raudsepp T, Andersson U, et al. 1999. Genomics 56:184-96
47. Li-Hawkins J, Gafvels M, Olin M, Lund EG, Andersson U, et al. 2002. J. Clin. Investig. 110:1191-200
48. Castillo-Olivares A, Gil G. 2000. J. Biol. Chem. 275:17793-99
49. Castillo-Olivares A, Gil G. 2001. Nucleic Acids Res. 29:4035-42
50. Jez JM, Penning TM. 2001. Chem.-Biol. Interact. 130(1-3):499-525
51. Penning TM. 1997. Endocr. Rev. 18:281-305
52. Usui E, Okuda K, Kato Y, Noshiro M. 1994. J. Biochem. 115:230-37
53. Andersson S, Davis DL, Dahlback H, Jornvall H, Russell DW. 1989. J. Biol. Chem. 264:8222-29
54. Dahlback H, Holmberg I. 1990. Biochem. Biophys. Res. Commun. 167:391-95
55. Pikuleva IA, Babiker A, Waterman MR, Björkhem I. 1998. J. Biol. Chem. 273:18153-60
56. Rosen H, Reshef A, Maeda N, Lippoldt A, Shpizen S, et al. 1998. J. Biol. Chem. 273:14805-12
57. Repa JJ, Lund EG, Horton JD, Leitersdorf E, Russell DW, et al. 2000. J. Biol. Chem. 275:39685-92
58. Honda A, Salen G, Matsuzaki Y, Batta AK, Xu G, et al. 2001. J. Biol. Chem. 276:34579-85
59. Honda A, Salen G, Matsuzaki Y, Batta AK, Xu G, et al. 2001. J. Lipid Res. 42:291-300
60. Kast HR, Nguyen CM, Sinal CJ, Jones SA, Laffitte BA, et al. 2001. Mol. Endocrinol. 15:1720-28
61. Björkhem I, Boberg KM, Leitersdorf E. 2001. In The Metabolic and Molecular Bases of Inherited Disease, ed. CR Scriver, AL Beaudet, WS Sly, D Valle, B Childs, et al., 2:2961-88. New York: McGraw-Hill. 8th ed.
62. Furster C, Wikvall K. 1999. Biochim. Biophys. Acta 1437:46-52
63. Reddy JK, Hashimoto T. 2001. Annu. Rev. Nutr. 21:193-230
64. Uchiyama A, Aoyama T, Kamijo K, Uchida Y, Kondo N, et al. 1996. J. Biol. Chem. 271:30360-65
65. Berger J, Truppe C, Neumann H, Forss-Petter S. 1998. FEBS Lett. 425:305-9
66. Steinberg SJ, Wang SJ, Kim DG, Mihalik SJ, Watkins PA. 1999. Biochem. Biophys. Res. Commun. 257:615-21
67. Steinberg SJ, Wang SJ, McGuinness MC, Watkins PA. 1999. Mol. Genet. Metab. 68:32-42
68. Mihalik SJ, Steinberg SJ, Pei Z, Park J, Kim DG, et al. 2002. J. Biol. Chem. 277:24771-79
69. Gustafsson J, Sjostedt S. 1978. J. Biol. Chem. 253:199-201
70. Shefer S, Cheng FW, Batta AK, Dayal B, Tint GS, et al. 1978. J. Biol. Chem. 253:6386-92
71. Kotti TJ, Savolainen K, Helander HM, Yagi A, Novikov DK, et al. 2000. J. Biol. Chem. 275:20887-95
72. Amery L, Fransen M, De Nys K, Mannaerts GP, van Veldhoven PP. 2000. J. Lipid Res. 41:1752-59
73. Schmitz W, Albers C, Fingerhut R, Conzelmann E. 1995. Eur. J. Biochem. 231:815-22
74. Lee SS, Pineau T, Drago J, Lee EJ, Owens JW, et al. 1995. Mol. Cell. Biol. 15:3012-22
75. VanVeldhoven PP, Vanhove G, Assselberghs S, Eyssen HJ, Mannaerts GP. 1992. J. Biol. Chem. 267:20065-74
76. Fan C-Y, Pan J, Chu R, Lee D, Kluckman KD, et al. 1996. J. Biol. Chem. 271:24698-710
77. Infante JP, Tschanz CL, Shaw N, Michaud AL, Lawrence P, Brenna JT. 2002. Mol. Genet. Metab. 75:108-19
78. Wanders RJA, Barth PG, Heymans HSA. 2001. See Ref. 59, Vol. II, pp. 3219-56
79. Baes M, Huyghe S, Carmeliet P, Declercq PE, Collen D, et al. 2000. J. Biol. Chem. 275:16329-36
80. Vanhove GF, Van Veldhoven PP, Fransen M, Denis S, Eyssen HJ, et al. 1993. J. Biol. Chem. 268:10335-44
81. Haapalainen AM, van Aalten DMF, Merilainen G, Jalonen JE, Pirila P, et al. 2001. J. Mol. Biol. 313:1127-38
82. Seedorf U, Assmann G. 1991. J. Biol. Chem. 266:630-36
83. Ohba T, Holt JA, Billheimer JT, Strauss JF III. 1995. Biochemistry 34:10660-68
84. Choinowski T, Hauser H, Piontek K. 2000. Biochemistry 39:1897-902
85. Seedorf U, Rabbe M, Ellinghaus P, Kannenberg F, Fobker M, et al. 1998. Genes Dev. 12:1189-201
86. Kannenberg F, Ellinghaus P, Assmann G, Seedorf U. 1999. J. Biol. Chem. 274:35455-60
87. Seedorf U, Ellinghaus P, Nofer JR. 2000. Biochim Biophys Acta 1486:45-54
88. Solaas K, Ulvestad A, Soreide O, Kase BF. 2000. J. Lipid Res. 41:1154-62
89. Falany CN, Fortinberry H, Leiter EH, Barnes S. 1997. J. Lipid Res. 38:1139-48
90. Falany CN, Johnson MR, Barnes S, Diasio RB. 1994. J. Biol. Chem. 269:19375-79
91. Hunt MC, Solaas K, Kase BF, Alexson SEH. 2002. J. Biol. Chem. 277:1128-38
92. Budavari S, ed. 1989. The Merck Index. Rahway, NJ: Merck & Co. 11th ed.
93. Love MW, Dawson PA. 1998. Curr. Opin. Lipidol. 9:225-29
94. Borst P, Elferink RO. 2002. Annu. Rev. Biochem. 71:537-92
95. Stocco DM. 2001. Annu. Rev. Physiol. 63:193-213
96. Sugawara T, Lin D, Holt JA, Martin KO, Javitt NB, et al. 1995. Biochemistry 34:12506-12
97. Pandak WM, Ren S, Marques D, Hall E, Redford K, et al. 2002. J. Biol. Chem. 277:48,158-64. 10.1074/jbc. M205244200
98. Soccio RE, Adams RM, Romanowski MJ, Sehayek E, Burley SK, Breslow JL. 2002. Proc. Natl. Acad. Sci. USA 99:6943-48
99. Moser HW, Smith KD, Watkins PA, Powers J, Moser AB. 2001. See Ref. 59, Vol. II, pp. 3257-3301
100. Shani N, Watkins PA, Valle D. 1995. Proc. Natl. Acad. Sci. USA 92:6012-16
101. Shani N, Valle D. 1996. Proc. Natl. Acad. Sci. USA 93:11901-6
102. Swartzmann EE, Viswanathan MN, Thorner J. 1996. J. Cell Biol. 132:549-63
103. Zolman BK, Silva ID, Bartel B. 2001. Plant Physiol. 127:1266-78
104. Wilcox LJ, Balderes DA, Wharton B, Tinkelenberg AH, Rao G, et al. 2002. J. Biol. Chem. 277:32466-72
105. Kralli A, Bohen SP, Yamamoto KR. 1995. Proc. Natl. Acad. Sci. USA 92:4701-5
106. Sitcheran R, Emter R, Kralli A, Yamamoto KR. 2000. Genetics 156:963-72
107. Danielsson H, Einarsson K, Johansson G. 1967. Eur. J. Biochem. 2:44-49
108. Shefer S, Hauser S, Mosbach EH. 1968. J. Lipid Res. 9:328-33
109. Lu TT, Makishima M, Repa JJ, Schoonjans K, Kerr TA, et al. 2000. Mol. Cell. 6:507-15
110. Goodwin B, Jones SA, Price RR, Watson MA, McKee DD, et al. 2000. Mol. Cell. 6:517-26
111. Nitta M, Ku S, Brown C, Okamoto AY, Shan B. 1999. Proc. Natl. Acad. Sci. USA 96:6660-65
112. Lee YK, Moore DD. 2001. J. Biol. Chem. 277:2463-67
113. Janowski BA, Willy PJ, Devi TR, Falck JR, Mangelsdorf DJ. 1996. Nature 383:728-31
114. Lehmann JM, Kliewer SA, Moore LB, Smith-Oliver TA, Oliver BB, et al. 1997. J. Biol. Chem. 272:3137-40
115. Forman BM, Ruan B, Chen J, Schroepfer GJ Jr, Evans RM. 1997. Proc. Natl. Acad. Sci. USA 94:10588-93
116. Makishima M, Okamoto AY, Repa JJ, Tu H, Learned RM, et al. 1999. Science 284:1362-65
117. Parks DJ, Blanchard SG, Bledsoe RK, Chandra G, Consler TG, et al. 1999. Science 284:1365-68
118. Wang HB, Chen J, Hollister K, Sowers LC, Forman BM. 1999. Mol. Cell. 3:543-53
119. Urizar NL, Dowhan DH, Moore DD. 2000. J. Biol. Chem. 275:39313-17
120. Ananthanarayanan M, Balasubramanian N, Makishima M, Mangelsdorf DJ, Suchy FJ. 2001. J. Biol. Chem. 276:28857-65
121. Kast HR, Goodwin B, Tarr PT, Jones SA, Anisfeld AM, et al. 2002. J. Biol. Chem. 277:2908-15
122. Jung D, Podvinec M, Meyer UA, Mangelsdorf DJ, Fried M, et al. 2002. Gastroenterology 122:1954-66
123. Sinal CJ, Tohkin M, Miyata M, Ward JM, Lambert G, Gonzalez FJ. 2000. Cell 102:731-44
124. Maloney PR, Parks DJ, Haffner CD, Fivush AM, Chandra G, et al. 2000. J. Med. Chem. 43:2971-74
125. Urizar NL, Liverman AB, Dodds DT, Silva FV, Ordentlich P, et al. 2002. Science 296:1703-6
126. Wu J, Xia CS, Meier J, Li SZ, Hu X, Lala DS. 2002. Mol. Endocrinol. 16:1590-97
127. Cui J, Heard TS, Yu JH, Lo JL, Huang L, et al. 2002. J. Biol. Chem. 277:25963-69
128. Seol W, Choi HS, Moore DD. 1996. Science 272:1336-39
129. Lee YK, Parker KL, Choi HS, Moore DD. 1999. J. Biol. Chem. 274:20869-73
130. Kerr TA, Saeki S, Schneider M, Schaefer K, Berdy S, et al. 2002. Dev. Cell 2:713-20
131. Wang L, Lee Y-K, Bundman D, Han YQ, Thevananther S, et al. 2002. Dev. Cell 2:721-31
132. Zhang M, Chiang JY. 2001. J. Biol. Chem. 276:41690-99
133. Goodhart SA, Huynh C, Chen W, Coooper AD, Levy-Wilson B. 1999. Biochem. Biophys. Res. Commun. 266:454-59
134. Agellon LB, Drover VAB, Cheema SK, Gbaguidi GF, Walsh A. 2002. J. Biol. Chem. 277:20131-34
135. Becker-Andre M, Andre E, DeLamarter JF. 1993. Biochem. Biophys. Res. Commun. 194:1371-79
136. Ellinger-Ziegelbauer H, Hihi AK, Laudet V, Keller H, Wahli W, Dreyer C. 1994, Mol. Cell. Biol. 14:2786-97
137. Galarneau L, Pare JF, Allard D, Hamel D, Levesque L, et al. 1996. Mol. Cell. Biol. 16:3853-65
138. Repa JJ, Mangelsdorf DJ. 1999. Curr. Opin. Biotechnol. 10:557-63
139. Parker KL, Rice DA, Lala DS, Ikeda Y, Luo X, et al. 2002. Recent Prog. Horm. Res. 57:19-36
140. Ito M, Yu R, Jameson JL. 1997. Mol. Cell. Biol. 17:1476-83
141. Duel S, Drisko J, Graf L, Machleder D, Lusis AJ, Davis RA. 1993. J. Lipid Res. 34:923-31
142. Chiang JY, Kimmel R, Stroup D. 2001. Gene 262:257-65
143. Peet DJ, Turley SD, Ma W, Janowski BA, Lobaccaro J-MA, et al. 1998. Cell 93:693-704
144. Rudel L, Deckelman C, Wilson M, Scobey M, Anderson R. 1994. J. Clin. Investig. 93:2463-72
145. Xu G, Salen G, Shefer S, Ness GC, Nguyen LB, et al. 1995. J. Clin. Investig. 95:1497-504
146. Alberti S, Steffensen KR, Gustafsson J-A. 2000. Gene 243:93-103
147. Alberti S, Schuster G, Parini P, Feltkamp D, Diczfalusy U, et al. 2001. J. Clin. Investig. 107:565-73
148. Repa JJ, Liang G, Ou J, Bashmakov Y, Lobaccaro J-MA, et al. 2000. Genes Dev. 14:2819-30
149. Vlahcevic ZR, Eggertsen G, Björkhem I, Hylemon PB, Redford K, Pandak WM. 2000. Gastroenterology 118:599-607
150. Horton JD, Goldstein JL, Brown MS. 2002. J. Clin. Investig. 109:1125-31
151. Repa JJ, Turley SD, Lobaccaro J-MA, Medina J, Li L, et al. 2000. Science 289:1524-29
152. Repa JJ, Berge KE, Pomajzl C, Richardson JA, Hobbs H, Mangelsdorf DJ. 2002. J. Biol. Chem. 277:18793-800
153. Edwards PA, Kast HR, Anisfeld AM. 2002. J. Lipid Res. 43:2-12
154. Cao G, Beyer TP, Yang XP, Schmidt RJ, Zhang Y, et al. 2002. J. Biol. Chem. 277:39561-65
155. Schultz JR, Tu H, Luk A, Repa JJ, Medina JC, et al. 2000. Genes Dev. 14:2831-38
156. Menke JG, Macnaul KL, Hayes NS, Baffic J, Chao Y-S, et al. 2002. Endocrinology 143:2548-58
157. Goodwin B, Watson MA, Kim H., Miao J, Kemper JK, Kliewer SA. 2002. Mol. Endocrinol. 17:386-94
158. Claudel T, Leibowitz MD, Fievet C, Tailleux A, Wagner B, et al. 2001. Proc. Natl. Acad. Sci. USA 98:2610-15
159. Tangirala RK, Bischoff ED, Joseph SB, Wagner BL, Walczak R, et al. 2002. Proc. Natl. Acad. Sci. USA. 99:11896-901
160. Wan Y-JY, An D, Cai Y, Repa JJ, Hung-Po Chen T, et al. 2000. Mol. Cell. Biol. 20:4436-44
161. Mangelsdorf DJ, Borgmeyer U, Heyman RA, Zhou JY, Ong ES, et al. 1992. Genes Dev. 6:329-44
162. Ness GC, Pendelton LC, Li YC, Chiang JY. 1990. Biochem. Biophys. Res. Commun. 172:1150-56
163. Pandak WM, Heuman DM, Redford K, Stravitz RT, Chiang JY, et al. 1997. J. Lipid Res. 38:2483-91
164. Andersson U, Yang YZ, Björkhem I, Einarsson C, Eggertsen G, Gafvels M. 1999. Biochim. Biophys. Acta 1438:167-74
165. Drover VA, Wong NC, Agellon LB. 2002. Mol. Endocrinol. 16:14-23
166. Gullberg H, Rudling M, Forrest D, Angelin B, Vennstrom B. 2000. Mol. Endocrinol. 14:1739-49
167. Hayhurst GP, Lee Y-H, Lambert G, Ward JM, Gonzalez FJ. 2001. Mol. Cell. Biol. 21:1393-403
168. de Fabiani E, Mitro N, Anzulovich AC, Pinelli A, Galli G, Crestani M. 2001. J. Biol. Chem. 276:30708-16
169. Grundy SM, Vega GL. 1987. Am. J. Med. 83:9-20
170. Post SM, Duez H, Gervois PP, Staels B, Kuipers F, Princen HM. 2001. Arterioscler. Thromb. Vasc. Biol. 21:1840-45
171. Marrapodi M, Chiang JY. 2000. J. Lipid Res. 41:514-20
172. Patel DD, Knight BL, Soutar AK, Gibbons GF, Wade DP. 2000. Biochem. J. 351:747-53
173. Hunt MC, Yang Y-Z, Eggertsen G, Carneheim CM, Gafvels M, et al. 2000. J. Biol. Chem. 275:28947-53
174. Staudinger JL, Goodwin B, Jones SA, Hawkins-Brown D, MacKenzie KI, et al. 2001. Proc. Natl. Acad. Sci. USA 98:3369-74
175. Xie W, Radominska-Pandya A, Shi Y, Simon CM, Nelson MC, et al. 2001. Proc. Natl. Acad. Sci. USA 98:3375-80
176. Makishima M, Lu TT, Xie W, Whitfield GK, Domoto H, et al. 2002. Science 296:1313-16
177. Staudinger J, Liu Y, Madan A, Habeebu S, Klaasen CD. 2001. Drug Metab. Dispos. 29:1467-72
178. Moore LB, Maglich JM, McKee DD, Wisely B, Willson TM, et al. 2002. Mol. Endocrinol. 16:977-86
179. Shih DQ, Bussen M, Sehayek E, Ananthanarayanan M, Shneider BL, et al. 2001. Nat. Genet. 27:375-82
180. Lavery DJ, Schibler U. 1993. Genes Dev. 7:1871-84
181. Mitsui S, Yamaguchi S, Matsuo T, Ishida Y, Okamura H. 2001. Genes Dev. 15:995-1006
182. Ripperger JA, Shearman LP, Reppert SM, Schibler U. 2000. Genes Dev. 14:679-89
183. Rutter J, Reick M, McKnight SL. 2002. Annu. Rev. Biochem. 71:307-31
184. Gupta S, Stravitz RT, Dent P, Hylemon PB. 2001. J. Biol. Chem. 276:15816-22
185. Miyake JH, Wang S-L, Davis RA. 2000. J. Biol. Chem. 75:21805-8
186. Yu C, Wang F, Kan M, Jin C, Jones RB, et al. 2000. J. Biol. Chem. 275:15482-89
187. Natl. Cent. Biotechnol. Inf. 2002. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/omim/
188. Cali JJ, Hsieh C, Francke U, Russell DW. 1991. J. Biol. Chem. 266:7779-83
189. Lee M-H, Hazard S, Carpten JD, Yi S, Cohen J, et al. 2001. J. Lipid Res. 42:159-69
190. Setchell KDR, Schwarz M, O'Connell NC, Lund EG, Davis DL, et al. 1998. J. Clin. Investig. 102:1690-703
191. Clayton PT, Leonard JV, Lawson AM, Setchell KD, Andersson S, et al. 1987. J. Clin. Investig. 79:1031-38
192. Setchell KD, Suchy FJ, Welsh MB, Zimmer-Nechemias L, Heubi J, Balistreri WF. 1988. J. Clin. Investig. 82:2148-57
193. Onishi Y, Noshiro M, Shimosato T, Okuda K. 1991. FEBS Lett. 283:215-18
194. Russell DW, Wilson JD. 1994. Annu. Rev. Biochem. 63:25-61
195. Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, et al. 2000. Nat. Genet. 24:188-91
196. Haslewood GAD. 1967. J. Lipid Res. 8:535-50
197. Wanders RJA, Jakobs C, Skjeldal OH. 2000. See Ref. 59, II:3303-21
198. Setchell KDR, Heubi JE, Bove KE, O'Connell NC, Brewsaugh T, et al. 2003. Gastroenterology 124:217-32
199. Watkins PA, Chen WW, Harris CJ, Hoefler G, Hoefler S, et al. 1989. J. Clin. Investig. 83:771-77
200. Suzuki Y, Jiang LL, Souri M, Miyazawa S, Fukuda S, et al. 1997. Am. J. Hum. Genet. 61:1153-62
201. Une M, Konishi M, Suzuki Y, Akaboshi S, Yoshii M, et al. 1997. J. Biochem. 122:655-58
202. Dieuaide-Noubhani M, Novikov D, Baumgart E, Vanhooren JC, Fransen M, et al. 1996. Eur. J. Biochem. 240:660-66
203. van Grunsven EG, van Berkel E, Ijlst L, Vreken P, de Klerk JBC, et al. 1998. Proc. Natl. Acad. Sci. USA 95:2128-33
204. van Grunsven EG, van Berkel E, Mooijer PAW, Watkins PA, Moser HW, et al. 1999. Am. J. Hum. Genet. 64:99-107
205. Nelson DR, Koymans L, Kamataki T, Stegeman JJ, Feyereisen R, et al. 1996. Pharmacogenetics 6:1-42