The bile salt export pump (BSEP) in health and disease

Clinics and Research in Hepatology and Gastroenterology

Volumn 36, Issue 6, 2012, Pages 536-553

  Kubitz, Ralf ^a   Dröge, Carola ^a   Stindt, Jan ^a   Weissenberger, Katrin ^a   Häussinger, Dieter ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

4 PHENYLBUTYRIC ACID; BILE ACID; BILE SALT EXPORT PUMP; CARRIER PROTEIN; CHOLESTEROL 7ALPHA MONOOXYGENASE; COLESTYRAMINE; CYCLOSPORIN A; DEXAMETHASONE; GUGGULSTERONE; HEAT SHOCK PROTEIN 70; LIPOPOLYSACCHARIDE; MESSENGER RNA; MULTIDRUG RESISTANCE PROTEIN 2; MULTIDRUG RESISTANCE PROTEIN 3; MULTIDRUG RESISTANCE PROTEIN 4; PHENOBARBITAL; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE C; REACTIVE OXYGEN METABOLITE; RIFAMPICIN; RITONAVIR; SCOPARONE; SIMVASTATIN; TAUROCHOLIC ACID; TAURODEOXYCHOLIC ACID; TAUROLITHOCHOLIC ACID; UNCLASSIFIED DRUG; UNINDEXED DRUG; URSODEOXYCHOLIC ACID; VITAMIN D; VITAMIN K GROUP;

BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS; BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS TYPE 2; BILE; BILE SECRETION; CHOLESTASIS; DISEASE SEVERITY; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; INTRAHEPATIC CHOLESTASIS; INTRAHEPATIC CHOLESTASIS OF PREGNANCY; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PATHOPHYSIOLOGY; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 1; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PRURITUS; REGULATORY MECHANISM; SHORT SURVEY; TOXIC HEPATITIS; TREATMENT INDICATION;

ATP-BINDING CASSETTE TRANSPORTERS; CHOLESTASIS, INTRAHEPATIC; HUMANS; LIVER DISEASES;

EID: 84870388185     PISSN: 22107401     EISSN: 2210741X     Source Type: Journal    
DOI: 10.1016/j.clinre.2012.06.006     Document Type: Short Survey

References (229)

1. Admirand W.H., Small D.M. The physicochemical basis of cholesterol gallstone formation in man. J Clin Invest 1968, 47:1043-1052.
2. Koopen N.R., Wolters H., Muller M., Schippers I.J., Havinga R., Roelofsen H., et al. Hepatic bile salt flux does not modulate level and activity of the sinusoidal Na+ -taurocholate cotransporter (Ntcp) in rats. J Hepatol 1997, 27:699-706.
3. Hagenbuch B., Meier P.J. The superfamily of organic anion transporting polypeptides. Biochim Biophys Acta 2003, 1609:1-18.
4. Ballatori N., Christian W.V., Lee J.Y., Dawson P.A., Soroka C.J., Boyer J.L., et al. OSTalpha-OSTbeta: a major basolateral bile acid and steroid transporter in human intestinal, renal, and biliary epithelia. Hepatology 2005, 42:1270-1279.
5. Rius M., Nies A.T., Hummel-Eisenbeiss J., Jedlitschky G., Keppler D. Cotransport of reduced glutathione with bile salts by MRP4 (ABCC4) localized to the basolateral hepatocyte membrane. Hepatology 2003, 38:374-384.
6. Rius M., Hummel-Eisenbeiss J., Hofmann A.F., Keppler D. Substrate specificity of human ABCC4 (MRP4)-mediated cotransport of bile acids and reduced glutathione. Am J Physiol Gastrointest Liver Physiol 2006, 290:G640-G649.
7. Trauner M., Boyer J.L. Bile salt transporters: molecular characterization, function, and regulation. Physiol Rev 2003, 83:633-671.
8. Häussinger D., Schmitt M., Weiergräber O., Kubitz R. Short-term regulation of canalicular transport. Semin Liver Dis 2000, 20:307-321.
9. Häussinger D., Kubitz R., Reinehr R., Bode J.G., Schliess F. Molecular aspects of medicine: from experimental to clinical hepatology. Mol Aspects Med 2004, 25:221-360.
10. Huang W., Ma K., Zhang J., Qatanani M., Cuvillier J., Liu J., et al. Nuclear receptor-dependent bile acid signaling is required for normal liver regeneration. Science 2006, 312:233-236.
11. Thomas C., Gioiello A., Noriega L., Strehle A., Oury J., Rizzo G., et al. TGR5-mediated bile acid sensing controls glucose homeostasis. Cell Metab 2009, 10:167-177.
12. Watanabe M., Houten S.M., Mataki C., Christoffolete M.A., Kim B.W., Sato H., et al. Bile acids induce energy expenditure by promoting intracellular thyroid hormone activation. Nature 2006, 439:484-489.
13. Pols T.W., Nomura M., Harach T., Lo S.G., Oosterveer M.H., Thomas C., et al. TGR5 activation inhibits atherosclerosis by reducing macrophage inflammation and lipid loading. Cell Metab 2011, 14:747-757.
14. Bernstein H., Bernstein C., Payne C.M., Dvorak K. Bile acids as endogenous etiologic agents in gastrointestinal cancer. World J Gastroenterol 2009, 15:3329-3340.
15. Perez M.J., Briz O. Bile acid induced cell injury protection. World J Gastroenterol 2009, 15:1677-1689.
16. Reinehr R., Graf D., Häussinger D. Bile salt-induced hepatocyte apoptosis involves epidermal growth factor receptor-dependent CD95 tyrosine phosphorylation. Gastroenterology 2003, 125:839-853.
17. Strautnieks S.S., Kagalwalla A.F., Tanner M.S., Knisely A.S., Bull L., Freimer N., et al. Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. Am J Hum Genet 1997, 61:630-633.
18. Stieger B. Recent insights into the function and regulation of the bile salt export pump (ABCB11). Curr Opin Lipidol 2009, 20:176-181.
19. Hayashi H., Takada T., Suzuki H., Onuki R., Hofmann A.F., Sugiyama Y. Transport by vesicles of glycine- and taurine-conjugated bile salts and taurolithocholate 3 sulfate: a comparison of human BSEP with rat Bsep. Biochim Biophys Acta 2005, 1738:54-62.
20. Song P., Zhang Y., Klaassen C.D. Dose-response of five bile acids on serum and liver bile acid concentrations and hepatotoxicty in mice. Toxicol Sci 2011, 123:359-367.
21. Kipp H., Arias I.M. Newly synthesized canalicular ABC transporters are directly targeted from the Golgi to the hepatocyte apical domain in rat liver. J Biol Chem 2000, 275:15917-15925.
22. Soroka C.J., Pate M.K., Boyer J.L. Canalicular export pumps traffic with polymeric immunoglobulin A receptor on the same microtubule-associated vesicle in rat liver. J Biol Chem 1999, 274:26416-26424.
23. Keitel V., Burdelski M., Vojnisek Z., Schmitt L., Häussinger D., Kubitz R. De novo bile salt transporter antibodies as a possible cause of recurrent graft failure after liver transplantation: a novel mechanism of cholestasis. Hepatology 2009, 50:510-517.
24. Kubitz R., Sutfels G., Kuhlkamp T., Kolling R., Haussinger D. Trafficking of the bile salt export pump from the Golgi to the canalicular membrane is regulated by the p38 MAP kinase. Gastroenterology 2004, 126:541-553.
25. Beuers U., Bilzer M., Chittattu A., Kullak-Ublick G.A., Keppler D., Paumgartner G., et al. Tauroursodeoxycholic acid inserts the apical conjugate export pump, Mrp2, into canalicular membranes and stimulates organic anion secretion by protein kinase C-dependent mechanisms in cholestatic rat liver. Hepatology 2001, 33:1206-1216.
26. Kurz A.K., Graf D., Schmitt M., vom Dahl S., Häussinger D. Tauroursodesoxycholate-induced choleresis involves p38(MAPK) activation and translocation of the bile salt export pump in rats. Gastroenterology 2001, 121:407-419.
27. Ortiz D.F., Moseley J., Calderon G., Swift A.L., Li S., Arias I.M. Identification of HAX-1 as a protein that binds bile salt export protein and regulates its abundance in the apical membrane of Madin-Darby canine kidney cells. J Biol Chem 2004, 279:32761-32770.
28. Cantore M., Reinehr R., Sommerfeld A., Becker M., Häussinger D. The Src Family Kinase Fyn Mediates Hyperosmolarity-induced Mrp2 and Bsep Retrieval from Canalicular Membrane. J Biol Chem 2011, 286:45014-45029.
29. Lam P., Xu S., Soroka C.J., Boyer J.L. A c-terminal tyrosine-based motif in the bile salt export pump directs clathrin-dependent endocytosis. Hepatology 2012, 55:1901-1911.
30. Hayashi H., Inamura K., Aida K., Naoi S., Horikawa R., Nagasaka H., et al. AP2 mediates BSEP internalization and modulates its hepatocanalicular expression and transport function. Hepatology 2012, 55:1889-1900.
31. McNiven M.A., Kim L., Krueger E.W., Orth J.D., Cao H., Wong T.W. Regulated interactions between dynamin and the actin-binding protein cortactin modulate cell shape. J Cell Biol 2000, 151:187-198.
32. Chan H., Babayan V., Blyumin E., Gandhi C., Hak K., Harake D., et al. The p-type ATPase superfamily. J Mol Microbiol Biotechnol 2010, 19:5-104.
33. Ujhazy P., Ortiz D., Misra S., Li S., Moseley J., Jones H., et al. Familial intrahepatic cholestasis 1: studies of localization and function. Hepatology 2001, 34:768-775.
34. Paulusma C.C., Groen A., Kunne C., Ho-Mok K.S., Spijkerboer A.L., Rudi de W.D., et al. Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. Hepatology 2006, 44:195-204.
35. Cai S.Y., Gautam S., Nguyen T., Soroka C.J., Rahner C., Boyer J.L. ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. Gastroenterology 2009, 136:1060-1069.
36. Stross C., Keitel V., Winands E., Häussinger D., Kubitz R. Expression and localization of atypical PKC isoforms in liver parenchymal cells. Biol Chem 2009, 390:235-244.
37. Chen F., Ellis E., Strom S.C., Shneider B.L., ATPase Class I Type 8B Member 1 and protein kinase C zeta induce the expression of the canalicular bile salt export pump in human hepatocytes. Pediatr Res 2010, 67:183-187.
38. van Mil S.W., Klomp L.W., Bull L.N., Houwen R.H. FIC1 disease: a spectrum of intrahepatic cholestatic disorders. Semin Liver Dis 2001, 21:535-544.
39. Pawlikowska L., Strautnieks S., Jankowska I., Czubkowski P., Emerick K., Antoniou A., et al. Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol 2010, 53:170-178.
40. Paulusma C.C., De Waart D.R., Kunne C., Mok K.S., Elferink R.P. Activity of the bile salt export pump (ABCB11) is critically dependent on canalicular membrane cholesterol content. J Biol Chem 2009, 284:9947-9954.
41. Kis E., Ioja E., Nagy T., Szente L., Heredi-Szabo K., Krajcsi P. Effect of membrane cholesterol on BSEP/Bsep activity: species specificity studies for substrates and inhibitors. Drug Metab Dispos 2009, 37:1878-1886.
42. Kolouchova G., Brcakova E., Hirsova P., Sispera L., Tomsik P., Cermanova J., et al. Pravastatin modulates liver bile acid and cholesterol homeostasis in rats with chronic cholestasis. J Gastroenterol Hepatol 2011, 26:1544-1551.
43. Ananthanarayanan M., Balasubramanian N., Makishima M., Mangelsdorf D.J., Suchy F.J. Human bile salt export pump promoter is transactivated by the farnesoid X receptor/bile acid receptor. J Biol Chem 2001, 276:28857-28865.
44. Plass J.R., Mol O., Heegsma J., Geuken M., Faber K.N., Jansen P.L., et al. Farnesoid X receptor and bile salts are involved in transcriptional regulation of the gene encoding the human bile salt export pump. Hepatology 2002, 35:589-596.
45. Gerloff T., Geier A., Roots I., Meier P.J., Gartung C. Functional analysis of the rat bile salt export pump gene promoter. Eur J Biochem 2002, 269:3495-3503.
46. Sinal C.J., Tohkin M., Miyata M., Ward J.M., Lambert G., Gonzalez F.J. Targeted disruption of the nuclear receptor FXR/BAR impairs bile acid and lipid homeostasis. Cell 2000, 102:731-744.
47. Parks D.J., Blanchard S.G., Bledsoe R.K., Chandra G., Consler T.G., Kliewer S.A., et al. Bile acids: natural ligands for an orphan nuclear receptor. Science 1999, 284:1365-1368.
48. Makishima M., Okamoto A.Y., Repa J.J., Tu H., Learned R.M., Luk A., et al. Identification of a nuclear receptor for bile acids. Science 1999, 284:1362-1365.
49. Ananthanarayanan M., Li Y., Surapureddi S., Balasubramaniyan N., Ahn J., Goldstein J.A., et al. Histone H3K4 trimethylation by MLL3 as part of ASCOM complex is critical for NR activation of bile acid transporter genes and is downregulated in cholestasis. Am J Physiol Gastrointest Liver Physiol 2011, 300:G771-G781.
50. Lew J.L., Zhao A., Yu J., Huang L., De Pedro N., Pelaez F., et al. The farnesoid X receptor controls gene expression in a ligand- and promoter-selective fashion. J Biol Chem 2004, 279:8856-8861.
51. Yu J., Lo J.L., Huang L., Zhao A., Metzger E., Adams A., et al. Lithocholic acid decreases expression of bile salt export pump through farnesoid X receptor antagonist activity. J Biol Chem 2002, 277:31441-31447.
52. Chopra A.R., Kommagani R., Saha P., Louet J.F., Salazar C., Song J., et al. Cellular energy depletion resets whole-body energy by promoting coactivator-mediated dietary fuel absorption. Cell Metab 2011, 13:35-43.
53. Ferre P., Foufelle F. A new role for a metabolic star: AMP activated protein kinase stimulates fat absorption. Cell Metab 2011, 13:1-2.
54. Wansa K.D., Harris J.M., Muscat G.E. The activation function-1 domain of Nur77/NR4A1 mediates transactivation, cell specificity, and coactivator recruitment. J Biol Chem 2002, 277:33001-33011.
55. Lee W.Y., Noy N. Interactions of RXR with coactivators are differentially mediated by helix 11 of the receptor's ligand binding domain. Biochemistry 2002, 41:2500-2508.
56. Hartig S.M., He B., Long W., Buehrer B.M., Mancini M.A. Homeostatic levels of SRC-2 and SRC-3 promote early human adipogenesis. J Cell Biol 2011, 192:55-67.
57. Woods A., Heslegrave A.J., Muckett P.J., Levene A.P., Clements M., Mobberley M., et al. LKB1 is required for hepatic bile acid transport and canalicular membrane integrity in mice. Biochem J 2011, 434:49-60.
58. Wagner M., Fickert P., Zollner G., Fuchsbichler A., Silbert D., Tsybrovskyy O., et al. Role of farnesoid X receptor in determining hepatic ABC transporter expression and liver injury in bile duct-ligated mice. Gastroenterology 2003, 125:825-838.
59. Stedman C., Liddle C., Coulter S., Sonoda J., Alvarez J.G., Evans R.M., et al. Benefit of farnesoid X receptor inhibition in obstructive cholestasis. Proc Natl Acad Sci U S A 2006, 103:11323-11328.
60. Keitel V., Burdelski M., Warskulat U., Kühlkamp T., Keppler D., Häussinger D., et al. Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis. Hepatology 2005, 41:1160-1172.
61. Liu Y., Binz J., Numerick M.J., Dennis S., Luo G., Desai B., et al. Hepatoprotection by the farnesoid X receptor agonist GW4064 in rat models of intra- and extrahepatic cholestasis. J Clin Invest 2003, 112:1678-1687.
62. Carter B.A., Taylor O.A., Prendergast D.R., Zimmerman T.L., Von F.R., Moore D.D., et al. Stigmasterol, a soy lipid-derived phytosterol, is an antagonist of the bile acid nuclear receptor FXR. Pediatr Res 2007, 62:301-306.
63. Cui Y.J., Aleksunes L.M., Tanaka Y., Goedken M.J., Klaassen C.D. Compensatory induction of liver efflux transporters in response to ANIT-induced liver injury is impaired in FXR-null mice. Toxicol Sci 2009, 110:47-60.
64. Song X., Kaimal R., Yan B., Deng R. Liver receptor homolog 1 transcriptionally regulates human bile salt export pump expression. J Lipid Res 2008, 49:973-984.
65. Mataki C., Magnier B.C., Houten S.M., Annicotte J.S., Argmann C., Thomas C., et al. Compromised intestinal lipid absorption in mice with a liver-specific deficiency of liver receptor homolog 1. Mol Cell Biol 2007, 27:8330-8339.
66. Weerachayaphorn J., Cai S.Y., Soroka C.J., Boyer J.L. Nuclear factor erythroid 2-related factor 2 is a positive regulator of human bile salt export pump expression. Hepatology 2009, 50:1588-1596.
67. Maher J.M., Dieter M.Z., Aleksunes L.M., Slitt A.L., Guo G., Tanaka Y., et al. Oxidative and electrophilic stress induces multidrug resistance associated protein transporters via the nuclear factor E2-related factor 2 transcriptional pathway. Hepatology 2007, 46:1597-1610.
68. Okada K., Shoda J., Taguchi K., Maher J.M., Ishizaki K., Inoue Y., et al. Ursodeoxycholic acid stimulates Nrf2-mediated hepatocellular transport, detoxification, and antioxidative stress systems in mice. Am J Physiol Gastrointest Liver Physiol 2008, 295:G735-G747.
69. Klaassen C.D., Reisman S.A. Nrf2 the rescue: effects of the antioxidative/electrophilic response on the liver. Toxicol Appl Pharmacol 2010, 244:57-65.
70. Taguchi K., Motohashi H., Yamamoto M. Molecular mechanisms of the Keap1-Nrf2 pathway in stress response and cancer evolution. Genes Cells 2011, 16:123-140.
71. Tan K.P., Yang M., Ito S. Activation of nuclear factor (erythroid-2 like) factor 2 by toxic bile acids provokes adaptive defense responses to enhance cell survival at the emergence of oxidative stress. Mol Pharmacol 2007, 72:1380-1390.
72. Maher J.M., Aleksunes L.M., Dieter M.Z., Tanaka Y., Peters J.M., Manautou J.E., et al. Nrf2- and PPAR alpha-mediated regulation of hepatic Mrp transporters after exposure to perfluorooctanoic acid and perfluorodecanoic acid. Toxicol Sci 2008, 106:319-328.
73. Gerloff T., Geier A., Stieger B., Hagenbuch B., Meier P.J., Matern S., et al. Differential expression of basolateral and canalicular organic anion transporters during regeneration of rat liver. Gastroenterology 1999, 117:1408-1415.
74. Green R.M., Gollan J.L., Hagenbuch B., Meier P.J., Beier D.R. Regulation of hepatocyte bile salt transporters during hepatic regeneration. Am J Physiol 1997, 273:G621-G627.
75. Miura T., Kimura N., Yamada T., Shimizu T., Nanashima N., Yamana D., et al. Sustained repression and translocation of Ntcp and expression of Mrp4 for cholestasis after rat 90% partial hepatectomy. J Hepatol 2011, 55:407-414.
76. Vos T.A., Ros J.E., Havinga R., Moshage H., Kuipers F., Jansen P.L., et al. Regulation of hepatic transport systems involved in bile secretion during liver regeneration in rats. Hepatology 1999, 29:1833-1839.
77. Csanaky I.L., Aleksunes L.M., Tanaka Y., Klaassen C.D. Role of hepatic transporters in prevention of bile acid toxicity after partial hepatectomy in mice. Am J Physiol Gastrointest Liver Physiol 2009, 297:G419-G433.
78. Kubitz R., Helmer A., Häussinger D. Biliary transport systems: short-term regulation. Methods Enzymol 2005, 400:542-557.
79. Schmitt M., Kubitz R., Lizun S., Wettstein M., Häussinger D. Regulation of the dynamic localization of the rat Bsep gene encoded bile salt export pump by anisoosmolarity. Hepatology 2001, 33:509-518.
80. Crocenzi F.A., Mottino A.D., Cao J., Veggi L.M., Pozzi E.J., Vore M., et al. Estradiol-17beta-D-glucuronide induces endocytic internalization of Bsep in rats. Am J Physiol Gastrointest Liver Physiol 2003, 285:G449-G459.
81. Crocenzi F.A., Mottino A.D., Sanchez Pozzi E.J., Pellegrino J.M., Rodriguez Garay E.A., Milkiewicz P., et al. Impaired localisation and transport function of canalicular Bsep in taurolithocholate induced cholestasis in the rat. Gut 2003, 52:1170-1177.
82. Dombrowski F., Stieger B., Beuers U. Tauroursodeoxycholic acid inserts the bile salt export pump into canalicular membranes of cholestatic rat liver. Lab Invest 2006, 86:166-174.
83. Perez L.M., Milkiewicz P., Elias E., Coleman R., Sanchez Pozzi E.J., Roma M.G. Oxidative stress induces internalization of the bile salt export pump, Bsep, and bile salt secretory failure in isolated rat hepatocyte couplets: a role for protein kinase C and prevention by protein kinase A. Toxicol Sci 2006, 91:150-158.
84. Hallbrucker C., Lang F., Gerok W., Häussinger D. Cell swelling increases bile flow and taurocholate excretion into bile in isolated perfused rat liver. Biochem J 1992, 281(Pt 3):593-595.
85. Häussinger D., Hallbrucker C., Saha N., Lang F., Gerok W. Cell volume and bile acid excretion. Biochem J 1992, 288(Pt 2):681-689.
86. Häussinger D., Saha N., Hallbrucker C., Lang F., Gerok W. Involvement of microtubules in the swelling-induced stimulation of transcellular taurocholate transport in perfused rat liver. Biochem J 1993, 291(Pt 2):355-360.
87. Kubitz R., D' Urso D., Keppler D., Häussinger D. Osmodependent dynamic localization of the multidrug resistance protein 2 in the rat hepatocyte canalicular membrane. Gastroenterology 1997, 113:1438-1442.
88. Dombrowski F., Kubitz R., Chittattu A., Wettstein M., Saha N., Häussinger D. Electron-microscopic demonstration of multidrug resistance protein 2 (Mrp2) retrieval from the canalicular membrane in response to hyperosmolarity and lipopolysaccharide. Biochem J 2000, 348(Pt 1):183-188.
89. Kubitz R., Wettstein M., Warskulat U., Häussinger D. Regulation of the multidrug resistance protein 2 in the rat liver by lipopolysaccharide and dexamethasone. Gastroenterology 1999, 116:401-410.
90. Schmitt M., Kubitz R., Wettstein M., vom Dahl S., Häussinger D. Retrieval of the mrp2 gene encoded conjugate export pump from the canalicular membrane contributes to cholestasis-induced by tert-butyl hydroperoxide and chloro-dinitrobenzene. Biol Chem 2000, 381:487-495.
91. Guyot C., Stieger B. Interaction of bile salts with rat canalicular membrane vesicles: evidence for bile salt resistant microdomains. J Hepatol 2011, 55:1368-1376.
92. Kikuchi S., Hata M., Fukumoto K., Yamane Y., Matsui T., Tamura A., et al. Radixin deficiency causes conjugated hyperbilirubinemia with loss of Mrp2 from bile canalicular membranes. Nat Genet 2002, 31:320-325.
93. Noé J., Hagenbuch B., Meier P.J., St Pierre M.V. Characterization of the mouse bile salt export pump overexpressed in the baculovirus system. Hepatology 2001, 33:1223-1231.
94. Hayashi H., Sugiyama Y. Short-chain ubiquitination is associated with the degradation rate of a cell surface resident bile salt export pump (BSEP/ABCB11). Mol Pharmacol 2009, 75:143-150.
95. Häussinger D., Kurz A.K., Wettstein M., Graf D., vom Dahl S., Schliess F. Involvement of integrins and Src in tauroursodeoxycholate-induced and swelling-induced choleresis. Gastroenterology 2003, 124:1476-1487.
96. Schliess F., Reissmann R., Reinehr R., vom D.S., Haussinger D. Involvement of integrins and Src in insulin signaling toward autophagic proteolysis in rat liver. J Biol Chem 2004, 279:21294-21301.
97. vom Dahl S., Schliess F., Reissmann R., Gorg B., Weiergraber O., Kocalkova M., et al. Involvement of integrins in osmosensing and signaling toward autophagic proteolysis in rat liver. J Biol Chem 2003, 278:27088-27095.
98. Häussinger D., Reinehr R. Osmotic regulation of bile acid transport, apoptosis and proliferation in rat liver. Cell Physiol Biochem 2011, 28:1089-1098.
99. Beuers U., Throckmorton D.C., Anderson M.S., Isales C.M., Thasler W., Kullak-Ublick G.A., et al. Tauroursodeoxycholic acid activates protein kinase C in isolated rat hepatocytes. Gastroenterology 1996, 110:1553-1563.
100. Beuers U., Probst I., Soroka C., Boyer J.L., Kullak-Ublick G.A., Paumgartner G. Modulation of protein kinase C by taurolithocholic acid in isolated rat hepatocytes. Hepatology 1999, 29:477-482.
101. Kubitz R., Saha N., Kühlkamp T., Dutta S., vom Dahl S., Wettstein M., et al. Ca2+ -dependent protein kinase C isoforms induce cholestasis in rat liver. J Biol Chem 2004, 279:10323-10330.
102. Crocenzi F.A., Sanchez Pozzi E.J., Ruiz M.L., Zucchetti A.E., Roma M.G., Mottino A.D., et al. Ca(2+)-dependent protein kinase C isoforms are critical to estradiol 17beta-D-glucuronide-induced cholestasis in the rat. Hepatology 2008, 48:1885-1895.
103. Boaglio A.C., Zucchetti A.E., Sanchez Pozzi E.J., Pellegrino J.M., Ochoa J.E., Mottino A.D., et al. Phosphoinositide 3-kinase/protein kinase B signaling pathway is involved in estradiol 17beta-D-glucuronide-induced cholestasis: complementarity with classical protein kinase C. Hepatology 2010, 52:1465-1476.
104. Kruglov E.A., Gautam S., Guerra M.T., Nathanson M.H. Type 2 inositol 1,4,5-trisphosphate receptor modulates bile salt export pump activity in rat hepatocytes. Hepatology 2011, 54:1790-1799.
105. Byrne J.A., Strautnieks S.S., Mieli-Vergani G., Higgins C.F., Linton K.J., Thompson R.J. The human bile salt export pump: characterization of substrate specificity and identification of inhibitors. Gastroenterology 2002, 123:1649-1658.
106. Stieger B. The role of the sodium-taurocholate cotransporting polypeptide (NTCP) and of the bile salt export pump (BSEP) in physiology and pathophysiology of bile formation. Handb Exp Pharmacol 2011, 205-259.
107. Dawson S., Stahl S., Paul N., Barber J., Kenna J.G. In vitro inhibition of the bile salt export pump correlates with risk of cholestatic drug-induced liver injury in humans. Drug Metab Dispos 2012, 40:130-138.
108. Ogimura E., Sekine S., Horie T. Bile salt export pump inhibitors are associated with bile acid-dependent drug-induced toxicity in sandwich-cultured hepatocytes. Biochem Biophys Res Commun 2011, 416:313-317.
109. Kis E., Ioja E., Rajnai Z., Jani M., Mehn D., Heredi-Szabo K., et al. BSEP inhibition - In vitro screens to assess cholestatic potential of drugs. Toxicol In Vitro 2011 Nov 18, [Epub ahead of print].
110. Stepan A.F., Walker D.P., Bauman J., Price D.A., Baillie T.A., Kalgutkar A.S., et al. Structural alert/reactive metabolite concept as applied in medicinal chemistry to mitigate the risk of idiosyncratic drug toxicity: a perspective based on the critical examination of trends in the top 200 drugs marketed in the United States. Chem Res Toxicol 2011, 24:1345-1410.
111. Yang D., Yang J., Shi D., Xiao D., Chen Y.T., Black C., et al. Hypolipidemic agent Z-guggulsterone: metabolism interplays with induction of cholesteryl ester hydrolase ces1 and bile salt export pump. J Lipid Res 2012, 53:529-539.
112. Yang D., Yang J., Shi D., Deng R., Yan B. Scoparone potentiates transactivation of the bile salt export pump gene and this effect is enhanced by cytochrome P450 metabolism but abolished by a PKC inhibitor. Br J Pharmacol 2011, 164:1547-1557.
113. Ballow M., Margolis C.Z., Schachtel B., Hsia Y.E. Progressive familial intrahepatic cholestasis. Pediatrics 1973, 51:998-1007.
114. Knisely A.S. Progressive familial intrahepatic cholestasis: a personal perspective. Pediatr Dev Pathol 2000, 3:113-125.
115. Clayton R.J., Iber F.L., Ruebner B.H., McKusick V.A. Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. Am J Dis Child 1969, 117:112-124.
116. Bull L.N., Carlton V.E., Stricker N.L., Baharloo S., DeYoung J.A., Freimer N.B., et al. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology 1997, 26:155-164.
117. Bull L.N., van Eijk M.J., Pawlikowska L., DeYoung J.A., Juijn J.A., Liao M., et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998, 18:219-224.
118. Klomp L.W., Vargas J.C., van Mil S.W., Pawlikowska L., Strautnieks S.S., van Eijk M.J., et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology 2004, 40:27-38.
119. Bourke B., Goggin N., Walsh D., Kennedy S., Setchell K.D., Drumm B. Byler-like familial cholestasis in an extended kindred. Arch Dis Child 1996, 75:223-227.
120. Jacquemin E. Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases. Semin Liver Dis 2001, 21:551-562.
121. Davit-Spraul A., Gonzales E., Baussan C., Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis 2009, 4:1.
122. Whitington P.F., Freese D.K., Alonso E.M., Schwarzenberg S.J., Sharp H.L. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994, 18:134-141.
123. Knisely A.S., Strautnieks S.S., Meier Y., Stieger B., Byrne J.A., Portmann B.C., et al. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology 2006, 44:478-486.
124. Knisely A.S., Portmann B.C. Deficiency of BSEP in PFIC with hepatocellular malignancy. Pediatr Transplant 2006, 10:644-645.
125. Romano F., Stroppa P., Bravi M., Casotti V., Lucianetti A., Guizzetti M., et al. Favorable outcome of primary liver transplantation in children with cirrhosis and hepatocellular carcinoma. Pediatr Transplant 2011, 15:573-579.
126. Strautnieks S.S., Byrne J.A., Pawlikowska L., Cebecauerova D., Rayner A., Dutton L., et al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology 2008, 134:1203-1214.
127. Wadsworth C.A., Dixon P.H., Wong J.H., Chapman M.H., McKay S.C., Sharif A., et al. Genetic factors in the pathogenesis of cholangiocarcinoma. Dig Dis 2011, 29:93-97.
128. Bass L.M., Patil D., Rao M.S., Green R.M., Whitington P.F. Pancreatic adenocarcinoma in type 2 progressive familial intrahepatic cholestasis. BMC Gastroenterol 2010, 10:30.
129. Jansen P.L., Strautnieks S.S., Jacquemin E., Hadchouel M., Sokal E.M., Hooiveld G.J., et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology 1999, 117:1370-1379.
130. Wang L., Soroka C.J., Boyer J.L. The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II. J Clin Invest 2002, 110:965-972.
131. Evason K., Bove K.E., Finegold M.J., Knisely A.S., Rhee S., Rosenthal P., et al. Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies. Am J Surg Pathol 2011, 35:687-696.
132. Byrne J.A., Strautnieks S.S., Ihrke G., Pagani F., Knisely A.S., Linton K.J., et al. Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt premessenger RNA splicing. Hepatology 2009, 49:553-567.
133. Schubert U., Anton L.C., Gibbs J., Norbury C.C., Yewdell J.W., Bennink J.R. Rapid degradation of a large fraction of newly synthesized proteins by proteasomes. Nature 2000, 404:770-774.
134. Hayashi H., Sugiyama Y. 4-phenylbutyrate enhances the cell surface expression and the transport capacity of wildtype and mutated bile salt export pumps. Hepatology 2007, 45:1506-1516.
135. Mosesson Y., Yarden Y. Monoubiquitylation: a recurrent theme in membrane protein transport. Isr Med Assoc J 2006, 8:233-237.
136. d'Azzo A., Bongiovanni A., Nastasi T. E3 ubiquitin ligases as regulators of membrane protein trafficking and degradation. Traffic 2005, 6:429-441.
137. van Mil S.W., Van Der Woerd W.L., Van Der B.G., Sturm E., Jansen P.L., Bull L.N., et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 2004, 127:379-384.
138. Brenard R., Geubel A.P., Benhamou J.P. Benign recurrent intrahepatic cholestasis. A report of 26 cases. J Clin Gastroenterol 1989, 11:546-551.
139. Tygstrup N., Steig B.A., Juijn J.A., Bull L.N., Houwen R.H. Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. Hepatology 1999, 29:506-508.
140. Kubitz R., Keitel V., Scheuring S., Köhrer K., Häussinger D. Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump. J Clin Gastroenterol 2006, 40:171-175.
141. Chen H.L., Liu Y.J., Su Y.N., Wang N.Y., Wu S.H., Ni Y.H., et al. Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography. J Pediatr 2008, 153:825-832.
142. Noe J., Kullak-Ublick G.A., Jochum W., Stieger B., Kerb R., Haberl M., et al. Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. J Hepatol 2005, 43:536-543.
143. Lam C.W., Cheung K.M., Tsui M.S., Yan M.S., Lee C.Y., Tong S.F. A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. J Hepatol 2006, 44:240-242.
144. Lam P., Pearson C.L., Soroka C.J., Xu S., Mennone A., Boyer J.L. Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. Am J Physiol Cell Physiol 2007, 293:C1709-C1716.
145. Rioseco A.J., Ivankovic M.B., Manzur A., Hamed F., Kato S.R., Parer J.T., et al. Intrahepatic cholestasis of pregnancy: a retrospective case-control study of perinatal outcome. Am J Obstet Gynecol 1994, 170:890-895.
146. Lammert F., Marschall H.U., Glantz A., Matern S. Intrahepatic cholestasis of pregnancy: molecular pathogenesis, diagnosis and management. J Hepatol 2000, 33:1012-1021.
147. Glantz A., Marschall H.U., Mattsson L.A. Intrahepatic cholestasis of pregnancy: relationships between bile acid levels and fetal complication rates. Hepatology 2004, 40:467-474.
148. Bacq Y., Sapey T., Brechot M.C., Pierre F., Fignon A., Dubois F. Intrahepatic cholestasis of pregnancy: a French prospective study. Hepatology 1997, 26:358-364.
149. Kubitz R., Bode J., Erhardt A., Graf D., Kircheis G., Muller-Stover I., et al. Cholestatic liver diseases from child to adult: the diversity of MDR3 disease. Z Gastroenterol 2011, 49:728-736.
150. Dixon P.H., van M.S., Chambers J., Strautnieks S., Thompson R., Lammert F., et al. Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy. Gut 2009, 58:537-544.
151. Chong C.P., Mills P.B., McClean P., Gissen P., Bruce C., Stahlschmidt J., et al. Bile acid-CoA ligase deficiency: a new inborn error of bile acid metabolism. J Inherit Metab Dis 2012, 35:521-530.
152. Pauli-Magnus C., Lang T., Meier Y., Zodan-Marin T., Jung D., Breymann C., et al. Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. Pharmacogenetics 2004, 14:91-102.
153. Meier Y., Zodan T., Lang C., Zimmermann R., Kullak-Ublick G.A., Meier P.J., et al. Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump. World J Gastroenterol 2008, 14:38-45.
154. Stieger B., Fattinger K., Madon J., Kullak-Ublick G.A., Meier P.J. Drug- and estrogen-induced cholestasis through inhibition of the hepatocellular bile salt export pump (Bsep) of rat liver. Gastroenterology 2000, 118:422-430.
155. Green R.M., Hoda F., Ward K.L. Molecular cloning and characterization of the murine bile salt export pump. Gene 2000, 241:117-123.
156. Meng L.J., Reyes H., Axelson M., Palma J., Hernandez I., Ribalta J., et al. Progesterone metabolites and bile acids in serum of patients with intrahepatic cholestasis of pregnancy: effect of ursodeoxycholic acid therapy. Hepatology 1997, 26:1573-1579.
157. Meng L.J., Reyes H., Palma J., Hernandez I., Ribalta J., Sjovall J. Profiles of bile acids and progesterone metabolites in the urine and serum of women with intrahepatic cholestasis of pregnancy. J Hepatol 1997, 27:346-357.
158. Vallejo M., Briz O., Serrano M.A., Monte M.J., Marin J.J. Potential role of transinhibition of the bile salt export pump by progesterone metabolites in the etiopathogenesis of intrahepatic cholestasis of pregnancy. J Hepatol 2006, 44:1150-1157.
159. Jara P., Hierro L., Martinez-Fernandez P., varez-Doforno R., Yanez F., Diaz M.C., et al. Recurrence of bile salt export pump deficiency after liver transplantation. N Engl J Med 2009, 361:1359-1367.
160. Maggiore G., Gonzales E., Sciveres M., Redon M.J., Grosse B., Stieger B., et al. Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2. J Hepatol 2010, 53:981-986.
161. Basso M.S., Subramaniam P., Tredger M., Verma A., Heaton N., Rela M., et al. Sirolimus as renal and immunological rescue agent in pediatric liver transplant recipients. Pediatr Transplant 2011, 15:722-727.
162. Lang C., Meier Y., Stieger B., Beuers U., Lang T., Kerb R., et al. Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. Pharmacogenet Genomics 2007, 17:47-60.
163. Meier Y., Pauli-Magnus C., Zanger U.M., Klein K., Schaeffeler E., Nussler A.K., et al. Interindividual variability of canalicular ATP binding cassette (ABC)-transporter expression in human liver. Hepatology 2006, 44:62-74.
164. Morgan R.E., Trauner M., van Staden C.J., Lee P.H., Ramachandran B., Eschenberg M., et al. Interference with bile salt export pump function is a susceptibility factor for human liver injury in drug development. Toxicol Sci 2010, 118:485-500.
165. Pauli-Magnus C., Kerb R., Fattinger K., Lang T., Anwald B., Kullak-Ublick G.A., et al. BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis. Hepatology 2004, 39:779-791.
166. Poupon R., Ping C., Chretien Y., Corpechot C., Chazouilleres O., Simon T., et al. Genetic factors of susceptibility and of severity in primary biliary cirrhosis. J Hepatol 2008, 49:1038-1045.
167. Keitel V., Vogt C., Häussinger D., Kubitz R. Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy. Gastroenterology 2006, 131:624-629.
168. Iwata R., Stieger B., Mertens J.C., Muller T., Baur K., Frei P., et al. The role of bile acid retention and a common polymorphism in the ABCB11 gene as host factors affecting antiviral treatment response in chronic hepatitis C. J Viral Hepat 2011, 18:768-778.
169. Kubitz R., Brinkmeyer C., Sagir A., Herebian D., Haussinger D. Genetic variants of the bile salt export pump: inducers and modifiers of liver diseases. Dig Dis 2011, 29:89-92.
170. Ge D., Fellay J., Thompson A.J., Simon J.S., Shianna K.V., Urban T.J., et al. Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. Nature 2009, 461:399-401.
171. Suppiah V., Moldovan M., Ahlenstiel G., Berg T., Weltman M., Abate M.L., et al. IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapy. Nat Genet 2009, 41:1100-1104.
172. Tanaka Y., Nishida N., Sugiyama M., Kurosaki M., Matsuura K., Sakamoto N., et al. Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis C. Nat Genet 2009, 41:1105-1109.
173. Rauch A., Kutalik Z., Descombes P., Cai T., Di I.J., Mueller T., et al. Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study. Gastroenterology 2010, 138:1338-1345.
174. Stieger B., Geier A. Genetic variations of bile salt transporters as predisposing factors for drug-induced cholestasis, intrahepatic cholestasis of pregnancy and therapeutic response of viral hepatitis. Expert Opin Drug Metab Toxicol 2011, 7:411-425.
175. Keitel V., Ullmer C., Häussinger D. The membrane-bound bile acid receptor TGR5 (Gpbar-1) is localized in the primary cilium of cholangiocytes. Biol Chem 2010, 391:785-789.
176. Bernhardt G.A., Zollner G., Cerwenka H., Kornprat P., Fickert P., Bacher H., et al. Hepatobiliary transporter expression and postoperative jaundice in patients undergoing partial hepatectomy. Liver Int 2012, 32:119-127.
177. Vanwijngaerden Y.M., Wauters J., Langouche L., Vander P.S., Liddle C., Coulter S., et al. Critical illness evokes elevated circulating bile acids related to altered hepatic transporter and nuclear receptor expression. Hepatology 2011, 54:1741-1752.
178. Warskulat U., Kubitz R., Wettstein M., Stieger B., Meier P.J., Häussinger D. Regulation of bile salt export pump mRNA levels by dexamethasone and osmolarity in cultured rat hepatocytes. Biol Chem 1999, 380:1273-1279.
179. Trauner M., Arrese M., Lee H., Boyer J.L., Karpen S.J. Endotoxin downregulates rat hepatic Ntcp gene expression via decreased activity of critical transcription factors. J Clin Invest 1998, 101:2092-2100.
180. Hartmann G., Cheung A.K., Piquette-Miller M. Inflammatory cytokines, but not bile acids, regulate expression of murine hepatic anion transporters in endotoxemia. J Pharmacol Exp Ther 2002, 303:273-281.
181. Siewert E., Dietrich C.G., Lammert F., Heinrich P.C., Matern S., Gartung C., et al. Interleukin-6 regulates hepatic transporters during acute-phase response. Biochem Biophys Res Commun 2004, 322:232-238.
182. Donner M.G., Schumacher S., Warskulat U., Heinemann J., Haussinger D. Obstructive cholestasis induces TNF-alpha- and IL-1 -mediated periportal downregulation of Bsep and zonal regulation of Ntcp, Oatp1a4, and Oatp1b2. Am J Physiol Gastrointest Liver Physiol 2007, 293:G1134-G1146.
183. Elferink M.G., Olinga P., Draaisma A.L., Merema M.T., Faber K.N., Slooff M.J., et al. LPS-induced downregulation of MRP2 and BSEP in human liver is due to a posttranscriptional process. Am J Physiol Gastrointest Liver Physiol 2004, 287:G1008-G1016.
184. Zinchuk V., Zinchuk O., Okada T. Experimental LPS-induced cholestasis alters subcellular distribution and affects colocalization of Mrp2 and Bsep proteins: a quantitative colocalization study. Microsc Res Tech 2005, 67:65-70.
185. Mühlfeld A., Kubitz R., Dransfeld O., Häussinger D., Wettstein M. Taurine supplementation induces Mrp2 and Bsep expression in rats and prevents endotoxin-induced cholestasis. Arch Biochem Biophys 2003, 413:32-40.
186. Bolder U., Jeschke M.G., Landmann L., Wolf F., de S.C., Schlitt H.J., et al. Heat stress enhances recovery of hepatocyte bile acid and organic anion transporters in endotoxemic rats by multiple mechanisms. Cell Stress Chaperones 2006, 11:89-100.
187. De Bruyne R., Van Biervliet S., Vande Velde S., van Zanten B.A. Clinical practice: neonatal cholestasis. Eur J Pediatr 2011, 170:279-284.
188. Alissa F.T., Jaffe R., Shneider B.L. Update on progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 2008, 46:241-252.
189. Whitington P.F., Whitington G.L. Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. Gastroenterology 1988, 95:130-136.
190. Emond J.C., Whitington P.F. Selective surgical management of progressive familial intrahepatic cholestasis (Byler's disease). J Pediatr Surg 1995, 30:1635-1641.
191. Kurbegov A.C., Setchell K.D., Haas J.E., Mierau G.W., Narkewicz M., Bancroft J.D., et al. Biliary diversion for progressive familial intrahepatic cholestasis: improved liver morphology and bile acid profile. Gastroenterology 2003, 125:1227-1234.
192. Metzelder M.L., Bottlander M., Melter M., Petersen C., Ure B.M. Laparoscopic partial external biliary diversion procedure in progressive familial intrahepatic cholestasis: a new approach. Surg Endosc 2005, 19:1641-1643.
193. Metzelder M.L., Petersen C., Melter M., Ure B.M. Modified laparoscopic external biliary diversion for benign recurrent intrahepatic cholestasis in obese adolescents. Pediatr Surg Int 2006, 22:551-553.
194. Paumgartner G., Beuers U. Mechanisms of action and therapeutic efficacy of ursodeoxycholic acid in cholestatic liver disease. Clin Liver Dis 2004, 8:67-81. [vi].
195. Takahashi A., Hasegawa M., Sumazaki R., Suzuki M., Toki F., Suehiro T., et al. Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. Eur J Gastroenterol Hepatol 2007, 19:942-946.
196. Jacquemin E., De Vree J.M., Cresteil D., Sokal E.M., Sturm E., Dumont M., et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001, 120:1448-1458.
197. Jacquemin E., Hermans D., Myara A., Habes D., Debray D., Hadchouel M., et al. Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology 1997, 25:519-523.
198. Dinler G., Kocak N., Ozen H., Yuce A., Gurakan F. Ursodeoxycholic acid treatment in children with Byler disease. Pediatr Int 1999, 41:662-665.
199. Crosignani A., Podda M., Bertolini E., Battezzati P.M., Zuin M., Setchell K.D. Failure of ursodeoxycholic acid to prevent a cholestatic episode in a patient with benign recurrent intrahepatic cholestasis: a study of bile acid metabolism. Hepatology 1991, 13:1076-1083.
200. Oude Elferink R.P., Paulusma C.C. Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein). Pflugers Arch 2007, 453:601-610.
201. Graf D., Kurz A.K., Fischer R., Reinehr R., Häussinger D. Taurolithocholic acid-3 sulfate induces CD95 trafficking and apoptosis in a c-Jun N-terminal kinase-dependent manner. Gastroenterology 2002, 122:1411-1427.
202. Marschall H.U., Wagner M., Zollner G., Fickert P., Diczfalusy U., Gumhold J., et al. Complementary stimulation of hepatobiliary transport and detoxification systems by rifampicin and ursodeoxycholic acid in humans. Gastroenterology 2005, 129:476-485.
203. Dumont M., Jacquemin E., Erlinger S. Effect of ursodeoxycholic acid on the expression of the hepatocellular bile acid transporters (Ntcp and Bsep) in rats with estrogen-induced cholestasis. J Pediatr Gastroenterol Nutr 2002, 35:185-191.
204. Beuers U., Boberg K.M., Chapman R.W., Chazouillères O., Invernizzi P., Jones D.E., et al. EASL clinical practice guidelines: management of cholestatic liver diseases. J Hepatol 2009, 51:237-267.
205. Saich R., Collins P., Ala A., Standish R., Hodgson H. Benign recurrent intrahepatic cholestasis with secondary renal impairment treated with extracorporeal albumin dialysis. Eur J Gastroenterol Hepatol 2005, 17:585-588.
206. Sturm E., Franssen C.F., Gouw A., Staels B., Boverhof R., De Knegt R.J., et al. Extracorporal albumin dialysis (MARS) improves cholestasis and normalizes low apo A-I levels in a patient with benign recurrent intrahepatic cholestasis (BRIC). Liver 2002, 22(Suppl 2):72-75.
207. Huster D., Schubert C., Achenbach H., Caca K., Mossner J., Berr F. Successful clinical application of extracorporal albumin dialysis in a patient with benign recurrent intrahepatic cholestasis (BRIC). Z Gastroenterol 2001, 39(Suppl 2):13-14.
208. Yerushalmi B., Sokol R.J., Narkewicz M.R., Smith D., Karrer F.M. Use of rifampin for severe pruritus in children with chronic cholestasis. J Pediatr Gastroenterol Nutr 1999, 29:442-447.
209. Gonzalez R., Cruz A., Ferrin G., Lopez-Cillero P., Briceno J., Gomez M.A., et al. Cytoprotective properties of rifampicin are related to the regulation of detoxification system and bile acid transporter expression during hepatocellular injury induced by hydrophobic bile acids. J Hepatobiliary Pancreat Sci 2011, 18:740-750.
210. Wang R., Sheps J.A., Ling V. ABC transporters, bile acids, and inflammatory stress in liver cancer. Curr Pharm Biotechnol 2011, 12:636-646.
211. Alvarez L., Jara P., Sanchez-Sabate E., Hierro L., Larrauri J., Diaz M.C., et al. Reduced hepatic expression of Farnesoid X Receptor in hereditary cholestasis associated to mutation in ATP8B1. Hum Mol Genet 2004, 13:2451-2460.
212. Chen H.L., Chang P.S., Hsu H.C., Ni Y.H., Hsu H.Y., Lee J.H., et al. FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. J Pediatr 2002, 140:119-124.
213. Davit-Spraul A., Fabre M., Branchereau S., Baussan C., Gonzales E., Stieger B., et al. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. Hepatology 2010, 51:1645-1655.
214. Goto K., Sugiyama K., Sugiura T., Ando T., Mizutani F., Terabe K., et al. Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 2003, 36:647-650.
215. Ho R.H., Leake B.F., Kilkenny D.M., Meyer Zu Schwabedissen H.E., Glaeser H., Kroetz D.L., et al. Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability. Pharmacogenet Genomics 2010, 20:45-57.
216. Kim S.R., Saito Y., Itoda M., Maekawa K., Kawamoto M., Kamatani N., et al. Genetic variations of the ABC transporter gene ABCB11 encoding the human bile salt export pump (BSEP) in a Japanese population. Drug Metab Pharmacokinet 2009, 24:277-281.
217. Lang T., Haberl M., Jung D., Drescher A., Schlagenhaufer R., Keil A., et al. Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). Drug Metab Dispos 2006, 34:1582-1599.
218. Liu C., Aronow B.J., Jegga A.G., Wang N., Miethke A., Mourya R., et al. Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis. Gastroenterology 2007, 132:119-126.
219. Liu L.Y., Wang Z.L., Wang X.H., Zhu Q.R., Wang J.S. ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma-glutamyltransferase. Liver Int 2010, 30:809-815.
220. Matte U., Mourya R., Miethke A., Liu C., Kauffmann G., Moyer K., et al. Analysis of gene mutations in children with cholestasis of undefined etiology. J Pediatr Gastroenterol Nutr 2010, 51:488-493.
221. Nobili V., Di G.S., Francalanci P., Callea F., Marcellini M., Santorelli F.M. A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis. J Gastroenterol 2006, 41:598-603.
222. Sakurai A., Kurata A., Onishi Y., Hirano H., Ishikawa T. Prediction of drug-induced intrahepatic cholestasis: in vitro screening and QSAR analysis of drugs inhibiting the human bile salt export pump. Expert Opin Drug Saf 2007, 6:71-86.
223. Scheimann A.O., Strautnieks S.S., Knisely A.S., Byrne J.A., Thompson R.J., Finegold M.J. Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma. J Pediatr 2007, 150:556-559.
224. Shapiro R., Anikster Y., Yardeni T., Korem S., Hartman K., Shamir R., et al. DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients. J Hum Genet 2010, 55:308-313.
225. Shimizu H., Migita O., Kosaki R., Kasahara M., Fukuda A., Sakamoto S., et al. Living-related liver transplantation for siblings with progressive familial intrahepatic cholestasis 2, with novel genetic findings. Am J Transplant 2011, 11:394-398.
226. Siebold L., Dick A.A., Thompson R., Maggiore G., Jacquemin E., Jaffe R., et al. Recurrent low gamma-glutamyl transpeptidase cholestasis following liver transplantation for bile salt export pump (BSEP) disease (posttransplant recurrent BSEP disease). Liver Transpl 2010, 16:856-863.
227. Strautnieks S.S., Bull L.N., Knisely A.S., Kocoshis S.A., Dahl N., Arnell H., et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998, 20:233-238.
228. Walkowiak J., Jankowska I., Pawlowska J., Strautnieks S., Bull L., Thompson R., et al. Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2. J Pediatr Gastroenterol Nutr 2006, 42:416-418.
229. Tusnady G.E., Simon I. Principles governing amino acid composition of integral membrane proteins: application to topology prediction. J Mol Biol 1998, 283:489-506.