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Volumn 38, Issue 5, 2014, Pages 557-563

ABCB4: Insights from pathobiology into therapy

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; CYCLOSPORIN A; FARNESOID X RECEPTOR; MULTIDRUG RESISTANCE PROTEIN 3; OBETICHOLIC ACID; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR ALPHA; PHOSPHATIDYLCHOLINE; URSODEOXYCHOLIC ACID; MULTIDRUG RESISTANCE PROTEIN;

EID: 84912567019     PISSN: 22107401     EISSN: 2210741X     Source Type: Journal    
DOI: 10.1016/j.clinre.2014.03.001     Document Type: Short Survey
Times cited : (27)

References (80)
  • 1
    • 84890561808 scopus 로고    scopus 로고
    • Bile formation and secretion
    • Boyer J.L. Bile formation and secretion. Compr Physiol 2013, 3:1035-1078.
    • (2013) Compr Physiol , vol.3 , pp. 1035-1078
    • Boyer, J.L.1
  • 2
    • 0014283788 scopus 로고
    • The physicochemical basis of cholesterol gallstone formation in man
    • Admirand W.H., Small D.M. The physicochemical basis of cholesterol gallstone formation in man. J Clin Invest 1968, 47:1043-1052.
    • (1968) J Clin Invest , vol.47 , pp. 1043-1052
    • Admirand, W.H.1    Small, D.M.2
  • 3
    • 0014039576 scopus 로고
    • Detergent properties of bile salts: correlation with physiological function
    • Hofmann A.F., Small D.M. Detergent properties of bile salts: correlation with physiological function. Annu Rev Med 1967, 18:333-376.
    • (1967) Annu Rev Med , vol.18 , pp. 333-376
    • Hofmann, A.F.1    Small, D.M.2
  • 4
    • 66349121963 scopus 로고    scopus 로고
    • Biliary lipids and cholesterol gallstone disease
    • Wang D.Q., Cohen D.E., Carey M.C. Biliary lipids and cholesterol gallstone disease. J Lipid Res 2009, 50(Suppl.):S406-S411.
    • (2009) J Lipid Res , vol.50 , pp. S406-S411
    • Wang, D.Q.1    Cohen, D.E.2    Carey, M.C.3
  • 5
    • 75349107079 scopus 로고    scopus 로고
    • Liver disease associated with canalicular transport defects: current and future therapies
    • Stapelbroek J.M., van Erpecum K.J., Klomp L.W., Houwen R.H. Liver disease associated with canalicular transport defects: current and future therapies. J Hepatol 2010, 52:258-271.
    • (2010) J Hepatol , vol.52 , pp. 258-271
    • Stapelbroek, J.M.1    van Erpecum, K.J.2    Klomp, L.W.3    Houwen, R.H.4
  • 6
    • 0035045719 scopus 로고    scopus 로고
    • The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood
    • 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.
    • (2001) Gastroenterology , vol.120 , pp. 1448-1458
    • Jacquemin, E.1    De Vree, J.M.2    Cresteil, D.3    Sokal, E.M.4    Sturm, E.5    Dumont, M.6
  • 7
    • 0035053975 scopus 로고    scopus 로고
    • MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis
    • Rosmorduc O., Hermelin B., Poupon R. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology 2001, 120:1459-1467.
    • (2001) Gastroenterology , vol.120 , pp. 1459-1467
    • Rosmorduc, O.1    Hermelin, B.2    Poupon, R.3
  • 9
    • 46049094386 scopus 로고    scopus 로고
    • ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults
    • Ziol M., Barbu V., Rosmorduc O., Frassati-Biaggi A., Barget N., Hermelin B., et al. ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. Gastroenterology 2008, 135:131-141.
    • (2008) Gastroenterology , vol.135 , pp. 131-141
    • Ziol, M.1    Barbu, V.2    Rosmorduc, O.3    Frassati-Biaggi, A.4    Barget, N.5    Hermelin, B.6
  • 10
    • 77951571805 scopus 로고    scopus 로고
    • The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects
    • Davit-Spraul A., Gonzales E., Baussan C., Jacquemin E. The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. Semin Liver Dis 2010, 30:134-146.
    • (2010) Semin Liver Dis , vol.30 , pp. 134-146
    • Davit-Spraul, A.1    Gonzales, E.2    Baussan, C.3    Jacquemin, E.4
  • 11
    • 67651146698 scopus 로고    scopus 로고
    • Intrahepatic cholestasis of pregnancy
    • Geenes V., Williamson C. Intrahepatic cholestasis of pregnancy. World J Gastroenterol 2009, 15:2049-2066.
    • (2009) World J Gastroenterol , vol.15 , pp. 2049-2066
    • Geenes, V.1    Williamson, C.2
  • 12
    • 84868676894 scopus 로고    scopus 로고
    • Low phospholipid-associated cholestasis and cholelithiasis
    • Erlinger S. Low phospholipid-associated cholestasis and cholelithiasis. Clin Res Hepatol Gastroenterol 2012, 36(Suppl. 1):S36-S40.
    • (2012) Clin Res Hepatol Gastroenterol , vol.36 , pp. S36-S40
    • Erlinger, S.1
  • 13
    • 0031049399 scopus 로고    scopus 로고
    • Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis
    • 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.
    • (1997) Hepatology , vol.25 , pp. 519-523
    • Jacquemin, E.1    Hermans, D.2    Myara, A.3    Habes, D.4    Debray, D.5    Hadchouel, M.6
  • 14
    • 0023441173 scopus 로고
    • The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver
    • Van der Bliek A.M., Baas F., Ten Houte de Lange T., Kooiman P.M., Van der Velde-Koerts T., Borst P. The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver. EMBO J 1987, 6:3325-3331.
    • (1987) EMBO J , vol.6 , pp. 3325-3331
    • Van der Bliek, A.M.1    Baas, F.2    Ten Houte de Lange, T.3    Kooiman, P.M.4    Van der Velde-Koerts, T.5    Borst, P.6
  • 15
  • 16
    • 0025801867 scopus 로고
    • Structure of the human MDR3 gene and physical mapping of the human MDR locus
    • Lincke C.R., Smit J.J., van der Velde-Koerts T., Borst P. Structure of the human MDR3 gene and physical mapping of the human MDR locus. J Biol Chem 1991, 266:5303-5310.
    • (1991) J Biol Chem , vol.266 , pp. 5303-5310
    • Lincke, C.R.1    Smit, J.J.2    van der Velde-Koerts, T.3    Borst, P.4
  • 17
    • 0034604707 scopus 로고    scopus 로고
    • MDR3 P-glycoprotein, a phosphatidylcholine translocase, transports several cytotoxic drugs and directly interacts with drugs as judged by interference with nucleotide trapping
    • Smith A.J., van Helvoort A., van Meer G., Szabo K., Welker E., Szakacs G., et al. MDR3 P-glycoprotein, a phosphatidylcholine translocase, transports several cytotoxic drugs and directly interacts with drugs as judged by interference with nucleotide trapping. J Biol Chem 2000, 275:23530-23539.
    • (2000) J Biol Chem , vol.275 , pp. 23530-23539
    • Smith, A.J.1    van Helvoort, A.2    van Meer, G.3    Szabo, K.4    Welker, E.5    Szakacs, G.6
  • 18
    • 0027363563 scopus 로고
    • Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease
    • Smit J.J., Schinkel A.H., Oude Elferink R.P., Groen A.K., Wagenaar E., van Deemter L., et al. Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease. Cell 1993, 75:451-462.
    • (1993) Cell , vol.75 , pp. 451-462
    • Smit, J.J.1    Schinkel, A.H.2    Oude Elferink, R.P.3    Groen, A.K.4    Wagenaar, E.5    van Deemter, L.6
  • 19
    • 0028307550 scopus 로고
    • Phosphatidylcholine translocase: a physiological role for the mdr2 gene
    • Ruetz S., Gros P. Phosphatidylcholine translocase: a physiological role for the mdr2 gene. Cell 1994, 77:1071-1081.
    • (1994) Cell , vol.77 , pp. 1071-1081
    • Ruetz, S.1    Gros, P.2
  • 20
    • 0027969948 scopus 로고
    • The human MDR3 P-glycoprotein promotes translocation of phosphatidylcholine through the plasma membrane of fibroblasts from transgenic mice
    • Smith A.J., Timmermans-Hereijgers J.L., Roelofsen B., Wirtz K.W., van Blitterswijk W.J., Smit J.J., et al. The human MDR3 P-glycoprotein promotes translocation of phosphatidylcholine through the plasma membrane of fibroblasts from transgenic mice. FEBS Lett 1994, 354:263-266.
    • (1994) FEBS Lett , vol.354 , pp. 263-266
    • Smith, A.J.1    Timmermans-Hereijgers, J.L.2    Roelofsen, B.3    Wirtz, K.W.4    van Blitterswijk, W.J.5    Smit, J.J.6
  • 22
    • 0034917716 scopus 로고    scopus 로고
    • The human ATP-binding cassette (ABC) transporter superfamily
    • Dean M., Rzhetsky A., Allikmets R. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res 2001, 11:1156-1166.
    • (2001) Genome Res , vol.11 , pp. 1156-1166
    • Dean, M.1    Rzhetsky, A.2    Allikmets, R.3
  • 24
    • 63449139456 scopus 로고    scopus 로고
    • Structure of P-glycoprotein reveals a molecular basis for poly-specific drug binding
    • Aller S.G., Yu J., Ward A., Weng Y., Chittaboina S., Zhuo R., et al. Structure of P-glycoprotein reveals a molecular basis for poly-specific drug binding. Science 2009, 323:1718-1722.
    • (2009) Science , vol.323 , pp. 1718-1722
    • Aller, S.G.1    Yu, J.2    Ward, A.3    Weng, Y.4    Chittaboina, S.5    Zhuo, R.6
  • 25
    • 0002650888 scopus 로고    scopus 로고
    • Hepatic canalicular membrane 1: the role of mdr2 P-glycoprotein in hepatobiliary lipid transport
    • Oude Elferink R.P., Tytgat G.N., Groen A.K. Hepatic canalicular membrane 1: the role of mdr2 P-glycoprotein in hepatobiliary lipid transport. FASEB J 1997, 11:19-28.
    • (1997) FASEB J , vol.11 , pp. 19-28
    • Oude Elferink, R.P.1    Tytgat, G.N.2    Groen, A.K.3
  • 26
    • 0028800181 scopus 로고
    • Imaging biliary lipid secretion in the rat: ultrastructural evidence for vesiculation of the hepatocyte canalicular membrane
    • Crawford J.M., Mockel G.M., Crawford A.R., Hagen S.J., Hatch V.C., Barnes S., et al. Imaging biliary lipid secretion in the rat: ultrastructural evidence for vesiculation of the hepatocyte canalicular membrane. J Lipid Res 1995, 36:2147-2163.
    • (1995) J Lipid Res , vol.36 , pp. 2147-2163
    • Crawford, J.M.1    Mockel, G.M.2    Crawford, A.R.3    Hagen, S.J.4    Hatch, V.C.5    Barnes, S.6
  • 27
    • 34547400136 scopus 로고    scopus 로고
    • Bile salt-dependent efflux of cellular phospholipids mediated by ATP binding cassette protein B4
    • Morita S.Y., Kobayashi A., Takanezawa Y., Kioka N., Handa T., Arai H., et al. Bile salt-dependent efflux of cellular phospholipids mediated by ATP binding cassette protein B4. Hepatology 2007, 46:188-199.
    • (2007) Hepatology , vol.46 , pp. 188-199
    • Morita, S.Y.1    Kobayashi, A.2    Takanezawa, Y.3    Kioka, N.4    Handa, T.5    Arai, H.6
  • 28
    • 0036623233 scopus 로고    scopus 로고
    • Nuclear receptor regulation of hepatic function
    • Karpen S.J. Nuclear receptor regulation of hepatic function. J Hepatol 2002, 36:832-850.
    • (2002) J Hepatol , vol.36 , pp. 832-850
    • Karpen, S.J.1
  • 29
    • 0029922002 scopus 로고    scopus 로고
    • Fibrates induce mdr2 gene expression and biliary phospholipid secretion in the mouse
    • Chianale J., Vollrath V., Wielandt A.M., Amigo L., Rigotti A., Nervi F., et al. Fibrates induce mdr2 gene expression and biliary phospholipid secretion in the mouse. Biochem J 1996, 314:781-786.
    • (1996) Biochem J , vol.314 , pp. 781-786
    • Chianale, J.1    Vollrath, V.2    Wielandt, A.M.3    Amigo, L.4    Rigotti, A.5    Nervi, F.6
  • 30
    • 9144243644 scopus 로고    scopus 로고
    • Farnesoid X receptor activates transcription of the phospholipid pump MDR3
    • Huang L., Zhao A., Lew J.L., Zhang T., Hrywna Y., Thompson J.R., et al. Farnesoid X receptor activates transcription of the phospholipid pump MDR3. J Biol Chem 2003, 278:51085-51090.
    • (2003) J Biol Chem , vol.278 , pp. 51085-51090
    • Huang, L.1    Zhao, A.2    Lew, J.L.3    Zhang, T.4    Hrywna, Y.5    Thompson, J.R.6
  • 31
    • 34249908931 scopus 로고    scopus 로고
    • Bezafibrate induces multidrug-resistance P-glycoprotein 3 expression in cultured human hepatocytes and humanized livers of chimeric mice
    • Shoda J., Okada K., Inada Y., Kusama H., Utsunomiya H., Oda K., et al. Bezafibrate induces multidrug-resistance P-glycoprotein 3 expression in cultured human hepatocytes and humanized livers of chimeric mice. Hepatol Res 2007, 37:548-556.
    • (2007) Hepatol Res , vol.37 , pp. 548-556
    • Shoda, J.1    Okada, K.2    Inada, Y.3    Kusama, H.4    Utsunomiya, H.5    Oda, K.6
  • 33
    • 0035800772 scopus 로고    scopus 로고
    • Human bile salt export pump promoter is transactivated by the farnesoid X receptor/bile acid receptor
    • 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.
    • (2001) J Biol Chem , vol.276 , pp. 28857-28865
    • Ananthanarayanan, M.1    Balasubramanian, N.2    Makishima, M.3    Mangelsdorf, D.J.4    Suchy, F.J.5
  • 34
    • 84863804104 scopus 로고    scopus 로고
    • Metabolomics reveals an essential role for peroxisome proliferator-activated receptor alpha in bile acid homeostasis
    • Li F., Patterson A.D., Krausz K.W., Tanaka N., Gonzalez F.J. Metabolomics reveals an essential role for peroxisome proliferator-activated receptor alpha in bile acid homeostasis. J Lipid Res 2012, 53:1625-1635.
    • (2012) J Lipid Res , vol.53 , pp. 1625-1635
    • Li, F.1    Patterson, A.D.2    Krausz, K.W.3    Tanaka, N.4    Gonzalez, F.J.5
  • 35
    • 0032819120 scopus 로고    scopus 로고
    • 3-Hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors (statins) induce hepatic expression of the phospholipid translocase mdr2 in rats
    • Hooiveld G.J., Vos T.A., Scheffer G.L., Van Goor H., Koning H., Bloks V., et al. 3-Hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors (statins) induce hepatic expression of the phospholipid translocase mdr2 in rats. Gastroenterology 1999, 117:678-687.
    • (1999) Gastroenterology , vol.117 , pp. 678-687
    • Hooiveld, G.J.1    Vos, T.A.2    Scheffer, G.L.3    Van Goor, H.4    Koning, H.5    Bloks, V.6
  • 36
    • 0037541102 scopus 로고    scopus 로고
    • Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills
    • Ganne-Carrie N., Baussan C., Grando V., Gaudelus J., Cresteil D., Jacquemin E. Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills. J Hepatol 2003, 38:693-694.
    • (2003) J Hepatol , vol.38 , pp. 693-694
    • Ganne-Carrie, N.1    Baussan, C.2    Grando, V.3    Gaudelus, J.4    Cresteil, D.5    Jacquemin, E.6
  • 37
    • 84883211808 scopus 로고    scopus 로고
    • Genotype-phenotype relationships in the low-phospholipid associated cholelithiasis syndrome. A study of 156 consecutive patients
    • Poupon R., Rosmorduc O., Boelle P.Y., Chretien Y., Corpechot C., Chazouilleres O., et al. Genotype-phenotype relationships in the low-phospholipid associated cholelithiasis syndrome. A study of 156 consecutive patients. Hepatology 2013, 58:1105-1110.
    • (2013) Hepatology , vol.58 , pp. 1105-1110
    • Poupon, R.1    Rosmorduc, O.2    Boelle, P.Y.3    Chretien, Y.4    Corpechot, C.5    Chazouilleres, O.6
  • 38
    • 0034717284 scopus 로고    scopus 로고
    • Newly synthesized canalicular ABC transporters are directly targeted from the Golgi to the hepatocyte apical domain in rat liver
    • 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.
    • (2000) J Biol Chem , vol.275 , pp. 15917-15925
    • Kipp, H.1    Arias, I.M.2
  • 39
    • 0036196904 scopus 로고    scopus 로고
    • Trafficking of canalicular ABC transporters in hepatocytes
    • Kipp H., Arias I.M. Trafficking of canalicular ABC transporters in hepatocytes. Annu Rev Physiol 2002, 64:595-608.
    • (2002) Annu Rev Physiol , vol.64 , pp. 595-608
    • Kipp, H.1    Arias, I.M.2
  • 40
    • 0037323554 scopus 로고    scopus 로고
    • Raft-mediated trafficking of apical resident proteins occurs in both direct and transcytotic pathways in polarized hepatic cells: role of distinct lipid microdomains
    • Aït-Slimane T., Trugnan G., Van I.S.C., Hoekstra D. Raft-mediated trafficking of apical resident proteins occurs in both direct and transcytotic pathways in polarized hepatic cells: role of distinct lipid microdomains. Mol Biol Cell 2003, 14:611-624.
    • (2003) Mol Biol Cell , vol.14 , pp. 611-624
    • Aït-Slimane, T.1    Trugnan, G.2    Van, I.S.C.3    Hoekstra, D.4
  • 41
    • 3543047295 scopus 로고    scopus 로고
    • 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
    • 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.
    • (2004) J Biol Chem , vol.279 , pp. 32761-32770
    • Ortiz, D.F.1    Moseley, J.2    Calderon, G.3    Swift, A.L.4    Li, S.5    Arias, I.M.6
  • 42
    • 21244439989 scopus 로고    scopus 로고
    • Myosin II regulatory light chain is required for trafficking of bile salt export protein to the apical membrane in Madin-Darby canine kidney cells
    • Chan W., Calderon G., Swift A.L., Moseley J., Li S., Hosoya H., et al. Myosin II regulatory light chain is required for trafficking of bile salt export protein to the apical membrane in Madin-Darby canine kidney cells. J Biol Chem 2005, 280:23741-23747.
    • (2005) J Biol Chem , vol.280 , pp. 23741-23747
    • Chan, W.1    Calderon, G.2    Swift, A.L.3    Moseley, J.4    Li, S.5    Hosoya, H.6
  • 43
    • 73649091115 scopus 로고    scopus 로고
    • Receptor for activated C-kinase 1 regulates the cellular localization and function of ABCB4
    • Ikebuchi Y., Takada T., Ito K., Yoshikado T., Anzai N., Kanai Y., et al. Receptor for activated C-kinase 1 regulates the cellular localization and function of ABCB4. Hepatol Res 2009, 39:1091-1107.
    • (2009) Hepatol Res , vol.39 , pp. 1091-1107
    • Ikebuchi, Y.1    Takada, T.2    Ito, K.3    Yoshikado, T.4    Anzai, N.5    Kanai, Y.6
  • 44
    • 84861570681 scopus 로고    scopus 로고
    • A C-terminal tyrosine-based motif in the bile salt export pump directs clathrin-dependent endocytosis
    • 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.
    • (2012) Hepatology , vol.55 , pp. 1901-1911
    • Lam, P.1    Xu, S.2    Soroka, C.J.3    Boyer, J.L.4
  • 45
    • 0037131297 scopus 로고    scopus 로고
    • PDZ domain interaction controls the endocytic recycling of the cystic fibrosis transmembrane conductance regulator
    • Swiatecka-Urban A., Duhaime M., Coutermarsh B., Karlson K.H., Collawn J., Milewski M., et al. PDZ domain interaction controls the endocytic recycling of the cystic fibrosis transmembrane conductance regulator. J Biol Chem 2002, 277:40099-40105.
    • (2002) J Biol Chem , vol.277 , pp. 40099-40105
    • Swiatecka-Urban, A.1    Duhaime, M.2    Coutermarsh, B.3    Karlson, K.H.4    Collawn, J.5    Milewski, M.6
  • 46
    • 77953500548 scopus 로고    scopus 로고
    • NHERF-1 binds to Mrp2 and regulates hepatic Mrp2 expression and function
    • Li M., Wang W., Soroka C.J., Mennone A., Harry K., Weinman E.J., et al. NHERF-1 binds to Mrp2 and regulates hepatic Mrp2 expression and function. J Biol Chem 2010, 285:19299-19307.
    • (2010) J Biol Chem , vol.285 , pp. 19299-19307
    • Li, M.1    Wang, W.2    Soroka, C.J.3    Mennone, A.4    Harry, K.5    Weinman, E.J.6
  • 47
    • 0029990296 scopus 로고    scopus 로고
    • Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis
    • Deleuze J.F., Jacquemin E., Dubuisson C., Cresteil D., Dumont M., Erlinger S., et al. Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology 1996, 23:904-908.
    • (1996) Hepatology , vol.23 , pp. 904-908
    • Deleuze, J.F.1    Jacquemin, E.2    Dubuisson, C.3    Cresteil, D.4    Dumont, M.5    Erlinger, S.6
  • 48
    • 0017805654 scopus 로고
    • The physical chemistry of cholesterol solubility in bile. Relationship to gallstone formation and dissolution in man
    • Carey M.C., Small D.M. The physical chemistry of cholesterol solubility in bile. Relationship to gallstone formation and dissolution in man. J Clin Invest 1978, 61:998-1026.
    • (1978) J Clin Invest , vol.61 , pp. 998-1026
    • Carey, M.C.1    Small, D.M.2
  • 49
    • 36349000557 scopus 로고    scopus 로고
    • Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3)
    • Degiorgio D., Colombo C., Seia M., Porcaro L., Costantino L., Zazzeron L., et al. Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). Eur J Hum Genet 2007, 15:1230-1238.
    • (2007) Eur J Hum Genet , vol.15 , pp. 1230-1238
    • Degiorgio, D.1    Colombo, C.2    Seia, M.3    Porcaro, L.4    Costantino, L.5    Zazzeron, L.6
  • 50
    • 77950616900 scopus 로고    scopus 로고
    • Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3
    • Poupon R., Barbu V., Chamouard P., Wendum D., Rosmorduc O., Housset C. Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3. Liver Int 2010, 30:327-331.
    • (2010) Liver Int , vol.30 , pp. 327-331
    • Poupon, R.1    Barbu, V.2    Chamouard, P.3    Wendum, D.4    Rosmorduc, O.5    Housset, C.6
  • 51
    • 78650929140 scopus 로고    scopus 로고
    • Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations
    • Colombo C., Vajro P., Degiorgio D., Coviello D.A., Costantino L., Tornillo L., et al. Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. J Pediatr Gastroenterol Nutr 2011, 52:73-83.
    • (2011) J Pediatr Gastroenterol Nutr , vol.52 , pp. 73-83
    • Colombo, C.1    Vajro, P.2    Degiorgio, D.3    Coviello, D.A.4    Costantino, L.5    Tornillo, L.6
  • 52
    • 79957624084 scopus 로고    scopus 로고
    • Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3
    • Giovannoni I., Santorelli F.M., Candusso M., Di Rocco M., Bellacchio E., Callea F., et al. Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3. Dig Liver Dis 2011, 43:567-570.
    • (2011) Dig Liver Dis , vol.43 , pp. 567-570
    • Giovannoni, I.1    Santorelli, F.M.2    Candusso, M.3    Di Rocco, M.4    Bellacchio, E.5    Callea, F.6
  • 53
    • 84863839192 scopus 로고    scopus 로고
    • Chinese children with chronic intrahepatic cholestasis and high gamma-glutamyl transpeptidase: clinical features and association with ABCB4 mutations
    • Fang L.J., Wang X.H., Knisely A.S., Yu H., Lu Y., Liu L.Y., et al. Chinese children with chronic intrahepatic cholestasis and high gamma-glutamyl transpeptidase: clinical features and association with ABCB4 mutations. J Pediatr Gastroenterol Nutr 2012, 55:150-156.
    • (2012) J Pediatr Gastroenterol Nutr , vol.55 , pp. 150-156
    • Fang, L.J.1    Wang, X.H.2    Knisely, A.S.3    Yu, H.4    Lu, Y.5    Liu, L.Y.6
  • 54
    • 17844403220 scopus 로고    scopus 로고
    • Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis
    • Keitel V., Burdelski M., Warskulat U., Kuhlkamp T., Keppler D., Haussinger D., et al. Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis. Hepatology 2005, 41:1160-1172.
    • (2005) Hepatology , vol.41 , pp. 1160-1172
    • Keitel, V.1    Burdelski, M.2    Warskulat, U.3    Kuhlkamp, T.4    Keppler, D.5    Haussinger, D.6
  • 55
    • 33746537974 scopus 로고    scopus 로고
    • Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy
    • Keitel V., Vogt C., Haussinger D., Kubitz R. Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy. Gastroenterology 2006, 131:624-629.
    • (2006) Gastroenterology , vol.131 , pp. 624-629
    • Keitel, V.1    Vogt, C.2    Haussinger, D.3    Kubitz, R.4
  • 56
    • 84864772620 scopus 로고    scopus 로고
    • The histidine-loop is essential for transport activity of human MDR3. A novel mutation of MDR3 in a patient with progressive familial intrahepatic cholestasis type 3
    • Dzagania T., Engelmann G., Haussinger D., Schmitt L., Flechtenmacher C., Rtskhiladze I., et al. The histidine-loop is essential for transport activity of human MDR3. A novel mutation of MDR3 in a patient with progressive familial intrahepatic cholestasis type 3. Gene 2012, 506:141-145.
    • (2012) Gene , vol.506 , pp. 141-145
    • Dzagania, T.1    Engelmann, G.2    Haussinger, D.3    Schmitt, L.4    Flechtenmacher, C.5    Rtskhiladze, I.6
  • 58
    • 17644443114 scopus 로고    scopus 로고
    • Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking
    • Dixon P.H., Weerasekera N., Linton K.J., Donaldson O., Chambers J., Egginton E., et al. Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking. Hum Mol Genet 2000, 9:1209-1217.
    • (2000) Hum Mol Genet , vol.9 , pp. 1209-1217
    • Dixon, P.H.1    Weerasekera, N.2    Linton, K.J.3    Donaldson, O.4    Chambers, J.5    Egginton, E.6
  • 59
    • 65449136273 scopus 로고    scopus 로고
    • A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature
    • Delaunay J.L., Durand-Schneider A.M., Delautier D., Rada A., Gautherot J., Jacquemin E., et al. A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature. Hepatology 2009, 49:1218-1227.
    • (2009) Hepatology , vol.49 , pp. 1218-1227
    • Delaunay, J.L.1    Durand-Schneider, A.M.2    Delautier, D.3    Rada, A.4    Gautherot, J.5    Jacquemin, E.6
  • 60
    • 84856816223 scopus 로고    scopus 로고
    • Effects of cellular, chemical and pharmacological chaperones on the rescue of a trafficking-defective mutant of the ATP-binding cassette transporters ABCB1/ABCB4
    • Gautherot J., Durand-Schneider A.M., Delautier D., Delaunay J.L., Rada A., Gabillet J., et al. Effects of cellular, chemical and pharmacological chaperones on the rescue of a trafficking-defective mutant of the ATP-binding cassette transporters ABCB1/ABCB4. J Biol Chem 2012, 287:5070-5078.
    • (2012) J Biol Chem , vol.287 , pp. 5070-5078
    • Gautherot, J.1    Durand-Schneider, A.M.2    Delautier, D.3    Delaunay, J.L.4    Rada, A.5    Gabillet, J.6
  • 61
    • 84898783637 scopus 로고    scopus 로고
    • Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction
    • [in press]
    • Degiorgio D., Corsetto P.A., Rizzo A.M., Colombo C., Seia M., Costantino L., et al. Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction. Eur J Hum Genet 2013, [in press]. 10.1038/ejhg.2013.214.
    • (2013) Eur J Hum Genet
    • Degiorgio, D.1    Corsetto, P.A.2    Rizzo, A.M.3    Colombo, C.4    Seia, M.5    Costantino, L.6
  • 62
    • 84899472623 scopus 로고    scopus 로고
    • A molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4
    • [in press]
    • Andress E.J., Nicolaou M., Romero M.R., Naik S., Dixon P.H., Williamson C., et al. A molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4. Hepatology 2013, [in press]. 10.1002/hep.26970.
    • (2013) Hepatology
    • Andress, E.J.1    Nicolaou, M.2    Romero, M.R.3    Naik, S.4    Dixon, P.H.5    Williamson, C.6
  • 63
    • 67649205149 scopus 로고    scopus 로고
    • EASL clinical practice guidelines: management of cholestatic liver diseases
    • EASL EASL clinical practice guidelines: management of cholestatic liver diseases. J Hepatol 2009, 51:237-267.
    • (2009) J Hepatol , vol.51 , pp. 237-267
  • 64
    • 84868698756 scopus 로고    scopus 로고
    • Ursodeoxycholic acid and bile-acid mimetics as therapeutic agents for cholestatic liver diseases: an overview of their mechanisms of action
    • Poupon R. Ursodeoxycholic acid and bile-acid mimetics as therapeutic agents for cholestatic liver diseases: an overview of their mechanisms of action. Clin Res Hepatol Gastroenterol 2012, 36(Suppl. 1):S3-S12.
    • (2012) Clin Res Hepatol Gastroenterol , vol.36 , pp. S3-S12
    • Poupon, R.1
  • 65
    • 32044467118 scopus 로고    scopus 로고
    • 24-norUrsodeoxycholic acid is superior to ursodeoxycholic acid in the treatment of sclerosing cholangitis in Mdr2 (Abcb4) knockout mice
    • Fickert P., Wagner M., Marschall H.U., Fuchsbichler A., Zollner G., Tsybrovskyy O., et al. 24-norUrsodeoxycholic acid is superior to ursodeoxycholic acid in the treatment of sclerosing cholangitis in Mdr2 (Abcb4) knockout mice. Gastroenterology 2006, 130:465-481.
    • (2006) Gastroenterology , vol.130 , pp. 465-481
    • Fickert, P.1    Wagner, M.2    Marschall, H.U.3    Fuchsbichler, A.4    Zollner, G.5    Tsybrovskyy, O.6
  • 68
    • 0037325403 scopus 로고    scopus 로고
    • Peroxisome proliferator-activated receptor alpha (PPARalpha)-mediated regulation of multidrug resistance 2 (Mdr2) expression and function in mice
    • Kok T., Bloks V.W., Wolters H., Havinga R., Jansen P.L., Staels B., et al. Peroxisome proliferator-activated receptor alpha (PPARalpha)-mediated regulation of multidrug resistance 2 (Mdr2) expression and function in mice. Biochem J 2003, 369:539-547.
    • (2003) Biochem J , vol.369 , pp. 539-547
    • Kok, T.1    Bloks, V.W.2    Wolters, H.3    Havinga, R.4    Jansen, P.L.5    Staels, B.6
  • 69
    • 73649090382 scopus 로고    scopus 로고
    • Therapeutic effect of bezafibrate against biliary damage: a study of phospholipid secretion via the PPARalpha-MDR3 pathway
    • Nakamuta M., Fujino T., Yada R., Yasutake K., Yoshimoto T., Harada N., et al. Therapeutic effect of bezafibrate against biliary damage: a study of phospholipid secretion via the PPARalpha-MDR3 pathway. Int J Clin Pharmacol Ther 2010, 48:22-28.
    • (2010) Int J Clin Pharmacol Ther , vol.48 , pp. 22-28
    • Nakamuta, M.1    Fujino, T.2    Yada, R.3    Yasutake, K.4    Yoshimoto, T.5    Harada, N.6
  • 70
    • 84896691836 scopus 로고    scopus 로고
    • PPARalpha activates human multidrug resistance transporter 3/ATP-binding cassette protein subfamily B4 transcription and increases rat biliary phosphatidylcholine secretion
    • Ghonem N.S., Ananthanarayanan M., Soroka C.J., Boyer J.L. PPARalpha activates human multidrug resistance transporter 3/ATP-binding cassette protein subfamily B4 transcription and increases rat biliary phosphatidylcholine secretion. Hepatology 2014, 59:1030-1042.
    • (2014) Hepatology , vol.59 , pp. 1030-1042
    • Ghonem, N.S.1    Ananthanarayanan, M.2    Soroka, C.J.3    Boyer, J.L.4
  • 71
    • 0035052166 scopus 로고    scopus 로고
    • Role of fibrates and HMG-CoA reductase inhibitors in gallstone formation: epidemiological study in an unselected population
    • Caroli-Bosc F.X., Le Gall P., Pugliese P., Delabre B., Caroli-Bosc C., Demarquay J.F., et al. Role of fibrates and HMG-CoA reductase inhibitors in gallstone formation: epidemiological study in an unselected population. Dig Dis Sci 2001, 46:540-544.
    • (2001) Dig Dis Sci , vol.46 , pp. 540-544
    • Caroli-Bosc, F.X.1    Le Gall, P.2    Pugliese, P.3    Delabre, B.4    Caroli-Bosc, C.5    Demarquay, J.F.6
  • 72
    • 0037101810 scopus 로고    scopus 로고
    • 6alpha-ethyl-chenodeoxycholic acid (6-ECDCA), a potent and selective FXR agonist endowed with anticholestatic activity
    • Pellicciari R., Fiorucci S., Camaioni E., Clerici C., Costantino G., Maloney P.R., et al. 6alpha-ethyl-chenodeoxycholic acid (6-ECDCA), a potent and selective FXR agonist endowed with anticholestatic activity. J Med Chem 2002, 45:3569-3572.
    • (2002) J Med Chem , vol.45 , pp. 3569-3572
    • Pellicciari, R.1    Fiorucci, S.2    Camaioni, E.3    Clerici, C.4    Costantino, G.5    Maloney, P.R.6
  • 73
    • 84865142947 scopus 로고    scopus 로고
    • Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2
    • Gonzales E., Grosse B., Cassio D., Davit-Spraul A., Fabre M., Jacquemin E. Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2. J Hepatol 2012, 57:695-698.
    • (2012) J Hepatol , vol.57 , pp. 695-698
    • Gonzales, E.1    Grosse, B.2    Cassio, D.3    Davit-Spraul, A.4    Fabre, M.5    Jacquemin, E.6
  • 74
    • 84879000844 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane regulator correctors and potentiators
    • Rowe S.M., Verkman A.S. Cystic fibrosis transmembrane regulator correctors and potentiators. Cold Spring Harb Perspect Med 2013, 3:a009761.
    • (2013) Cold Spring Harb Perspect Med , vol.3 , pp. a009761
    • Rowe, S.M.1    Verkman, A.S.2
  • 75
    • 24644464284 scopus 로고    scopus 로고
    • Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening
    • Pedemonte N., Lukacs G.L., Du K., Caci E., Zegarra-Moran O., Galietta L.J., et al. Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening. J Clin Invest 2005, 115:2564-2571.
    • (2005) J Clin Invest , vol.115 , pp. 2564-2571
    • Pedemonte, N.1    Lukacs, G.L.2    Du, K.3    Caci, E.4    Zegarra-Moran, O.5    Galietta, L.J.6
  • 76
    • 33744831154 scopus 로고    scopus 로고
    • Rescue of DeltaF508-CFTR trafficking and gating in human cystic fibrosis airway primary cultures by small molecules
    • Van Goor F., Straley K.S., Cao D., Gonzalez J., Hadida S., Hazlewood A., et al. Rescue of DeltaF508-CFTR trafficking and gating in human cystic fibrosis airway primary cultures by small molecules. Am J Physiol Lung Cell Mol Physiol 2006, 290:L1117-L1130.
    • (2006) Am J Physiol Lung Cell Mol Physiol , vol.290 , pp. L1117-L1130
    • Van Goor, F.1    Straley, K.S.2    Cao, D.3    Gonzalez, J.4    Hadida, S.5    Hazlewood, A.6
  • 77
    • 84884967922 scopus 로고    scopus 로고
    • Discovery of novel potent DeltaF508-CFTR correctors that target the nucleotide binding domain
    • Odolczyk N., Fritsch J., Norez C., Servel N., da Cunha M.F., Bitam S., et al. Discovery of novel potent DeltaF508-CFTR correctors that target the nucleotide binding domain. EMBO Mol Med 2013, 5:1484-1501.
    • (2013) EMBO Mol Med , vol.5 , pp. 1484-1501
    • Odolczyk, N.1    Fritsch, J.2    Norez, C.3    Servel, N.4    da Cunha, M.F.5    Bitam, S.6
  • 78
    • 34347333381 scopus 로고    scopus 로고
    • Molecular targeting of CFTR as a therapeutic approach to cystic fibrosis
    • Amaral M.D., Kunzelmann K. Molecular targeting of CFTR as a therapeutic approach to cystic fibrosis. Trends Pharmacol Sci 2007, 28:334-341.
    • (2007) Trends Pharmacol Sci , vol.28 , pp. 334-341
    • Amaral, M.D.1    Kunzelmann, K.2
  • 79
    • 0034466173 scopus 로고    scopus 로고
    • Correction of liver disease by hepatocyte transplantation in a mouse model of progressive familial intrahepatic cholestasis
    • De Vree J.M., Ottenhoff R., Bosma P.J., Smith A.J., Aten J., Oude Elferink R.P. Correction of liver disease by hepatocyte transplantation in a mouse model of progressive familial intrahepatic cholestasis. Gastroenterology 2000, 119:1720-1730.
    • (2000) Gastroenterology , vol.119 , pp. 1720-1730
    • De Vree, J.M.1    Ottenhoff, R.2    Bosma, P.J.3    Smith, A.J.4    Aten, J.5    Oude Elferink, R.P.6
  • 80
    • 84875175557 scopus 로고    scopus 로고
    • Gene therapy in cystic fibrosis
    • Prickett M., Jain M. Gene therapy in cystic fibrosis. Transl Res 2013, 161:255-264.
    • (2013) Transl Res , vol.161 , pp. 255-264
    • Prickett, M.1    Jain, M.2


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