SEARCH

SEARCH BY CITATION

References

  • 1
    Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998; 18: 219224.
  • 2
    van Mil SW, Klomp LW, Bull LN, Houwen RH. FIC1 disease: a spectrum of intrahepatic cholestatic disorders. Semin Liver Dis 2001; 21: 535544.
  • 3
    Lykavieris P, van Mil S, Cresteil D, Fabre M, Hadchouel M, Klomp L, et al. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. J Hepatol 2003; 39: 447452.
  • 4
    Mullenbach R, Bennett A, Tetlow N, Patel N, Hamilton G, Cheng F, et al. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Gut 2005; 54: 829834.
  • 5
    Painter JN, Savander M, Ropponen A, Nupponen N, Riikonen S, Ylikorkala O, et al. Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy. Eur J Hum Genet 2005; 13: 435439.
  • 6
    Pusl T, Beuers U. Intrahepatic cholestasis of pregnancy. Orphanet J Rare Dis 2007; 2: 26.
  • 7
    van Mil SW, van Oort MM, van den Berg I, Berger R, Houwen RH, Klomp LW. Fic1 is expressed at apical membranes of different epithelial cells in the digestive tract and is induced in the small intestine during postnatal development of mice. Pediatr Res 2004; 56: 981987.
  • 8
    Eppens EF, van Mil SW, de Vree JM, Mok KS, Juijn JA, Oude Elferink RP, et al. FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte. J Hepatol 2001; 35: 436443.
  • 9
    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(4 Pt. 1): 768775.
  • 10
    Paulusma CC, Groen A, Kunne C, Ho-Mok KS, Spijkerboer AL, Rudi de WD, et al. Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. HEPATOLOGY 2006; 44: 195204.
  • 11
    Paulusma CC, Folmer DE, Ho-Mok KS, de Waart DR, Hilarius PM, Verhoeven AJ, et al. ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. HEPATOLOGY 2008; 47: 268278.
  • 12
    Cai SY, Gautam S, Nguyen T, Soroka CJ, Rahner C, Boyer JL. ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. Gastroenterology 2009; 136: 10601069.
  • 13
    Groen A, Kunne C, Jongsma G, van den OK, Mok KS, Petruzzelli M, et al. Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice. Gastroenterology 2008; 134: 20912100.
  • 14
    Paulusma CC, de Waart DR, Kunne C, Mok KS, Elferink RP. Activity of the bile salt export pump (ABCB11) is critically dependent on canalicular membrane cholesterol content. J Biol Chem 2009; 284: 99479954.
  • 15
    Alvarez L, Jara P, Sanchez-Sabate E, Hierro L, Larrauri J, Diaz MC, et al. Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1. Hum Mol Genet 2004; 13: 24512460.
  • 16
    Chen F, Ananthanarayanan M, Emre S, Neimark E, Bull LN, Knisely AS, et al. Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology 2004; 126: 756764.
  • 17
    Frankenberg T, Miloh T, Chen FY, Ananthanarayanan M, Sun AQ, Balasubramaniyan N, et al. The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor. HEPATOLOGY 2008; 48: 18961905.
  • 18
    Seppen J, Rijnberg M, Cooreman MP, Oude Elferink RP. Lentiviral vectors for efficient transduction of isolated primary quiescent hepatocytes. J Hepatol 2002; 36: 459465.
  • 19
    Koenderink JB, Geibel S, Grabsch E, De Pont JJ, Bamberg E, Friedrich T. Electrophysiological analysis of the mutated Na,K-ATPase cation binding pocket. J Biol Chem 2003; 278: 5121351222.
  • 20
    Paulusma CC, Bosma PJ, Zaman GJ, Bakker CT, Otter M, Scheffer GL, et al. Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene. Science 1996; 271: 11261128.
  • 21
    Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. HEPATOLOGY 2004; 40: 2738.
  • 22
    Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, et al. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Hum Mol Genet 2004; 13: 881892.
  • 23
    Moller JV, Juul B, le Maire M. Structural organization, ion transport, and energy transduction of P-type ATPases. Biochim Biophys Acta 1996; 1286: 151.
  • 24
    Klomp LW, Bull LN, Knisely AS, van Der Doelen MA, Juijn JA, Berger R, et al. A missense mutation in FIC1 is associated with greenland familial cholestasis. HEPATOLOGY 2000; 32: 13371341.
  • 25
    Catty P, de Kerchove dA, Goffeau A. The complete inventory of the yeast Saccharomyces cerevisiae P-type transport ATPases. FEBS Lett 1997; 409: 325332.
  • 26
    Eiberg H, Norgaard-Pedersen B, Nielsen IM. Cholestasis Familiaris Groenlandica/Byler-like disease in Greenland—a population study. Int J Circumpolar Health 2004; 63(Suppl. 2): 189191.
  • 27
    Andersen S, Okkels H, Krarup H, Laurberg P. Geographical clustering and maintained health in individuals harbouring the mutation for Greenland familial cholestasis: a population-based study. Scand J Gastroenterol 2006; 41: 445450.
  • 28
    Nielsen IM, Eiberg H. Cholestasis Familiaris Groenlandica: an epidemiological, clinical and genetic study. Int J Circumpolar Health 2004; 63(Suppl. 2): 192194.
  • 29
    Tygstrup N, Steig BA, Juijn JA, Bull LN, Houwen RH. Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. HEPATOLOGY 1999; 29: 506508.
  • 30
    Axelsen KB, Palmgren MG. Evolution of substrate specificities in the P-type ATPase superfamily. J Mol Evol 1998; 46: 84101.
  • 31
    Lutsenko S, Kaplan JH. Organization of P-type ATPases: significance of structural diversity. Biochemistry 1995; 34: 1560715613.
  • 32
    Decaens C, Rodriguez P, Bouchaud C, Cassio D. Establishment of hepatic cell polarity in the rat hepatoma-human fibroblast hybrid WIF-B9. A biphasic phenomenon going from a simple epithelial polarized phenotype to an hepatic polarized one. J Cell Sci 1996; 109(Pt 6): 16231635.
  • 33
    Elferink MG, Olinga P, Draaisma AL, Merema MT, Faber KN, Slooff MJ, 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: G1008G1016.
  • 34
    Muhlfeld A, Kubitz R, Dransfeld O, Haussinger D, Wettstein M. Taurine supplementation induces multidrug resistance protein 2 and bile salt export pump expression in rats and prevents endotoxin-induced cholestasis. Arch Biochem Biophys 2003; 413: 3240.
  • 35
    Geier A, Dietrich CG, Voigt S, Ananthanarayanan M, Lammert F, Schmitz A, et al. Cytokine-dependent regulation of hepatic organic anion transporter gene transactivators in mouse liver. Am J Physiol Gastrointest Liver Physiol 2005; 289: G831G841.
  • 36
    Siewert E, Dietrich CG, Lammert F, Heinrich PC, Matern S, Gartung C, et al. Interleukin-6 regulates hepatic transporters during acute-phase response. Biochem Biophys Res Commun 2004; 322: 232238.