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Journal Abstract Search

137 related items for PubMed ID: 19918981

  • 1. Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.
    van der Velden LM, Stapelbroek JM, Krieger E, van den Berghe PV, Berger R, Verhulst PM, Holthuis JC, Houwen RH, Klomp LW, van de Graaf SF.
    Hepatology; 2010 Jan; 51(1):286-96. PubMed ID: 19918981
    [Abstract] [Full Text] [Related]

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  • 3. Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis.
    van der Woerd WL, Wichers CG, Vestergaard AL, Andersen JP, Paulusma CC, Houwen RH, van de Graaf SF.
    J Hepatol; 2016 Jun; 64(6):1339-47. PubMed ID: 26879107
    [Abstract] [Full Text] [Related]

  • 4. Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages.
    Mizutani A, Sabu Y, Naoi S, Ito S, Nakano S, Minowa K, Mizuochi T, Ito K, Abukawa D, Kaji S, Sasaki M, Muroya K, Azuma Y, Watanabe S, Oya Y, Inomata Y, Fukuda A, Kasahara M, Inui A, Takikawa H, Kusuhara H, Bessho K, Suzuki M, Togawa T, Hayashi H.
    Hepatol Commun; 2021 Jan; 5(1):52-62. PubMed ID: 33437900
    [Abstract] [Full Text] [Related]

  • 5. The lipid flippase heterodimer ATP8B1-CDC50A is essential for surface expression of the apical sodium-dependent bile acid transporter (SLC10A2/ASBT) in intestinal Caco-2 cells.
    van der Mark VA, de Waart DR, Ho-Mok KS, Tabbers MM, Voogt HW, Oude Elferink RP, Knisely AS, Paulusma CC.
    Biochim Biophys Acta; 2014 Dec; 1842(12 Pt A):2378-86. PubMed ID: 25239307
    [Abstract] [Full Text] [Related]

  • 6. Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
    Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN.
    Hepatology; 2004 Jul; 40(1):27-38. PubMed ID: 15239083
    [Abstract] [Full Text] [Related]

  • 7. A flippase-independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells.
    Verhulst PM, van der Velden LM, Oorschot V, van Faassen EE, Klumperman J, Houwen RH, Pomorski TG, Holthuis JC, Klomp LW.
    Hepatology; 2010 Jun; 51(6):2049-60. PubMed ID: 20512993
    [Abstract] [Full Text] [Related]

  • 8. Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
    van den Berghe PV, Stapelbroek JM, Krieger E, de Bie P, van de Graaf SF, de Groot RE, van Beurden E, Spijker E, Houwen RH, Berger R, Klomp LW.
    Hepatology; 2009 Dec; 50(6):1783-95. PubMed ID: 19937698
    [Abstract] [Full Text] [Related]

  • 9. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion.
    Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP, Bull LN, Elferink RP, Freimer NB.
    Hum Mol Genet; 2004 Apr 15; 13(8):881-92. PubMed ID: 14976163
    [Abstract] [Full Text] [Related]

  • 10. FIC1 disease: a spectrum of intrahepatic cholestatic disorders.
    van Mil SW, Klomp LW, Bull LN, Houwen RH.
    Semin Liver Dis; 2001 Nov 15; 21(4):535-44. PubMed ID: 11745041
    [Abstract] [Full Text] [Related]

  • 11. Intestinal bile salt absorption in Atp8b1 deficient mice.
    Groen A, Kunne C, Paulusma CC, Kramer W, Agellon LB, Bull LN, Oude Elferink RP.
    J Hepatol; 2007 Jul 15; 47(1):114-22. PubMed ID: 17448567
    [Abstract] [Full Text] [Related]

  • 12. Case Report: A Rare Heterozygous ATP8B1 Mutation in a BRIC1 Patient: Haploinsufficiency?
    Bing H, Li YL, Li D, Zhang C, Chang B.
    Front Med (Lausanne); 2022 Jul 15; 9():897108. PubMed ID: 35783636
    [Abstract] [Full Text] [Related]

  • 13. ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity.
    Paulusma CC, Folmer DE, Ho-Mok KS, de Waart DR, Hilarius PM, Verhoeven AJ, Oude Elferink RP.
    Hepatology; 2008 Jan 15; 47(1):268-78. PubMed ID: 17948906
    [Abstract] [Full Text] [Related]

  • 14. Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport.
    Paulusma CC, Groen A, Kunne C, Ho-Mok KS, Spijkerboer AL, Rudi de Waart D, Hoek FJ, Vreeling H, Hoeben KA, van Marle J, Pawlikowska L, Bull LN, Hofmann AF, Knisely AS, Oude Elferink RP.
    Hepatology; 2006 Jul 15; 44(1):195-204. PubMed ID: 16799980
    [Abstract] [Full Text] [Related]

  • 15. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
    Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB.
    Nat Genet; 1998 Mar 15; 18(3):219-24. PubMed ID: 9500542
    [Abstract] [Full Text] [Related]

  • 16. Novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1.
    Copeland E, Renault N, Renault M, Dyack S, Bulman DE, Bedard K, Otley A, Magee F, Acott P, Greer WL.
    J Gastroenterol Hepatol; 2013 Mar 15; 28(3):560-4. PubMed ID: 23033845
    [Abstract] [Full Text] [Related]

  • 17. 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 JL, Durand-Schneider AM, Delautier D, Rada A, Gautherot J, Jacquemin E, Aït-Slimane T, Maurice M.
    Hepatology; 2009 Apr 15; 49(4):1218-27. PubMed ID: 19185004
    [Abstract] [Full Text] [Related]

  • 18. Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1.
    Suzuki H, Arinaga-Hino T, Sano T, Mihara Y, Kusano H, Mizuochi T, Togawa T, Ito S, Ide T, Kuwahara R, Amano K, Kawaguchi T, Yano H, Kage M, Koga H, Torimura T.
    Front Med (Lausanne); 2022 Apr 15; 9():891659. PubMed ID: 35572954
    [Abstract] [Full Text] [Related]

  • 19. Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.
    van der Woerd WL, Mulder J, Pagani F, Beuers U, Houwen RH, van de Graaf SF.
    Hepatology; 2015 Apr 15; 61(4):1382-91. PubMed ID: 25421123
    [Abstract] [Full Text] [Related]

  • 20. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
    Müllenbach R, Bennett A, Tetlow N, Patel N, Hamilton G, Cheng F, Chambers J, Howard R, Taylor-Robinson SD, Williamson C.
    Gut; 2005 Jun 15; 54(6):829-34. PubMed ID: 15888793
    [Abstract] [Full Text] [Related]

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