A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump

Jacqueline R M Plass, Olaf Mol, Janette Heegsma, Mariska Geuken, Joost de Bruin, Geeske Elling, Michael Müller, Klaas Nico Faber, Peter L M Jansen

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Progressive familial intrahepatic cholestasis type 2 (PFIC-2) patients have a defect in the hepatocanalicular bile salt secretion. The disease is caused by mutations in the bile salt export pump (BSEP). Ten different missense mutations have been described. In this study, we analysed the effect of the D482G PFIC-2 mutation on BSEP function.
Original languageEnglish
Pages (from-to)24-30
Number of pages7
JournalJournal of Hepatology
Issue number1
Publication statusPublished - Jan 2004


  • ATP-Binding Cassette Transporters
  • Adenosine Triphosphatases
  • Amino Acid Sequence
  • Animals
  • Aspartic Acid
  • Bile Canaliculi
  • Cell Line, Tumor
  • Cholestasis, Intrahepatic
  • Disease Progression
  • Drug Stability
  • Glycine
  • Glycosylation
  • Green Fluorescent Proteins
  • Humans
  • Indicators and Reagents
  • Luminescent Proteins
  • Mice
  • Molecular Sequence Data
  • Mutation, Missense
  • Protein Transport
  • Recombinant Fusion Proteins
  • Taurocholic Acid
  • Temperature

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