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

Plass, Jacqueline R M, Mol, Olaf, Heegsma, Janette, Geuken, Mariska, de Bruin, Joost, Elling, Geeske, Müller, Michael, Faber, Klaas Nico and Jansen, Peter L M (2004) A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump. Journal of Hepatology, 40 (1). pp. 24-30. ISSN 0168-8278

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Abstract

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.

Item Type: Article
Uncontrolled Keywords: 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
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
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Depositing User: Pure Connector
Date Deposited: 21 Feb 2014 11:30
Last Modified: 14 Sep 2020 07:05
URI: https://ueaeprints.uea.ac.uk/id/eprint/47744
DOI: 10.1016/S0168-8278(03)00483-5

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