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

doi:10.1016/S0168-8278(03)00483-5

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

Research output: Contribution to journal › Article › peer-review

75 Citations (Scopus)

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.

Original language	English
Pages (from-to)	24-30
Number of pages	7
Journal	Journal of Hepatology
Volume	40
Issue number	1
DOIs	https://doi.org/10.1016/S0168-8278(03)00483-5
Publication status	Published - Jan 2004

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

Access to Document

10.1016/S0168-8278(03)00483-5

Cite this

@article{0fc5c9eaf1a54fbbb08f8d8dc0b2a244,

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

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.",

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",

author = "Plass, {Jacqueline R M} and Olaf Mol and Janette Heegsma and Mariska Geuken and {de Bruin}, Joost and Geeske Elling and Michael M{\"u}ller and Faber, {Klaas Nico} and Jansen, {Peter L M}",

year = "2004",

month = jan,

doi = "10.1016/S0168-8278(03)00483-5",

language = "English",

volume = "40",

pages = "24--30",

journal = "Journal of Hepatology",

issn = "0168-8278",

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TY - JOUR

T1 - A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump

AU - Plass, Jacqueline R M

AU - Mol, Olaf

AU - Heegsma, Janette

AU - Geuken, Mariska

AU - de Bruin, Joost

AU - Elling, Geeske

AU - Müller, Michael

AU - Faber, Klaas Nico

AU - Jansen, Peter L M

PY - 2004/1

Y1 - 2004/1

N2 - 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.

AB - 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.

KW - ATP-Binding Cassette Transporters

KW - Adenosine Triphosphatases

KW - Amino Acid Sequence

KW - Animals

KW - Aspartic Acid

KW - Bile Canaliculi

KW - Cell Line, Tumor

KW - Cholestasis, Intrahepatic

KW - Disease Progression

KW - Drug Stability

KW - Glycine

KW - Glycosylation

KW - Green Fluorescent Proteins

KW - Humans

KW - Indicators and Reagents

KW - Luminescent Proteins

KW - Mice

KW - Molecular Sequence Data

KW - Mutation, Missense

KW - Protein Transport

KW - Recombinant Fusion Proteins

KW - Taurocholic Acid

KW - Temperature

U2 - 10.1016/S0168-8278(03)00483-5

DO - 10.1016/S0168-8278(03)00483-5

M3 - Article

C2 - 14672610

VL - 40

SP - 24

EP - 30

JO - Journal of Hepatology

JF - Journal of Hepatology

SN - 0168-8278

IS - 1

ER -