Molecular structure of the bile salt export pump gene (Abcb11) reveals a polymorphism between galistone-susceptible and resistant inbred mice

2001 ◽  
Vol 120 (5) ◽  
pp. A1 ◽  
Author(s):  
Anne Figge ◽  
Bšrbel Taenzler ◽  
Beverty J. Paigen ◽  
Siegfried Matern ◽  
Frank Lammert
2021 ◽  
Vol 22 (2) ◽  
pp. 784
Author(s):  
Muhammad Imran Sohail ◽  
Yaprak Dönmez-Cakil ◽  
Dániel Szöllősi ◽  
Thomas Stockner ◽  
Peter Chiba

The bile salt export pump (BSEP/ABCB11) is responsible for the transport of bile salts from hepatocytes into bile canaliculi. Malfunction of this transporter results in progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2) and intrahepatic cholestasis of pregnancy (ICP). Over the past few years, several small molecular weight compounds have been identified, which hold the potential to treat these genetic diseases (chaperones and potentiators). As the treatment response is mutation-specific, genetic analysis of the patients and their families is required. Furthermore, some of the mutations are refractory to therapy, with the only remaining treatment option being liver transplantation. In this review, we will focus on the molecular structure of ABCB11, reported mutations involved in cholestasis and current treatment options for inherited BSEP deficiencies.


2019 ◽  
Author(s):  
J Remetic ◽  
V Mlitz ◽  
V Kunczer ◽  
H Scharnagl ◽  
T Stojakovic ◽  
...  

2013 ◽  
Vol 6 (2) ◽  
pp. 95-103 ◽  
Author(s):  
Hisamitsu Hayashi ◽  
Yuichi Sugiyama

2021 ◽  
Vol 61 (2) ◽  
pp. 587-602
Author(s):  
Kevin S. McLoughlin ◽  
Claire G. Jeong ◽  
Thomas D. Sweitzer ◽  
Amanda J. Minnich ◽  
Margaret J. Tse ◽  
...  

2011 ◽  
Vol 54 ◽  
pp. S360
Author(s):  
S.N. Weber ◽  
M. Mahler ◽  
V. Plantz ◽  
A. Schmitz ◽  
F. Lammert

2012 ◽  
Vol 53 (3) ◽  
pp. 529-539 ◽  
Author(s):  
Dongfang Yang ◽  
Jian Yang ◽  
Deshi Shi ◽  
Da Xiao ◽  
Yi-Tzai Chen ◽  
...  

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