| ISSN |
1007-9327 (print) and 2219-2840 (online) |
| Open Access |
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Gastroenterology & Hepatology |
| Manuscript Type |
Basic Study |
| Article Title |
Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation
|
| Manuscript Source |
Invited Manuscript |
| All Author List |
Philipp Ellinger, Jan Stindt, Carola Dröge, Katharina Sattler, Claudia Stross, Stefanie Kluge, Diran Herebian, Sander HJ Smits, Martin Burdelski, Sebastian Schulz-Jürgensen, Antje Ballauff, Jan Schulte am Esch, Ertan Mayatepek, Dieter Häussinger, Ralf Kubitz and Lutz Schmitt |
| Funding Agency and Grant Number |
|
| Corresponding Author |
Lutz Schmitt, Doctor, Doctor, Professor, Institute of Biochemistry, Heinrich-Heine-University Düsseldorf, Universitätsstr. 1, Düsseldorf 40225, Germany. lutz.schmitt@hhu.de |
| Key Words |
Familial intrahepatic cholestasis type 2; Partial external biliary diversion; Bile salt export pump; ATP binding cassette transporter; Intrahepatic cholestasis |
| Core Tip |
PFIC-2, a severe form of BSEP deficiency, is caused by mutations of the bile salt export pump (BSEP), an ATP binding cassette transporter exclusively expressed in hepatocytes. In this study we determine the functional impact of two distinct BSEP mutations on transporter localization and function in two unrelated PFIC-2 patients showing a drastically different response to partial external biliary diversion (PEBD). Our data demonstrate that residual bile salt transport by BSEP is likely required for a beneficial outcome of PEBD. |
| Publish Date |
2017-08-07 09:17 |
| Citation |
Ellinger P, Stindt J, Dröge C, Sattler K, Stross C, Kluge S, Herebian D, Smits SHJ, Burdelski M, Schulz-Jürgensen S, Ballauff A, Schulte am Esch J, Mayatepek E, Häussinger D, Kubitz R, Schmitt L. Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation. World J Gastroenterol 2017; 23(29): 5295-5303 |
| URL |
http://www.wjgnet.com/1007-9327/full/v23/i29/5295.htm |
| DOI |
http://dx.doi.org/10.3748/wjg.v23.i29.5295 |
