A farnesoid X receptor T296I variant disrupts ligand-induced FXR activation and thus bile acid transport in progressive familial intrahepatic cholestasis.

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Title: A farnesoid X receptor T296I variant disrupts ligand-induced FXR activation and thus bile acid transport in progressive familial intrahepatic cholestasis.
Authors: Behrendt A; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University, Düsseldorf, Germany., Bastianelli A; Medical Faculty, Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital Magdeburg, Otto von Guericke University, Magdeburg, Germany., Stindt J; Medical Faculty, Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany., Pfister ED; Pediatric Gastroenterology and Hepatology, Department for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Sgodda M; Department of Gastroenterology, Hepatology, Infectious Diseases and Endocrinology, Hannover Medical School, Hannover, Germany; Research Center for Translational Regenerative Medicine, Hannover Medical School, Hannover, Germany., Cantz T; Department of Gastroenterology, Hepatology, Infectious Diseases and Endocrinology, Hannover Medical School, Hannover, Germany; Research Center for Translational Regenerative Medicine, Hannover Medical School, Hannover, Germany., Hook S; Department of Gastroenterology, Hepatology, Infectious Diseases and Endocrinology, Hannover Medical School, Hannover, Germany; Research Center for Translational Regenerative Medicine, Hannover Medical School, Hannover, Germany., Gopalswamy M; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University, Düsseldorf, Germany., Grau K; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University, Düsseldorf, Germany., Brands S; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University, Düsseldorf, Germany., Dröge C; Medical Faculty, Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital Magdeburg, Otto von Guericke University, Magdeburg, Germany; Medical Faculty, Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany., Stalke A; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Bonus M; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University, Düsseldorf, Germany., Franke S; Institute of Pathology, University Hospital Magdeburg, Otto von Guericke University, Magdeburg, Germany., Baumann U; Research Center for Translational Regenerative Medicine, Hannover Medical School, Hannover, Germany., Keitel V; Medical Faculty, Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital Magdeburg, Otto von Guericke University, Magdeburg, Germany; Medical Faculty, Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany. Electronic address: verena.keitel-anselmino@med.ovgu.de., Gohlke H; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University, Düsseldorf, Germany; Institute of Bio- and Geosciences (IBG-4: Bioinformatics), Forschungszentrum Jülich GmbH, Jülich, Germany. Electronic address: gohlke@uni-duesseldorf.de.
Source: The Journal of biological chemistry [J Biol Chem] 2025 Nov; Vol. 301 (11), pp. 110769. Date of Electronic Publication: 2025 Sep 29.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1083-351X
DOI:10.1016/j.jbc.2025.110769