Associated Papers
An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.
Bell EL et al.
Journal of Lipid Research, 2025
Correction of a Traffic-Defective Missense ABCB11 Variant Responsible for Progressive Familial Intrahepatic Cholestasis Type 2.
Lapalus M et al.
International Journal of Molecular Sciences, 2025
The effect of 4-phenylbutyrate and sodium 4-phenylbutyrate on genetic mutation diseases: A meta-analysis.
Tang W et al.
Medicine, 2025
Cell-based BSEP trans-inhibition: A novel, non-invasive test for diagnosis of antibody-induced BSEP deficiency.
Stindt J et al.
Jhep Reports : Innovation in Hepatology, 2023
In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators.
Mareux E et al.
International Journal of Molecular Sciences, 2022
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.
Vitale G et al.
Cancers, 2022
The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies.
Sohail MI et al.
International Journal of Molecular Sciences, 2021
Molecular overview of progressive familial intrahepatic cholestasis.
Amirneni S et al.
World Journal of Gastroenterology, 2020
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.
Li LT et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
Molecular Modelling and Evaluation of Hidden Information in ABCB11 Gene Mutations.
M Z et al.
Journal of Biomedical Physics & Engineering, 2019
Alloimmunity and Cholestasis After Liver Transplantation in Children With Progressive Familial Intrahepatic Cholestasis.
Krebs-Schmitt D et al.
Journal of Pediatric Gastroenterology and Nutrition, 2019
Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations.
Liu T et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2018
Targeted pharmacotherapies for defective ABC transporters.
Vauthier V et al.
Biochemical Pharmacology, 2017
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report.
Masahata K et al.
Transplantation Proceedings, 2016
Recent advances in the exploration of the bile salt export pump (BSEP/ABCB11) function.
Telbisz Á et al.
Expert Opinion on Therapeutic Targets, 2016
Hypothyroidism Associated with ATP8B1 Deficiency.
Li L et al.
The Journal of Pediatrics, 2015
Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrate.
Gonzales E et al.
Hepatology (baltimore, Md.), 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis.
Kubitz R et al.
Clinical Reviews in Allergy & Immunology, 2015
Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene.
Davit-Spraul A et al.
Molecular Genetics and Metabolism, 2014
Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations.
Soroka CJ et al.
Molecular Aspects of Medicine, 2014
Ursodeoxycholic acid stabilizes the bile salt export pump in the apical membrane in MDCK II cells.
Kagawa T et al.
Journal of Gastroenterology, 2014
A novel mutation within a transmembrane helix of the bile salt export pump (BSEP, ABCB11) with delayed development of cirrhosis.
Stindt J et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2013
The bile salt export pump (BSEP) in health and disease.
Kubitz R et al.
Clinics and Research in Hepatology and Gastroenterology, 2012
Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies.
Evason K et al.
The American Journal of Surgical Pathology, 2011
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Living-related liver transplantation for siblings with progressive familial intrahepatic cholestasis 2, with novel genetic findings.
Shimizu H et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2011
Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2.
Maggiore G et al.
Journal of Hepatology, 2010
Genetics of cholestatic liver disease in 2010.
Karlsen TH et al.
Current Opinion in Gastroenterology, 2010
ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
Davit-Spraul A et al.
Hepatology (baltimore, Md.), 2010
The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease.
Lam P et al.
Seminars in Liver Disease, 2010
Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability.
Ho RH et al.
Pharmacogenetics and Genomics, 2010
De novo bile salt transporter antibodies as a possible cause of recurrent graft failure after liver transplantation: a novel mechanism of cholestasis.
Keitel V et al.
Hepatology (baltimore, Md.), 2009
Degradation of the bile salt export pump at endoplasmic reticulum in progressive familial intrahepatic cholestasis type II.
Wang L et al.
Hepatology (baltimore, Md.), 2008
Update on progressive familial intrahepatic cholestasis.
Alissa FT et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells.
Kagawa T et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2008
Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases.
Lam P et al.
American Journal of Physiology. Cell Physiology, 2007
Therapy for hepatocyte transporter trafficking mutations: the time is now.
Ananthanarayanan M
Hepatology (baltimore, Md.), 2007
The bile salt export pump.
Stieger B et al.
Pflugers Archiv : European Journal of Physiology, 2007
Bile salt transporters: molecular characterization, function, and regulation.
Trauner M et al.
Physiological Reviews, 2003
Pharmacogenetics of hepatocellular transporters.
Pauli-Magnus C et al.
Pharmacogenetics, 2003
The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II.
Wang L et al.
The Journal of Clinical Investigation, 2002
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
Strautnieks SS et al.
Nature Genetics, 1998