Associated Papers
Molecular characterisation of the trafficking rescue of defective ABCB4 variants by roscovitine analogues.
Banet M et al.
Scientific Reports, 2026
Clinical, genetic and functional perspectives on ATP-binding cassette subfamily B member 4 variants in five cholestasis adults.
Weng YH et al.
World Journal of Gastroenterology, 2025
Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Wang S et al.
Scientific Reports, 2024
ABC transporters involved in respiratory and cholestatic diseases: From rare to very rare monogenic diseases.
Lakli M et al.
Biochemical Pharmacology, 2024
Identification of new correctors for traffic-defective ABCB4 variants by a high-content screening approach.
Lakli M et al.
Communications Biology, 2024
Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.
Xie S et al.
Frontiers in Pharmacology, 2023
Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.
Wang HH et al.
Genes, 2022
RAB10 Interacts with ABCB4 and Regulates Its Intracellular Traffic.
Ben Saad A et al.
International Journal of Molecular Sciences, 2021
Effect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants.
Ben Saad A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2021
Molecular overview of progressive familial intrahepatic cholestasis.
Amirneni S et al.
World Journal of Gastroenterology, 2020
Structure of the human lipid exporter ABCB4 in a lipid environment.
Olsen JA et al.
Nature Structural & Molecular Biology, 2020
Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3.
Saleem K et al.
Disease Markers, 2020
Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models.
Vauthier V et al.
Scientific Reports, 2019
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
Reichert MC et al.
Seminars in Liver Disease, 2018
Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.
Khabou B et al.
The International Journal of Biochemistry & Cell Biology, 2017
Targeted pharmacotherapies for defective ABC transporters.
Vauthier V et al.
Biochemical Pharmacology, 2017
Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
Park HJ et al.
Scientific Reports, 2016
A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.
Delaunay JL et al.
Hepatology (baltimore, Md.), 2016
MDR3 mutation analysis: A step closer to precision medicine.
Bezerra JA
Hepatology (baltimore, Md.), 2016
Functional Rescue of Trafficking-Impaired ABCB4 Mutants by Chemical Chaperones.
Gordo-Gilart R et al.
Plos One, 2016
ABCB4: Insights from pathobiology into therapy.
Falguières T et al.
Clinics and Research in Hepatology and Gastroenterology, 2014
Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.
Gautherot J et al.
Hepatology (baltimore, Md.), 2014
Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.
Chiba P et al.
Pharmacological Research, 2014
Molecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile salts.
Morita SY et al.
Biomed Research International, 2014
Functional Characterization of ABCB4 Mutations Found in Low Phospholipid-Associated Cholelithiasis (LPAC).
Kim TH et al.
The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2013
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.
Poupon R et al.
Hepatology (baltimore, Md.), 2013
Functional characterization of genetic variations in the MDR3 promoter.
Jang GH et al.
Biochemical and Biophysical Research Communications, 2013
Effects of cellular, chemical, and pharmacological chaperones on the rescue of a trafficking-defective mutant of the ATP-binding cassette transporter proteins ABCB1/ABCB4.
Gautherot J et al.
The Journal of Biological Chemistry, 2012
Ubiquitin-mediated proteasomal degradation of ABC transporters: a new aspect of genetic polymorphisms and clinical impacts.
Nakagawa H et al.
Journal of Pharmaceutical Sciences, 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
Cholestatic liver disease in children.
Santos JL et al.
Current Gastroenterology Reports, 2010
A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.
Delaunay JL et al.
Hepatology (baltimore, Md.), 2009
Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).
Oude Elferink RP et al.
Pflugers Archiv : European Journal of Physiology, 2007
The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.
Jacquemin E et al.
Gastroenterology, 2001