Associated Papers
Molecular characterisation of the trafficking rescue of defective ABCB4 variants by roscovitine analogues.
Banet M et al.
Scientific Reports, 2026
Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.
Sharabati I et al.
Annals of Medicine and Surgery (2012), 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
Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.
Gonzales E et al.
Jhep Reports : Innovation in Hepatology, 2023
Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.
Xie S et al.
Frontiers in Pharmacology, 2023
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
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
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
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