Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770)

Functional Rescue of Trafficking-Impaired ABCB4 Mutants by Chemical Chaperones

(2016) Raquel Gordo-Gilart et al.   PLoS One

A functional classification ofABCB4variations causing progressive familial intrahepatic cholestasis type 3

(2015) Jean-Louis Delaunay et al.   HEPATOLOGY

Rescuing Trafficking Mutants of the ATP-binding Cassette Protein, ABCA4, with Small Molecule Correctors as a Treatment for Stargardt Eye Disease

(2015) Inna Sabirzhanova et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

New paradigms in the treatment of hepatic cholestasis: From UDCA to FXR, PXR and beyond

(2015) Ulrich Beuers et al.   JOURNAL OF HEPATOLOGY

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Potentiators Protect G551D but Not ΔF508 CFTR from Thermal Instability

(2014) Xuehong Liu et al.   BIOCHEMISTRY

Full-open and closed CFTR channels, with lateral tunnels from the cytoplasm and an alternative position of the F508 region, as revealed by molecular dynamics

(2014) Jean-Paul Mornon et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Phosphorylation of ABCB4 impacts its function: Insights from disease-causing mutations

(2014) Julien Gautherot et al.   HEPATOLOGY

A single amino acid substitution in CFTR converts ATP to an inhibitory ligand

(2014) Wen-Ying Lin et al.   JOURNAL OF GENERAL PHYSIOLOGY

Revertant mutants modify, but do not rescue, the gating defect of the cystic fibrosis mutant G551D-CFTR

(2014) Zhe Xu et al.   JOURNAL OF PHYSIOLOGY-LONDON

Potentiator ivacaftor abrogates pharmacological correction of  F508 CFTR in cystic fibrosis

(2014) D. M. Cholon et al.   Science Translational Medicine

Efficacy and Safety of Ivacaftor in Patients Aged 6 to 11 Years with Cystic Fibrosis with aG551DMutation

(2013) Jane C. Davies et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: A study of 156 consecutive patients

(2013) Raoul Poupon et al.   HEPATOLOGY

Vx-770 potentiates CFTR function by promoting decoupling between the gating cycle and ATP hydrolysis cycle

(2013) Kang-Yang Jih et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ivacaftor treatment of cystic fibrosis patients with the G551D mutation: a review of the evidence

(2013) Kavitha Kotha et al.   Therapeutic Advances in Respiratory Disease

The histidin-loop is essential for transport activity of human MDR3. A novel mutation of MDR3 in a patient with progressive familial intrahepatic cholestasis type 3

(2012) Tamar Dzagania et al.   GENE

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Potentiator VX-770 (Ivacaftor) Opens the Defective Channel Gate of Mutant CFTR in a Phosphorylation-dependent but ATP-independent Manner

(2012) Paul D. W. Eckford et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ivacaftor potentiation of multiple CFTR channels with gating mutations

(2012) Haihui Yu et al.   Journal of Cystic Fibrosis

Ursodeoxycholic acid and bile-acid mimetics as therapeutic agents for cholestatic liver diseases: An overview of their mechanisms of action

(2012) Raoul Poupon   Clinics and Research in Hepatology and Gastroenterology

Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3

(2011) Isabella Giovannoni et al.   DIGESTIVE AND LIVER DISEASE

Structure of ABC transporters

(2011) Joseph K. Zolnerciks et al.   Essays in Biochemistry

Effects of Cellular, Chemical, and Pharmacological Chaperones on the Rescue of a Trafficking-defective Mutant of the ATP-binding Cassette Transporter Proteins ABCB1/ABCB4

(2011) Julien Gautherot et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

(2011) Bonnie W. Ramsey et al.   NEW ENGLAND JOURNAL OF MEDICINE

ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene

(2010) Gerald U. Denk et al.   HEPATOLOGY RESEARCH

Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTRMutation

(2010) Frank J. Accurso et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Spectrum of Liver Diseases Related toABCB4Gene Mutations: Pathophysiology and Clinical Aspects

(2010) Anne Davit-Spraul et al.   SEMINARS IN LIVER DISEASE

Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3

(2009) Raoul Poupon et al.   LIVER INTERNATIONAL

Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770

(2009) F. Van Goor et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2008) Jean-Louis Delaunay et al.   HEPATOLOGY

Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy

(2007) A. Floreani et al.   DIGESTIVE AND LIVER DISEASE