4.7 Article

In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Gastroenterology & Hepatology

Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study

Rachida Amzal et al.

Summary: The study investigated the ability of drugs to induce readthrough of nonsense mutations in ABCB11 in patients with PFIC2. Gentamicin was found to effectively induce readthrough and lead to the expression of full-length proteins in different cell lines, showing potential for readthrough therapy in selected patients with PFIC2.

HEPATOLOGY (2021)

Letter Genetics & Heredity

In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy

Elodie Mareux et al.

Summary: The study found that the ABCB11 p.A257V variant exhibits varying functional defects in different cells in vitro, and this defect can be fully rescued by Ivacaftor. This suggests that Ivacaftor may be an effective pharmacological tool for patients with ICP and PFIC2 caused by ABCB11 variations affecting ABCB11 function.

ORPHANET JOURNAL OF RARE DISEASES (2021)

Article Multidisciplinary Sciences

Identification of binding sites for ivacaftor on the cystic fibrosis transmembrane conductance regulator

Onofrio Laselva et al.

Summary: The study re-evaluated the binding of VX-770 to CFTR in biological membranes, suggesting that VX-770 may mediate potentiation through multiple sites in the CFTR protein.

ISCIENCE (2021)

Article Chemistry, Medicinal

Targeting different binding sites in the CFTR structures allows to synergistically potentiate channel activity

Lionel Froux et al.

EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY (2020)

Article Gastroenterology & Hepatology

Genotype correlates with the natural history of severe bile salt export pump deficiency

Daan B. E. van Wessel et al.

JOURNAL OF HEPATOLOGY (2020)

Letter Cell Biology

Cryo-EM structure of human bile salts exporter ABCB11

Liang Wang et al.

CELL RESEARCH (2020)

Review Biochemistry & Molecular Biology

The role of the degenerate nucleotide binding site in type I ABC exporters

Thomas Stockner et al.

FEBS LETTERS (2020)

Article Multidisciplinary Sciences

Structural identification of a hotspot on CFTR for potentiation

Fangyu Liu et al.

SCIENCE (2019)

Article Physiology

A common mechanism for CFTR potentiators

Han-I Yeh et al.

JOURNAL OF GENERAL PHYSIOLOGY (2017)

Article Multidisciplinary Sciences

Investigation of the effects of the CFTR potentiator ivacaftor on human P-glycoprotein (ABCB1)

Swathi Lingam et al.

SCIENTIFIC REPORTS (2017)

Article Respiratory System

Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation

Kris De Boeck et al.

JOURNAL OF CYSTIC FIBROSIS (2014)

Review Biochemistry & Molecular Biology

Biosynthesis and trafficking of the bile salt export pump, BSEP: Therapeutic implications of BSEP mutations

Carol J. Soroka et al.

MOLECULAR ASPECTS OF MEDICINE (2014)

Article Multidisciplinary Sciences

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

Kang-Yang Jih et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Review Genetics & Heredity

Progressive familial intrahepatic cholestasis

Anne Davit-Spraul et al.

ORPHANET JOURNAL OF RARE DISEASES (2009)

Article Multidisciplinary Sciences

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

Fredrick Van Goor et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)

Article Gastroenterology & Hepatology

Severe bile salt export pump deficiency:: 82 different ABCB11 mutations in 109 families

Sandra S. Strautnieks et al.

GASTROENTEROLOGY (2008)