Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency-Reference-Cited by-同舟云学术

Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency

Published:2020-06-08 Issue:8 Volume:40 Page:1917-1925
ISSN:1478-3223
Container-title:Liver International
language:en
Short-container-title:Liver Int

Author:

Mareux Elodie¹^ORCID,Lapalus Martine¹^ORCID,Amzal Rachida¹,Almes Marion¹²,Aït‐Slimane Tounsia³^ORCID,Delaunay Jean‐Louis³^ORCID,Adnot Pauline¹,Collado‐Hilly Mauricette¹,Davit‐Spraul Anne¹⁴^ORCID,Falguières Thomas¹^ORCID,Callebaut Isabelle⁵^ORCID,Gonzales Emmanuel¹²^ORCID,Jacquemin Emmanuel¹²^ORCID

Affiliation:

1. Inserm Physiopathogénèse et traitement des maladies du foie UMR_S 1193 Hepatinov Université Paris‐Saclay Orsay France

2. Paediatric Hepatology & Paediatric Liver Transplant Department Reference Center for Rare Paediatric Liver Diseases FILFOIE ERN RARE LIVER Assistance Publique‐Hôpitaux de Paris Faculty of Medicine Paris‐Saclay CHU Bicêtre Le Kremlin‐Bicêtre France

3. Inserm Centre de Recherche Saint‐Antoine (CRSA) UMR_S 938 Institute of Cardiometabolism and Nutrition (ICAN) Sorbonne Université Paris France

4. CHU Bicêtre, Biochemistry Unit Assistance Publique‐Hôpitaux de Paris Le Kremlin‐Bicêtre France

5. Muséum National d’Histoire Naturelle UMR CNRS 7590 Institut de Minéralogie de Physique des Matériaux et de Cosmochimie IMPMC Sorbonne Université Paris France

Publisher

Wiley

Subject

Hepatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/liv.14518

Reference34 articles.

1. Progressive familial intrahepatic cholestasis

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

3. The Human ATP-Binding Cassette (ABC) Transporter Superfamily

4. Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families

5. Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing

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