Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study-Reference-Cited by-同舟云学术

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

Published:2021-04 Issue:4 Volume:73 Page:1449-1463
ISSN:0270-9139
Container-title:Hepatology
language:en
Short-container-title:Hepatology

Author:

Amzal Rachida¹,Thébaut Alice¹²,Lapalus Martine¹,Almes Marion¹²,Grosse Brigitte¹,Mareux Elodie¹,Collado‐Hilly Mauricette¹,Davit‐Spraul Anne¹³,Bidou Laure⁴⁵,Namy Olivier⁴,Jacquemin Emmanuel¹²,Gonzales Emmanuel¹²^ORCID

Affiliation:

1. Université Paris‐SaclayInsermPhysiopathogénèse et traitement des maladies du FoieUMR_S 1193 Hepatinov, Orsay France

2. Pediatric Hepatology & Pediatric Liver Transplant Department Centre de Référence de l’Atrésie des Voies Biliaires et des Cholestases Génétiques Filière de Santé des Maladies Rares du Foie de l’enfant et de l’adulte European Reference Network RARE‐LIVERAssistance Publique‐Hôpitaux de ParisFaculty of Medecine Paris‐SaclayCHU Bicêtre Le Kremlin‐Bicêtre France

3. Biochemistry Unit Assistance Publique‐Hôpitaux de ParisCHU Bicêtre Le Kremlin‐Bicêtre France

4. Institute for Integrative Biology of the Cell (I2BC) CEACNRSUniversité Paris‐Saclay Gif sur Yvette cedex France

5. Sorbonne UniversitésUniversité Pierre et Marie CurieUPMC Paris France

Publisher

Wiley

Subject

Hepatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/hep.31476

Reference36 articles.

1. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): Phenotypic differences between PFIC1 and PFIC2 and natural history

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