Small Hsps as Therapeutic Targets of Cystic Fibrosis Transmembrane Conductance Regulator Protein

by Stéphanie Simon, Abdel Aissat, Fanny Degrugillier, Benjamin Simonneau, Pascale Fanen, André-Patrick Arrigo
Published 2021-04-01

The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate

by AlNashmi AlAnazi, Ralph Epaud, Humariya Heena, Alix de becdelievre, Abeer Mohammad Miqdad, Pascale Fanen
Published 2017-01-01

COMMD1-mediated ubiquitination regulates CFTR trafficking.

by Loïc Drévillon, Gaëlle Tanguy, Alexandre Hinzpeter, Nicole Arous, Alix de Becdelièvre, Abdel Aissat, Agathe Tarze, Michel Goossens, Pascale Fanen
Published 2011-01-01

Phosphorylation of the Chaperone-Like HspB5 Rescues Trafficking and Function of F508del-CFTR

by Fanny Degrugillier, Abdel Aissat, Virginie Prulière-Escabasse, Lucie Bizard, Benjamin Simonneau, Xavier Decrouy, Chong Jiang, Daniela Rotin, Pascale Fanen, Stéphanie Simon
Published 2020-07-01

Unsolved severe chronic rhinosinusitis elucidated by extensive CFTR genotyping

by Fanny Degrugillier, Stéphanie Simon, Abdel Aissat, Natascha Remus, Chadia Mekki, Xavier Decrouy, Aurélie Hatton, Alexandre Hinzpeter, Brice Hoffmann, Isabelle Sermet‐Gaudelus, Isabelle Callebaut, Pascale Fanen, Virginie Prulière‐Escabasse
Published 2019-11-01

Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive <i>CFTR</i> Genotyping Needed?

by Chadia Mekki, Abdel Aissat, Véronique Mirlesse, Sophie Mayer Lacrosniere, Elsa Eche, Annick Le Floch, Sandra Whalen, Cecile Prud’Homme, Christelle Remus, Benoit Funalot, Vanina Castaigne, Pascale Fanen, Alix de Becdelièvre
Published 2021-04-01

Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.

by Alexandre Hinzpeter, Abdel Aissat, Elvira Sondo, Catherine Costa, Nicole Arous, Christine Gameiro, Natacha Martin, Agathe Tarze, Laurence Weiss, Alix de Becdelièvre, Bruno Costes, Michel Goossens, Luis J Galietta, Emmanuelle Girodon, Pascale Fanen
Published 2010-10-01

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons

by Iwona Pranke, Laure Bidou, Natacha Martin, Sandra Blanchet, Aurélie Hatton, Sabrina Karri, David Cornu, Bruno Costes, Benoit Chevalier, Danielle Tondelier, Emmanuelle Girodon, Matthieu Coupet, Aleksander Edelman, Pascale Fanen, Olivier Namy, Isabelle Sermet-Gaudelus, Alexandre Hinzpeter
Published 2018-02-01

Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

by Raphael Borie, Caroline Kannengiesser, Laurent Gouya, Clairelyne Dupin, Serge Amselem, Ibrahima Ba, Vincent Bunel, Philippe Bonniaud, Diane Bouvry, Aurélie Cazes, Annick Clement, Marie Pierre Debray, Philippe Dieude, Ralph Epaud, Pascale Fanen, Elodie Lainey, Marie Legendre, Aurélie Plessier, Flore Sicre de Fontbrune, Lidwine Wemeau-Stervinou, Vincent Cottin, Nadia Nathan, Bruno Crestani
Published 2019-12-01