<i>In silico</i> , <i>in vitro and ex vivo</i> characterization of cystic fibrosis transmembrane conductance regulator pathogenic variants localized in the fourth intracellular loop and their rescue by modulators
Although the observed rescue for L1065P and R1066C was smaller than that of the F508del, it should fall in a range predicted, by various studies, to provide a clinical benefit.
Authors
- Renata Bocciardi (ORCID: https://orcid.org/0000-0001-8415-3802)
- Miro A. Astore (ORCID: https://orcid.org/0000-0002-9896-8831)
- Alexandre Hinzpeter (ORCID: https://orcid.org/0000-0001-6920-7761)
- Emanuela Pesce (ORCID: https://orcid.org/0000-0002-9070-4479)
- B. Chevalier (ORCID: https://orcid.org/0000-0003-0863-6022)
- Federico Cresta (ORCID: https://orcid.org/0000-0002-2483-5374)
- Cristina Fevola (ORCID: https://orcid.org/0000-0002-3642-8928)
- Cristina Pastorino (ORCID: https://orcid.org/0000-0001-8565-4393)
- Maria Cristina Lucanto
- Elvira Sondo (ORCID: https://orcid.org/0000-0003-0971-2082)
- Valeria Daccò (ORCID: https://orcid.org/0000-0002-7497-9165)
- Vito Terlizzi (ORCID: https://orcid.org/0000-0003-1106-4424)
- Stéfano Costa (ORCID: https://orcid.org/0000-0003-1124-3174)
- Nicoletta Pedemonte (ORCID: https://orcid.org/0000-0002-5161-1720)
- Laura Claut
- Federico Zara (ORCID: https://orcid.org/0000-0001-9744-5222)
- Luis J. V. Galietta (ORCID: https://orcid.org/0000-0001-8686-3461)
- Mariateresa Lena (ORCID: https://orcid.org/0000-0001-9661-2885)
- Valeria Tomati (ORCID: https://orcid.org/0000-0003-3761-1916)
- Serdar Kuyucak (ORCID: https://orcid.org/0000-0003-4315-9532)
- Benedetta Fabrizzi (ORCID: https://orcid.org/0000-0003-2358-5470)
- Valeria Capurro (ORCID: https://orcid.org/0000-0002-9740-1171)
- Shafagh A. Waters (ORCID: https://orcid.org/0000-0003-1144-5411)
- Carlo Castellani (ORCID: https://orcid.org/0000-0003-1916-0963)
- Francesca Ficili
- Alice Dighero
Institutions
- Centre National de la Recherche Scientifique (FR)
- The University of Sydney (AU)
- New South Wales Department of Health (AU)
- Inserm (FR)
- Université Paris Cité (FR)
- Istituto Giannina Gaslini (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- UNSW Sydney (AU)
- Institut Necker Enfants Malades (FR)
- Cystic Fibrosis Research Foundation (IT)
- Azienda Ospedaliero Universitaria Ospedali Riuniti (IT)
- Meyer Children's Hospital (IT)
- Sydney Children's Hospital (AU)
- Azienda Ospedaliera Universitaria Policlinico "G. Martino" (IT)
- Telethon Institute Of Genetics And Medicine (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Genoa (IT)
Publication Details
- Journal
- British Journal of Pharmacology
- Published
- 2025-08-20
- DOI
- https://doi.org/10.1111/bph.70176
- Citations
- 2
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 3.04
Funders
- Simons Foundation
- Cystic Fibrosis Foundation
- Ministero della Salute
- Fondazione per la Ricerca sulla Fibrosi Cistica