CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids
Our study confirms the presence of a residual function of the S737F variant and its limited response to CFTR modulators while predicting for the first time the potential clinical benefit of Trikafta® for patients carrying the rare T465N variant.
Authors
- Giovanni Taccetti (ORCID: https://orcid.org/0000-0002-9448-5381)
- Paola Melotti
- Cristina Fevola (ORCID: https://orcid.org/0000-0002-3642-8928)
- Vito Terlizzi (ORCID: https://orcid.org/0000-0003-1106-4424)
- Anca Manuela Hristodor
- Karina Kleinfelder
- Claudio Sorio
Institutions
- University of Verona (IT)
- Azienda Ospedaliera Universitaria Integrata Verona (IT)
- Cystic Fibrosis Research Foundation (IT)
- Meyer Children's Hospital (IT)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-09-13
- DOI
- https://doi.org/10.1186/s13023-024-03334-3
- Citations
- 5
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 2.09
Funders
- Cystic Fibrosis Foundation
- Ministero dell’Istruzione, dell’Università e della Ricerca
- Fondazione per la Ricerca sulla Fibrosi Cistica