Article
CFTR Function Restoration upon Elexacaftor/Tezacaftor/Ivacaftor Treatment in Patient-Derived Intestinal Organoids with Rare CFTR Genotypes.
International journal of molecular sciences - 26 Sept 2023
Lefferts Juliet W, Bierlaagh Marlou C, Kroes Suzanne, Nieuwenhuijze Natascha D A, Sonneveld van Kooten Heleen N, Niemöller Paul J, Verburg Tibo F, Janssens Hettie M, Muilwijk Danya, van Beuningen Sam F B, van der Ent Cornelis K, Beekman Jeffrey M
Abstract excerpt
Cystic fibrosis (CF) is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. The combination of the CFTR modulators elexacaftor, tezacaftor, and ivacaftor (ETI) enables the effective rescue of CFTR function in people with the most prevalent F508del mutation. However, the functional restoration of rare CFTR variants remains unclear. Here, we use patient-derived intestinal...
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