Karina Kleinfelder, Virginia Lotti, Adriana Eramo, Felice Amato, Stefania Lo Cicero, Germana Castelli, Francesca Spadaro, Alessia Farinazzo, Daniele Dell'Orco, Sara Preato, Jessica Conti, Luca Rodella, Francesco Tomba, Angelo Cerofolini, Elena Baldisseri, Marina Bertini, Sonia Volpi, Valeria Rachela Villella, Speranza Esposito, Immacolata Zollo, Giuseppe Castaldo, Carlo Laudanna, Eric J Sorsher, Jeong Hong, Disha Joshi, Garry Cutting, Marco Lucarelli, Paola Melotti, Claudio Sorio
Mutation targeted therapy in cystic fibrosis (CF) is still not eligible for all CF subjects, especially for cases carrying rare variants such as the CFTR genotype W57G/A234D (c.169T>G/c.701C>A). We performed in silico analysis of the effects of these variants on protein stability, which we functionally characterized using colonoids and reprogrammed nasal epithelial cells. The effect of mutations on cystic fibrosis transmembrane conductance regulator (CFTR) protein was analyzed by western blotting, forskolin-induced swelling (FIS), and Ussing chamber analysis...
November 17, 2023: IScience