A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on β cell apoptosis in a patient with Wolfram syndrome.
Raniero Chimienti, Silvia Torchio, Gabriel Siracusano, Valentina Zamarian, Laura Monaco, Marta Tiffany Lombardo, Silvia Pellegrini, Fabio Manenti, Federica Cuozzo, Greta Rossi, Paola Carrera, Valeria Sordi, Vania Broccoli, Riccardo Bonfanti, Giorgio Casari, , Lorenzo Piemonti
This study investigates how a WFS1 splice site mutation affects β cell apoptosis in Wolfram syndrome by analyzing alternative splicing and functional consequences in patient-derived iPSCs.
bioRxiv · Dec 29, 2023 · PreprintGenetics