A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome.
Chimienti R, Torchio S, Siracusano G, Zamarian V, Monaco L, Lombardo MT, Pellegrini S, Manenti F, Cuozzo F, Rossi G, Carrera P, Sordi V, Broccoli V, Bonfanti R, Casari G, Frontino G, Piemonti L.
Chimienti R, et al. Among authors: piemonti l.
Diabetologia. 2025 Jan;68(1):128-151. doi: 10.1007/s00125-024-06307-0. Epub 2024 Nov 9.
Diabetologia. 2025.
PMID: 39520565
Free PMC article.