Alternative splicing of SORBS1 affects neuromuscular junction formation and stability in myotonic dystrophy type 1
Caroline Hermitte, Hortense de Calbiac, Gilles Moulay, Antoine Mérien, Jeanne Lainé, Hélène Polvèche, Michel Cailleret, Stéphane Vassilopoulos, Edor Kabashi, Denis Furling, Cécile Martinat, Morgan Gazzola
This study shows that abnormal splicing of SORBS1 exon 25 in DM1 contributes to neuromuscular junction formation and stability issues in skeletal muscle.
bioRxiv · Dec 23, 2024 · PreprintMolecular Biology