A point mutation in the nuclear speckle protein and splicing factor SRRM2 is associated with amyotrophic lateral sclerosis and causes dysregulation of synapse-associated genes
Qingyu Shi, Chloe Lauder, Jolie M. Miller, Yong-Dong Wang, Noha Elsakrmy, Sofija Volkanoska, Brian D. Freibaum, Hui Peng, Hong Joo Kim, J. Paul Taylor, Haissi Cui
This study identifies a point mutation in SRRM2 as a risk factor for ALS, showing it disrupts protein interactions and dysregulates synapse-related genes.
bioRxiv · Sep 11, 2025 · PreprintMolecular Biology