Molecular BiologybioRxivPreprint
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…·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.
DOI 10.1101/2025.09.11.675713