A mutation in the nuclear speckle and splicing factor SRRM2 is associated with multisystem proteinopathy and causes dysregulation of synapse-associated genes.

Shi Q, Lauder C, Miller JM, Wang YD, Elsakrmy N, Volkanoska S, Freibaum BD, Wuu J, Benatar M, Peng H, Kim HJ, Taylor JP, Cui H. A mutation in the nuclear speckle and splicing factor SRRM2 is associated with multisystem proteinopathy and causes dysregulation of synapse-associated genes. RNA. 2026 Jun 22:rna.080836.125. Online ahead of print. [PubMed link: 42309671]