Panelists discuss how splice modifiers work by enhancing protein production from the SMN2 gene, with risdiplam (Evrysdi) ...

Figure 1: High-score SR protein motifs in exon 7 of SMN1 and SMN2. Figure 3 ... stems from inefficient recognition of an exonic splicing enhancer by the splicing factor SF2/ASF.

The study used chemical screening and optimization to identify orally available small molecules that selectively alter the splicing of the SMN2 pre-mRNA to produce stable full-length SMN protein ...

Today the journal Science published results of a preclinical study demonstrating that treatment with orally available RNA splicing modifiers of the SMN2 gene starting early after birth is ...

Studies to correct SMN2 splicing implicate lack of IGF1 in pathogenesis of disease. Scientists have used an antisense oligonucleotide (ASO) to significantly prolong the lifespan and improve motor ...

The drug is now approved for babies below two months with SMA. Evrysdi is a survival motor neuron 2 (SMN2) splicing modifier designed to treat SMA caused by mutations in chromosome 5q that lead to ...

Today the journal Science published results of a preclinical study demonstrating that treatment with orally available RNA splicing modifiers of the SMN2 gene starting early after birth is ...

To view the animation related to the study, please visit: SMA video "The investigational compounds used in this study represent the first orally available SMN2 splicing modifiers for SMA ...