Alteration of correct splicing patterns by disruption of an exonic splicing enhancer may be a frequent mechanism by which point mutations cause genetic diseases. Spinal muscular atrophy results ...

An industry-university team reports that continuous treatment of mouse models of spinal muscular atrophy (SMA) with RNA splicing compounds increased life span, normalized body weight, and ...

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 ...

Severe SMA mice tend to be small in relation to wild-type mice, and SC administration of ASO-10-27 has a particularly marked effect on SMN2 splicing in the liver, which contributes about 75% of ...

The pre-mRNA SMN2 splicing modifier risdiplam was administered orally to 41 infants with type 1 spinal muscular atrophy. After 12 months of treatment, 12 infants were able to sit without support ...

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.

SOUTH PLAINFIELD, N.J., Aug. 7, 2014 /PRNewswire/ -- Today the journal Science published results of a preclinical study demonstrating that treatment with orally available RNA splicing modifiers of ...