GSE94111 Rational targeting of RNA structure in SMN2 transcripts reverses Spinal Muscular Atrophy molecular phenotypes

Contributors : Amparo Garcia-Lopez ; Anna Wacker ; Francesca Tessaro ; Henry Jonker ; Christian Richter ; Arnaud Comte ; Nikolaos Berntenis ; Roland Schmucki ; Klas Hatje ; Daniel Sciarra ; Piotr Konieczny ; Guy Fournet ; Ignacio Faustino ; Modesto Orozco ; Ruben Artero ; Peter Goekjian ; Friedrich Metzger ; Martin Ebeling ; Beno ît Joseph ; Harald Schwalbe ; Leonardo ScapozzaSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensMarine natural compound homocarbonyltopsentin PK4C9 is a small TSL2-binding molecule which was identified to increase exon 7 splicing to therapeutic levels and rescue downstream molecular alterations in SMA cells. To assess the functionality of the restored SMN protein, we studied whether PK4C9 could modify SMN-mediated splicing events using RNA sequencing data from PK4C9-treated (40 microM, 24 h) vs. DMSO-treated GM03813C fibroblasts. The data was also used to find shared motifs amongst PK4C9-sensitive splicing events, in order to contribute to the description of the mechanism of action of PK4C9 and to help identify off-targets.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research