 |
 |
GEO help: Mouse over screen elements for information. |
|
| Status |
Public on Mar 06, 2018 |
| Title |
Rational targeting of RNA structure in SMN2 transcripts reverses Spinal Muscular Atrophy molecular phenotypes |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
Marine 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.
|
| |
|
| Overall design |
Examination of 4 total-RNA replicates of DMSO-treated GM03813C fibroblasts (control) and 4 replicates of PK4C9-treated (40 microM, 24 h) GM03813C fibroblasts (GM03813C is a fibroblast cell line derived from a type I SMA patient).
|
| |
|
| Contributor(s) |
Garcia-Lopez A, Wacker A, Tessaro F, Jonker H, Richter C, Comte A, Berntenis N, Schmucki R, Hatje K, Sciarra D, Konieczny P, Fournet G, Faustino I, Orozco M, Artero R, Goekjian P, Metzger F, Ebeling M, Joseph B, Schwalbe H, Scapozza L |
| Citation(s) |
29795225 |
| |
| Submission date |
Jan 26, 2017 |
| Last update date |
May 15, 2019 |
| Contact name |
Roland Schmucki |
| E-mail(s) |
roland.schmucki@roche.com
|
| Organization name |
F. Hoffmann - La Roche AG
|
| Street address |
Grenzacherstrase
|
| City |
Basel |
| ZIP/Postal code |
4058 |
| Country |
Switzerland |
| |
|
| Platforms (1) |
| GPL16791 |
Illumina HiSeq 2500 (Homo sapiens) |
|
| Samples (8)
|
|
| Relations |
| BioProject |
PRJNA368964 |
| SRA |
SRP097892 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE94111_PK4C9_counts.gct.gz |
433.1 Kb |
(ftp)(http) |
GCT |
| GSE94111_PK4C9_rpkms.gct.gz |
525.9 Kb |
(ftp)(http) |
GCT |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data are available on Series record |
|
|
|
|
 |
Less...
More...