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Series GSE86001 Query DataSets for GSE86001
Status Public on Aug 11, 2017
Title Binding to SMN2 pre-mRNA-Protein complex elicits specificity for small molecule splicing modifiers
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary Small molecule splicing modifiers have been extensively described which target the generic splicing machinery and thus have low target specificity. We have identified potent splicing modifiers with unprecedented high selectively, correcting the splicing deficit of the SMN2 (survival motor neuron 2) gene in Spinal Muscular Atrophy (SMA). Here we show that they directly bind to two sites of the SMN2 pre-mRNA, thereby stabilizing a novel ribonucleoprotein (RNP) complex in the SMN2 gene that is critical for the high target specificity of these small molecules over other genes. In addition to the therapeutic potential of these molecules for treatment of SMA, our work may have wide-ranging consequences for further research to identify small molecules that target splicing correction of specific genes by interacting with tertiary RNA structures.
Overall design mRNA profiling of type I SMA fibroblasts treated with NVS-SM1
Contributor(s) Sivaramakrishnan M, McCarthy K, Huber S, Campagne S, Meier S, Augustin A, Heckel T, Meistermann H, Hug M, Birrer P, Moursy A, Khawaja S, Giroud N, Golling S, Tzouros M, Banfai B, Duran-Pacheco G, Lamerz J, Hsiu Liu Y, Luebbers T, Ratni H, Clery A, Ebeling M, Paushkin S, Krainer AR, Allain F, Metzger F, Berntenis N, Schmucki R
Citation(s) 29133793
Submission date Aug 24, 2016
Last update date May 15, 2019
Contact name Roland Schmucki
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 (6)
GSM2290548 NVS-SM1-10
GSM2290549 NVS-SM1-11
GSM2290550 NVS-SM1-12
BioProject PRJNA339972
SRA SRP082685

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE86001_NVS-SM1_counts.gct.gz 380.0 Kb (ftp)(http) GCT
GSE86001_NVS-SM1_junction_read_counts.txt.gz 12.4 Mb (ftp)(http) TXT
GSE86001_NVS-SM1_nojunction_read_counts.txt.gz 13.8 Mb (ftp)(http) TXT
GSE86001_NVS-SM1_read_counts.txt.gz 14.4 Mb (ftp)(http) TXT
GSE86001_NVS-SM1_rpkms.gct.gz 377.4 Kb (ftp)(http) GCT
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Processed data are available on Series record
Raw data are available in SRA

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