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Series GSE207181 Query DataSets for GSE207181
Status Public on Jun 17, 2024
Title Therapeutic strategy for spinal muscular atrophy by combining gene supplementation and genome editing
Organism Mus musculus
Experiment type Expression profiling by high throughput sequencing
Summary Defect in the SMN1 gene causes spinal muscular atrophy (SMA), which shows loss of motor nerve cells, muscle weakness and atrophy. While current treatment strategies including small molecules or viral vectors improved motor function and survival, an ultimate treatment is highly challenging to correct the endogenous mutations by genome-editing technologies. We have developed the CRISPR-Cas9 based homology-independent targeted integration (HITI) strategy, which allowed for DNA knock-in in both dividing and non-dividing cells in vivo. Here, we demonstrated a gene correction of mutant mSmn1 by using the HITI strategy to treat SMA model mice. To provide the long-term therapeutic benefits of gene correction, we established a unique approach to treat SMA by combination with gene cDNA supplementation and editing (Gene-DUET). As a proof of concept of therapeutic approach for SMA, we demonstrated the advantageous effects including motor function and survival improvement by Gene-DUET strategy in SMA model mice. The Gene-DUET represents a powerful strategy for treating inherited diseases especially for neurodegenerative disorders as well as neuromuscular diseases.
Overall design To investigate the global transcriptional alterations by HITI, cDNA and DUET treatments in SMA mice compared to untreated SMA mice and heterozygous mice.
Contributor(s) Hatanaka F, Suzuki K, Shojima K, Yu J, Takahashi Y, Sakamoto A, Prieto J, Shokhirev MN, Esteban CR, Delicado EN, Belmonte JI
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Submission date Jun 29, 2022
Last update date Jun 17, 2024
Contact name Jingting Yu
Organization name Salk Institute for Biological Studies
Street address 10010 N Torrey Pines Rd
City La Jolla
State/province CA
ZIP/Postal code 92037
Country USA
Platforms (1)
GPL24247 Illumina NovaSeq 6000 (Mus musculus)
Samples (17)
GSM6280926 SMA mouse Smn1_Hetero Rep1
GSM6280927 SMA mouse Smn1_Hetero Rep2
GSM6280928 SMA mouse Smn1_Hetero Rep3
BioProject PRJNA854081

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Supplementary file Size Download File type/resource
GSE207181_kallisto_raw_count.txt.gz 1.6 Mb (ftp)(http) TXT
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