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| Status |
Public on Feb 03, 2015 |
| Title |
Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs (RNA-Seq) |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations of the survival of motor neuron 1 (SMN1) gene. In the pathogenesis of SMA, pathological changes of the neuromuscular junction (NMJ) precede the motor neuronal loss. Therefore, it is critical to evaluate the NMJ formed by SMA patients’ motor neurons (MNs), and to identify drugs that can restore the normal condition. We generated NMJ-like structures using motor neurons (MNs) derived from SMA patient-specific induced pluripotent stem cells (iPSCs), and found that the clustering of the acetylcholine receptor (AChR) is significantly impaired. Valproic acid and antisense oligonucleotide treatment ameliorated the AChR clustering defects, leading to an increase in the level of full-length SMN transcripts. Thus, the current in vitro model of AChR clustering using SMA patient-derived iPSCs is useful to dissect the pathophysiological mechanisms underlying the development of SMA, and to evaluate the efficacy of new therapeutic approaches.
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| Overall design |
to evaluate the effects of VPA on the expression profiles of the MNs
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| Contributor(s) |
Yoshida M, Watanabe A |
| Citation(s) |
25801509 |
| Submission date |
Feb 02, 2015 |
| Last update date |
May 15, 2019 |
| Contact name |
Megumu Saito |
| E-mail(s) |
msaito@cira.kyoto-u.ac.jp
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| Organization name |
Kyoto University
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| Street address |
53, Shogoin-Kawahara
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| City |
Kyoto |
| ZIP/Postal code |
6068507 |
| Country |
Japan |
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| Platforms (1) |
| GPL16791 |
Illumina HiSeq 2500 (Homo sapiens) |
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| Samples (4)
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| Relations |
| BioProject |
PRJNA274248 |
| SRA |
SRP053043 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE65508_RNAseq_Table.txt.gz |
717.3 Kb |
(ftp)(http) |
TXT |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data are available on Series record |
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