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Title: Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs.
Authors: Yoshida, Michiko
Kitaoka, Shiho
Egawa, Naohiro  kyouindb  KAKEN_id
Yamane, Mayu
Ikeda, Ryunosuke
Tsukita, Kayoko
Amano, Naoki
Watanabe, Akira  kyouindb  KAKEN_id  orcid (unconfirmed)
Morimoto, Masafumi
Takahashi, Jun  kyouindb  KAKEN_id
Hosoi, Hajime
Nakahata, Tatsutoshi
Inoue, Haruhisa  kyouindb  KAKEN_id  orcid (unconfirmed)
Saito, Megumu K
Author's alias: 斎藤, 潤
Issue Date: 14-Apr-2015
Publisher: Elsevier Inc.
Journal title: Stem cell reports
Volume: 4
Issue: 4
Start page: 561
End page: 568
Abstract: 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 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.
Rights: This is an open access article under the CC BY license (
DOI(Published Version): 10.1016/j.stemcr.2015.02.010
PubMed ID: 25801509
Appears in Collections:Journal Articles

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