論文

査読有り
2015年4月

Modeling the Early Phenotype at the Neuromuscular Junction of Spinal Muscular Atrophy Using Patient-Derived iPSCs

STEM CELL REPORTS
  • Michiko Yoshida
  • Shiho Kitaoka
  • Naohiro Egawa
  • Mayu Yamane
  • Ryunosuke Ikeda
  • Kayoko Tsukita
  • Naoki Amano
  • Akira Watanabe
  • Masafumi Morimoto
  • Jun Takahashi
  • Hajime Hosoi
  • Tatsutoshi Nakahata
  • Haruhisa Inoue
  • Megumu K. Saito
  • 全て表示

4
4
開始ページ
561
終了ページ
568
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1016/j.stemcr.2015.02.010
出版者・発行元
CELL PRESS

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.

リンク情報
DOI
https://doi.org/10.1016/j.stemcr.2015.02.010
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000353043200004&DestApp=WOS_CPL
ID情報
  • DOI : 10.1016/j.stemcr.2015.02.010
  • ISSN : 2213-6711
  • Web of Science ID : WOS:000353043200004

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