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j.stemcr.2015.02.010.pdf | 1.61 MB | Adobe PDF | 見る/開く |
タイトル: | Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs. |
著者: | Yoshida, Michiko Kitaoka, Shiho Egawa, Naohiro Yamane, Mayu Ikeda, Ryunosuke Tsukita, Kayoko Amano, Naoki Watanabe, Akira https://orcid.org/0000-0002-4381-4229 (unconfirmed) Morimoto, Masafumi Takahashi, Jun Hosoi, Hajime Nakahata, Tatsutoshi Inoue, Haruhisa https://orcid.org/0000-0003-4736-9537 (unconfirmed) Saito, Megumu K |
著者名の別形: | 斎藤, 潤 |
発行日: | 14-Apr-2015 |
出版者: | Elsevier Inc. |
誌名: | Stem cell reports |
巻: | 4 |
号: | 4 |
開始ページ: | 561 |
終了ページ: | 568 |
抄録: | 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. |
著作権等: | This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
URI: | http://hdl.handle.net/2433/201898 |
DOI(出版社版): | 10.1016/j.stemcr.2015.02.010 |
PubMed ID: | 25801509 |
出現コレクション: | 学術雑誌掲載論文等 |
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