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Article

Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs.

Stem cell reports - 14 Apr 2015

Yoshida Michiko, Kitaoka Shiho, Egawa Naohiro, Yamane Mayu, Ikeda Ryunosuke, Tsukita Kayoko, Amano Naoki, Watanabe Akira, Morimoto Masafumi, Takahashi Jun, Hosoi Hajime, Nakahata Tatsutoshi, Inoue Haruhisa, Saito Megumu K

Abstract excerpt

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...

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Identifiers

PMID: 25801509
DOI: 10.1016/j.stemcr.2015.02.010
PMCID: PMC4400613

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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