Bisei Ohkawara, Hiroyuki Tomita, Taro Inoue, Shaochuan Zhang, Shunsuke Kanbara, Hiroyuki Koshimizu, Yuki Miyasaka, Jun-Ichi Takeda, Hiroshi Nishiwaki, Hiroaki Nakashima, Mikako Ito, Akio Masuda, Naoki Ishiguro, Tomoo Ogi, Tamio Ohno, Shiro Imagama, Kinji Ohno
Signal transduction at the neuromuscular junction (NMJ) is compromised in a diverse array of diseases including congenital myasthenic syndromes (CMS). Germline mutations in CHRNE encoding the acetylcholine receptor (AChR) ε subunit are the most common cause of CMS. An active form of vitamin D, calcitriol, binds to vitamin D receptor (VDR) and regulates gene expressions. We found that calcitriol enhanced MuSK phosphorylation, AChR clustering, and myotube twitching in co-cultured C2C12 myotubes and NSC34 motor neurons...
January 16, 2024: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics