Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy

Hayashi, T; Yano, N; Kora, K; Yokoyama, A; Maizuru, K; Kayaki, T; Nishikawa, K; Osawa, M; Niwa, A; Takenouchi, T; Hijikata, A; Shirai, T; Suzuki, H; Kosaki, K; Saito, MK; Takita, J; Yoshida, T

Yoshida, T (通讯作者)，Kyoto Univ, Dept Pediat, Grad Sch Med, 54 Shogoin Kawahara Cho, Sakyo Ku, Kyoto 6068507, Japan.

HUMAN MOLECULAR GENETICS, 2023; 32 (10): 1683

Abstract

Membrane fusion is mediated by soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins. During neurotransmitter exocyto......

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