Shunhui Wei, Stephanie Li-Ying Soh, Julia Xia, Wei-Yi Ong, Zhiping P. Pang and Weiping Han Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission Journal of Neurochemistry 129
Motoneuropathy-associated endoplasmic reticulum (ER) protein Seipin-N88S mutation disrupts N-glycosylation and decreased the frequency of miniature excitatory and inhibitory post-synaptic currents (PSCs), and the amplitude of evoked excitatory and inhibitory PSCs. The readily releasable pool and synaptic vesicle (SV) release probability were reduced in neurons over-expressing Seipin-N88S, along with decreased number of docked vesicles. We propose that Seipin-N88S mutation impairs synaptic neurotransmission by regulating the docking of synaptic vesicles.
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