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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

Article first published online: 8 JAN 2014 | DOI: 10.1111/jnc.12638

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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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