Analyses of the Autism-Associated Neuroligin-3 R451C Mutation in Human Neurons Reveal a Gain-of-Function Synaptic Mechanism

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Investigators generated human knockin neurons with the NLGN3 R451C and NLGN3 null mutations. Moreover, overexpression of NLGN3 R451C recapitulated the synaptic enhancement in human neurons.
[Molecular Psychiatry]
Abstract