Analyses of the Autism-associated Neuroligin-3 R451C Mutation in Human Neurons Reveals a Gain-of-Function Synaptic Mechanism
Le Wang, Vincent R. Mirabella, Rujia Dai…·Zhiping P. Pang
The paper investigates the impact of the NLGN3 R451C mutation on human neurons, finding it reduces protein levels but enhances excitatory synapses, potentially contributing to ASD pathogenesis.