Article
Analyses of the autism-associated neuroligin-3 R451C mutation in human neurons reveal a gain-of-function synaptic mechanism.
Molecular psychiatry - 1 Jun 2024
Wang Le, Mirabella Vincent R, Dai Rujia, Su Xiao, Xu Ranjie, Jadali Azadeh, Bernabucci Matteo, Singh Ishnoor, Chen Yu, Tian Jianghua, Jiang Peng, Kwan Kevin Y, Pak ChangHui, Liu Chunyu, Comoletti Davide, Hart Ronald P, Chen Chao, Südhof Thomas C, Pang Zhiping P
Abstract excerpt
Mutations in many synaptic genes are associated with autism spectrum disorders (ASD), suggesting that synaptic dysfunction is a key driver of ASD pathogenesis. Among these mutations, the R451C substitution in the NLGN3 gene that encodes the postsynaptic adhesion molecule Neuroligin-3 is noteworthy because it was the first specific mutation linked to ASDs. In mice, the corresponding Nlgn3 R451C-knockin mutation...
Topics
- Humans
- Cell Adhesion Molecules, Neuronal
- Animals
- Nerve Tissue Proteins
- Neurons
- Mice
- Synapses
- Membrane Proteins
- Autism Spectrum Disorder