Výsledky vyhledávání - "Kevin Y. Kwan"

Analyses of the autism-associated neuroligin-3 R451C mutation in human neurons reveal a gain-of-function synaptic mechanism

Autor: Le Wang, Vincent R. Mirabella, Rujia Dai, Xiao Su, Ranjie Xu, Azadeh Jadali, Matteo Bernabucci, Ishnoor Singh, Yu Chen, Jianghua Tian, Peng Jiang, Kevin Y. Kwan, ChangHui Pak, Chunyu Liu, Davide Comoletti, Ronald P. Hart, Chao Chen, Thomas C. Südhof, Zhiping P. Pang

Publikováno v: Molecular Psychiatry.

Mutations in many synaptic genes are associated with autism spectrum disorders (ASDs), suggesting that synaptic dysfunction is a key driver of ASD pathogenesis. Among these mutations, the R451C-substitution in the NLGN3 gene that encodes the postsyna

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb7d16301586fb64023514cc96ad2d4a
https://doi.org/10.1038/s41380-022-01834-x

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