Article
Autism-associated mutation inhibits protein kinase C-mediated neuroligin-4X enhancement of excitatory synapses.
Proceedings of the National Academy of Sciences of the United States of America - 24 Feb 2015
Bemben Michael A, Nguyen Quynh-Anh, Wang Tongguang, Li Yan, Nicoll Roger A, Roche Katherine W
Abstract excerpt
Autism spectrum disorders (ASDs) comprise a highly heritable, multifarious group of neurodevelopmental disorders, which are characterized by repetitive behaviors and impairments in social interactions. Point mutations have been identified in X-linked Neuroligin (NLGN) 3 and 4X genes in patients with ASDs and all of these reside in their extracellular domains except for a single point mutation in the cytoplasmic...
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