Article
Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 1 Jul 2015
Speed Haley E, Kouser Mehreen, Xuan Zhong, Reimers Jeremy M, Ochoa Christine F, Gupta Natasha, Liu Shunan, Powell Craig M
Abstract excerpt
SHANK3 (also known as PROSAP2) is a postsynaptic scaffolding protein at excitatory synapses in which mutations and deletions have been implicated in patients with idiopathic autism, Phelan-McDermid (aka 22q13 microdeletion) syndrome, and other neuropsychiatric disorders. In this study, we have created a novel mouse model of human autism caused by the insertion of a single guanine nucleotide into exon 21...
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