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Article

A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 22 Feb 2017

Stephenson Jason R, Wang Xiaohan, Perfitt Tyler L, Parrish Walker P, Shonesy Brian C, Marks Christian R, Mortlock Douglas P, Nakagawa Terunaga, Sutcliffe James S, Colbran Roger J

Abstract excerpt

Characterizing the functional impact of novel mutations linked to autism spectrum disorder (ASD) provides a deeper mechanistic understanding of the underlying pathophysiological mechanisms. Here we show that a de novo Glu183 to Val (E183V) mutation in the CaMKIIα catalytic domain, identified in a proband diagnosed with ASD, decreases both CaMKIIα substrate phosphorylation and regulatory autophosphorylation, and...

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Identifiers

PMID: 28130356
DOI: 10.1523/JNEUROSCI.2068-16.2017
PMCID: PMC5338762

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