Article
Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 3 Nov 2010
Giza Joanna, Urbanski Michael J, Prestori Francesca, Bandyopadhyay Bhaswati, Yam Annie, Friedrich Victor, Kelley Kevin, D'Angelo Egidio, Goldfarb Mitchell
Abstract excerpt
Deletion of the human SHANK3 gene near the terminus of chromosome 22q is associated with Phelan-McDermid syndrome and autism spectrum disorders. Nearly all such deletions also span the tightly linked IB2 gene. We show here that IB2 protein is broadly expressed in the brain and is highly enriched within postsynaptic densities. Experimental disruption of the IB2 gene in mice reduces AMPA and enhances NMDA...
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