Article
The PSD protein ProSAP2/Shank3 displays synapto-nuclear shuttling which is deregulated in a schizophrenia-associated mutation.
Experimental neurology - 1 Mar 2014
Grabrucker Stefanie, Proepper Christian, Mangus Katharina, Eckert Matti, Chhabra Resham, Schmeisser Michael J, Boeckers Tobias M, Grabrucker Andreas M
Abstract excerpt
Recently, mutations in ProSAP2/Shank3 have been discovered as one of the genetic factors for schizophrenia (SCZ). Here, we show that the postsynaptic density protein ProSAP2/Shank3 undergoes activity dependent synapse-to-nucleus shuttling in hippocampal neurons. Our study shows that the de novo mutation (R1117X) in ProSAP2/Shank3 that was identified in a patient with SCZ leads to an accumulation of mutated...
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