Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

Mutations in the postsynaptic scaffolding gene SHANK2 have recently been identified in individuals with autism spectrum disorder (ASD) and intellectual disability. However, the cellular and physiological consequences of these mutations in neurons remain unknown. We have analyzed the functional impac...

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Bibliographic Details

Main Authors:	Berkel, Simone (Author) , Gass, Peter (Author) , Schratt, Gerhard (Author) , Rappold, Gudrun (Author)
Format:	Article (Journal)
Language:	English
Published:	15 January 2012
In:	Human molecular genetics Year: 2012, Volume: 21, Issue: 2, Pages: 344-357
ISSN:	1460-2083
DOI:	10.1093/hmg/ddr470
Online Access:	Verlag, teilw. kostenfrei, Volltext: http://dx.doi.org/10.1093/hmg/ddr470 Verlag, teilw. kostenfrei, Volltext: https://academic-oup-com.ezproxy.medma.uni-heidelberg.de/hmg/article/21/2/344/663222
Author Notes:	Simone Berkel, Wannan Tang, Mario Treviño, Miriam Vogt, Horst Andreas Obenhaus, Peter Gass, Stephen Wayne Scherer, Rolf Sprengel, Gerhard Schratt and Gudrun Anna Rappold