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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| Hauptverfasser: | , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
15 January 2012
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| In: |
Human molecular genetics
Year: 2012, Jahrgang: 21, Heft: 2, Pages: 344-357 |
| ISSN: | 1460-2083 |
| DOI: | 10.1093/hmg/ddr470 |
| Online-Zugang: | 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 
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| Verfasserangaben: | Simone Berkel, Wannan Tang, Mario Treviño, Miriam Vogt, Horst Andreas Obenhaus, Peter Gass, Stephen Wayne Scherer, Rolf Sprengel, Gerhard Schratt and Gudrun Anna Rappold |