Article
Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.
Human molecular genetics - 15 Jan 2012
Berkel Simone, Tang Wannan, Treviño Mario, Vogt Miriam, Obenhaus Horst Andreas, Gass Peter, Scherer Stephen Wayne, Sprengel Rolf, Schratt Gerhard, Rappold Gudrun Anna
Abstract excerpt
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 impact caused by two inherited and one de novo SHANK2 mutations from ASD individuals (L1008_P1009dup, T1127M, R462X)....
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