Article
Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome.
The American journal of psychiatry - 1 Dec 2010
Feyder Michael, Karlsson Rose-Marie, Mathur Poonam, Lyman Matthew, Bock Roland, Momenan Reza, Munasinghe Jeeva, Scattoni Maria Luisa, Ihne Jessica, Camp Marguerite, Graybeal Carolyn, Strathdee Douglas, Begg Alison, Alvarez Veronica A, Kirsch Peter, Rietschel Marcella, Cichon Sven, Walter Henrik, Meyer-Lindenberg Andreas, Grant Seth G N, Holmes Andrew
Abstract excerpt
OBJECTIVE: Research is increasingly linking autism spectrum disorders and other neurodevelopmental disorders to synaptic abnormalities ("synaptopathies"). PSD-95 (postsynaptic density-95, DLG4) orchestrates protein-protein interactions at excitatory synapses and is a major functional bridge interconnecting a neurexinneuroligin-SHANK pathway implicated in autism spectrum disorders. METHOD: The authors...
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