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PMID:20952458

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Citation

Feyder, M, Karlsson, RM, Mathur, P, Lyman, M, Bock, R, Momenan, R, Munasinghe, J, Scattoni, ML, Ihne, J, Camp, M, Graybeal, C, Strathdee, D, Begg, A, Alvarez, VA, Kirsch, P, Rietschel, M, Cichon, S, Walter, H, Meyer-Lindenberg, A, Grant, SG and Holmes, A (2010) Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome. Am J Psychiatry 167:1508-17

Abstract

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.

Links

PubMed PMC3146008 Online version:10.1176/appi.ajp.2010.10040484

Keywords

Adult; Amygdala/pathology; Amygdala/physiopathology; Amygdala/ultrastructure; Animals; Behavior, Animal; Child; Child Development Disorders, Pervasive/genetics; Child Development Disorders, Pervasive/pathology; Dendritic Spines/ultrastructure; Disease Models, Animal; Female; Gene Deletion; Genetic Variation; Guanylate Kinase; Humans; Intracellular Signaling Peptides and Proteins/genetics; Male; Membrane Proteins/genetics; Mice; Mice, Inbred C57BL; Mice, Knockout; Nerve Tissue Proteins/metabolism; Neural Pathways/pathology; Parietal Lobe/pathology; Phenotype; Polymorphism, Single Nucleotide; Prosencephalon/metabolism; Williams Syndrome/genetics; Williams Syndrome/pathology; Williams Syndrome/physiopathology

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:DLG4

involved_in

GO:0035641: locomotory exploration behavior

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:DLG4

involved_in

GO:2000821: regulation of grooming behavior

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:DLG4

involved_in

GO:0050885: neuromuscular process controlling balance

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:DLG4

involved_in

GO:0060997: dendritic spine morphogenesis

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:DLG4

involved_in

GO:0071625: vocalization behavior

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:DLG4

involved_in

GO:0035176: social behavior

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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