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PMID:21167025

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Citation

Bozdagi, O, Sakurai, T, Papapetrou, D, Wang, X, Dickstein, DL, Takahashi, N, Kajiwara, Y, Yang, M, Katz, AM, Scattoni, ML, Harris, MJ, Saxena, R, Silverman, JL, Crawley, JN, Zhou, Q, Hof, PR and Buxbaum, JD (2010) Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication. Mol Autism 1:15

Abstract

SHANK3 is a protein in the core of the postsynaptic density (PSD) and has a critical role in recruiting many key functional elements to the PSD and to the synapse, including components of α-amino-3-hydroxyl-5-methyl-4-isoxazole-propionic acid (AMPA), metabotropic glutamate (mGlu) and N-methyl-D-aspartic acid (NMDA) glutamate receptors, as well as cytoskeletal elements. Loss of a functional copy of the SHANK3 gene leads to the neurobehavioral manifestations of 22q13 deletion syndrome and/or to autism spectrum disorders. The goal of this study was to examine the effects of haploinsufficiency of full-length Shank3 in mice, focusing on synaptic development, transmission and plasticity, as well as on social behaviors, as a model for understanding SHANK3 haploinsufficiency in humans.

Links

PubMed PMC3019144 Online version:10.1186/2040-2392-1-15

Keywords


Significance

Annotations

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

HUMAN:SHAN3

involved_in

GO:0071625: vocalization behavior

ECO:0000250: sequence similarity evidence used in manual assertion

UniProtKB:Q4ACU6

P

Seeded From UniProt

complete

MOUSE:SHAN3

involved_in

GO:0071625: vocalization behavior

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:SHAN3

involved_in

GO:0060997: dendritic spine morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:SHAN3

involved_in

GO:0048170: positive regulation of long-term neuronal synaptic plasticity

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:SHAN3

involved_in

GO:0051968: positive regulation of synaptic transmission, glutamatergic

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:SHAN3

involved_in

GO:0051835: positive regulation of synapse structural plasticity

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:SHAN3

involved_in

GO:1900273: positive regulation of long-term synaptic potentiation

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:SHAN3

involved_in

GO:2000463: positive regulation of excitatory postsynaptic potential

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:SHAN3

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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