Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3 (Q24596677)

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1904717

negative regulation of AMPA glutamate receptor clustering

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1904718

positive regulation of AMPA glutamate receptor clustering

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1904719

Glutamate receptor, ionotropic, AMPA1 (alpha 1)

1 reference

Glutamate receptor, ionotropic, AMPA2 (alpha 2)

1 reference

Glutamate receptor, ionotropic, NMDA2A (epsilon 1)

1 reference

DLG associated protein 1

1 reference

Homer scaffolding protein 1

1 reference

SH3 and multiple ankyrin repeat domains 3

1 reference

author name string

Xiaoming Wang

1

0 references

Portia A McCoy

2

0 references

Ramona M Rodriguiz

3

0 references

Yanzhen Pan

4

0 references

H Shawn Je

5

0 references

Adam C Roberts

6

0 references

Caroline J Kim

7

0 references

Janet Berrios

8

0 references

Jennifer S Colvin

9

0 references

Danielle Bousquet-Moore

10

0 references

Isabel Lorenzo

11

0 references

Gangyi Wu

12

0 references

Richard J Weinberg

13

0 references

Michael D Ehlers

14

0 references

Benjamin D Philpot

15

0 references

Arthur L Beaudet

16

0 references

William C Wetsel

17

0 references

Yong-Hui Jiang

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

18

0 references

language of work or name

English

0 references

publication date

1 August 2011

0 references

published in

Human Molecular Genetics

0 references

volume

20

0 references

issue

15

0 references

page(s)

3093-108

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Functional impact of global rare copy number variation in autism spectrum disorders

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Synaptic AMPA receptor plasticity and behavior.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Deletion 22q13.3 syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Structural variation of chromosomes in autism spectrum disorder

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Contribution of SHANK3 mutations to autism spectrum disorder

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Cortico-striatal synaptic defects and OCD-like behaviours in Sapap3-mutant mice.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Autism and autism spectrum disorders: diagnostic issues for the coming decade

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

The Epidemiology of Autism Spectrum Disorders *

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

DISC1 regulates new neuron development in the adult brain via modulation of AKT-mTOR signaling through KIAA1212

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Direct interaction of post-synaptic density-95/Dlg/ZO-1 domain-containing synaptic molecule Shank3 with GluR1 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptor

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

FISH-mapping of a 100-kb terminal 22q13 deletion

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Synaptic scaffolding proteins in rat brain. Ankyrin repeats of the multidomain Shank protein family interact with the cytoskeletal protein alpha-fodrin

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Autism spectrum disorders

24 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

24 March 2017

https://api.crossref.org/works/10.1093%2FHMG%2FDDR212

The Shank family of scaffold proteins

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Asperger's syndrome: a clinical account

24 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

24 March 2017

https://api.crossref.org/works/10.1093%2FHMG%2FDDR212

Sociability and motor functions in Shank1 mutant mice

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Degradation of postsynaptic scaffold GKAP and regulation of dendritic spine morphology by the TRIM3 ubiquitin ligase in rat hippocampal neurons

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Postsynaptic positioning of endocytic zones and AMPA receptor cycling by physical coupling of dynamin-3 to Homer

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Linkage of the actin cytoskeleton to the postsynaptic density via direct interactions of Abp1 with the ProSAP/Shank family

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Conserved role of intragenic DNA methylation in regulating alternative promoters

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Behavioural phenotyping assays for mouse models of autism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

AMPA Receptor Trafficking at Excitatory Synapses

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Optimized survival of hippocampal neurons in B27-supplemented Neurobasal, a new serum-free medium combination

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Animals lacking endothelin-converting enzyme-2 are deficient in learning and memory

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Medical comorbidities in autism: challenges to diagnosis and treatment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Activity induced changes in the distribution of Shanks at hippocampal synapses

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Downregulation of NR3A-containing NMDARs is required for synapse maturation and memory consolidation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Ube3a is required for experience-dependent maturation of the neocortex.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Scaffolding proteins at the postsynaptic density: shank as the architectural framework

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Autism spectrum disorders: concurrent clinical disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Deletion polymorphism of Disc1 is common to all 129 mouse substrains: implications for gene-targeting studies of brain function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Novelty seeking and stereotypic activation of behavior in mice with disruption of the Dat1 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Aberrant responses in social interaction of dopamine transporter knockout mice

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131048

Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons.

30 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR212

Novel de novo SHANK3 mutation in autistic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR212

Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR212

Behavioral phenotypes of Disc1 missense mutations in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR212

Regression and word loss in autistic spectrum disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR212

Mouse grooming microstructure is a reliable anxiety marker bidirectionally sensitive to GABAergic drugs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR212

Attentional set shifting in autism spectrum disorder: Differentiating between the role of perseveration, learned irrelevance, and novelty processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR212

A role for zinc in postsynaptic density asSAMbly and plasticity?

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21558424

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

2-year-old boy who has been diagnosed with autism

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR212

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1093/HMG/DDR212

1 reference

1 reference

1 reference

PubMed publication ID

21558424

1 reference