Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits (Q36064149)

11 August 2017

Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits (English)

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11 August 2017

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8

Craig M Powell

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11 August 2017

1

Haley E Speed

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11 August 2017

Mehreen Kouser

2

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11 August 2017

Zhong Xuan

3

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11 August 2017

Jeremy M Reimers

4

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11 August 2017

Christine F Ochoa

5

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11 August 2017

Natasha Gupta

6

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11 August 2017

Shunan Liu

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11 August 2017

language of work or name

English

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publication date

1 July 2015

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11 August 2017

Journal of Neuroscience

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11 August 2017

35

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11 August 2017

26

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11 August 2017

9648-9665

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describes a project that uses

11 August 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4571502/fullTextXML

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inferred from PubMed Central ID database lookup

cites work

Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission

1 reference

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Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders

2 October 2017

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Location- and sex-specific differences in weight and motor coordination in two commonly used mouse strains

2 October 2017

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Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

2 October 2017

1 reference

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Modeling autism by SHANK gene mutations in mice

2 October 2017

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What the DSM-5 portends for research, diagnosis, and treatment of autism spectrum disorders

2 October 2017

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Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice

2 October 2017

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SHANK3 as an autism spectrum disorder-associated gene

2 October 2017

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The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

2 October 2017

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Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice

2 October 2017

1 reference

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High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability

2 October 2017

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Metabotropic glutamate receptor-dependent long-term depression is impaired due to elevated ERK signaling in the ΔRG mouse model of tuberous sclerosis complex

2 October 2017

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Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)

2 October 2017

1 reference

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Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses

2 October 2017

1 reference

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Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

2 October 2017

1 reference

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SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.

2 October 2017

1 reference

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

2 October 2017

1 reference

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Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

2 October 2017

1 reference

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Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities

2 October 2017

1 reference

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Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior

2 October 2017

1 reference

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Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments

2 October 2017

1 reference

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Preliminary efficacy of a cognitive-behavioral treatment program for anxious youth with autism spectrum disorders

2 October 2017

1 reference

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Increased anxiety-like behavior in mice lacking the inhibitory synapse cell adhesion molecule neuroligin 2

2 October 2017

1 reference

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Deletion 22q13.3 syndrome

2 October 2017

1 reference

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Contribution of SHANK3 mutations to autism spectrum disorder

2 October 2017

1 reference

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A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice

2 October 2017

1 reference

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Regulation of NMDA receptors by phosphorylation

2 October 2017

1 reference

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Reversal of neurological defects in a mouse model of Rett syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

Synaptic plasticity and phosphorylation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

Automated apparatus for quantitation of social approach behaviors in mice.

2 October 2017

1 reference

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Sociability and preference for social novelty in five inbred strains: an approach to assess autistic-like behavior in mice

2 October 2017

1 reference

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The mGluR theory of fragile X mental retardation

2 October 2017

1 reference

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The presynaptic active zone protein RIM1alpha is critical for normal learning and memory

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

Anxiety in high-functioning children with autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

A method for the generation of conditional gene repair mutations in mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

The Shank family of scaffold proteins

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

Diagnostic features of autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

Loss of Tsc1 in vivo impairs hippocampal mGluR-LTD and increases excitatory synaptic function

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

Further evidence of complex motor dysfunction in drug naive children with autism using automatic motion analysis of gait

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

Developmental coordination disorder and other motor control problems in girls with autism spectrum disorder and/or attention-deficit/hyperactivity disorder

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

Novel de novo SHANK3 mutation in autistic patients

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

Homer interactions are necessary for metabotropic glutamate receptor-induced long-term depression and translational activation

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

C-terminal synaptic targeting elements for postsynaptic density proteins ProSAP1/Shank2 and ProSAP2/Shank3.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

The hippocampus as an associator of discontiguous events

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571502

10.1523/JNEUROSCI.3125-14.2015

23 September 2018

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

26134648

1 reference