(Q30653240)

18 October 2017

Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID. (English)

1 reference

18 October 2017

autism spectrum disorder

0 references

author

Joseph Buxbaum

7

1 reference

PubMed publication ID

25 June 2017

Yuji Kajiwara

3

0 references

Stacey Lurie

6

object named as

Stacey Lurie

1 reference

18 October 2017

Daniela M Cochoy

1

1 reference

18 October 2017

Alexander Kolevzon

2

1 reference

18 October 2017

Michael Schoen

4

1 reference

18 October 2017

Maria Pascual-Lucas

5

1 reference

18 October 2017

Tobias M Boeckers

8

1 reference

18 October 2017

Michael J Schmeisser

9

1 reference

18 October 2017

29 April 2015

1 reference

18 October 2017

1 reference

18 October 2017

6

1 reference

18 October 2017

23

1 reference

Creative Commons Attribution 4.0 International

18 October 2017

start time

29 April 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s13229-015-0020-5

0 references

cites work

Translational neurobiology in Shank mutant mice--model systems for neuropsychiatric disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Synaptic, transcriptional and chromatin genes disrupted in autism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Neurobiology of autism gene products: towards pathogenesis and drug targets.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Organizing principles of mammalian nonsense-mediated mRNA decay

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

The Nedd4-binding protein 3 (N4BP3) is crucial for axonal and dendritic branching in developing neurons

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

SHANK3 gene mutations associated with autism facilitate ligand binding to the Shank3 ankyrin repeat region

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

The genetic landscapes of autism spectrum disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

DSM-5 and autism spectrum disorders (ASDs): an opportunity for identifying ASD subtypes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Modeling autism by SHANK gene mutations in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Autism-associated mutations in ProSAP2/Shank3 impair synaptic transmission and neurexin-neuroligin-mediated transsynaptic signaling.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

SHANK1 Deletions in Males with Autism Spectrum Disorder

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Genetic architecture in autism spectrum disorder

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Scaffold proteins at the postsynaptic density

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Amyloid beta protein-induced zinc sequestration leads to synaptic loss via dysregulation of the ProSAP2/Shank3 scaffold

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Genetically encoded dendritic marker sheds light on neuronal connectivity in Drosophila.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Synaptic cross-talk between N-methyl-D-aspartate receptors and LAPSER1-beta-catenin at excitatory synapses

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

Multiple rare variants in the etiology of autism spectrum disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

An architectural framework that may lie at the core of the postsynaptic density

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4455919

The PSD protein ProSAP2/Shank3 displays synapto-nuclear shuttling which is deregulated in a schizophrenia-associated mutation

20 June 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13229-015-0020-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13229-015-0020-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13229-015-0020-5

The spatio-temporal expression of ProSAP/shank family members and their interaction partner LAPSER1 during Xenopus laevis development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13229-015-0020-5

Complex autism spectrum disorder in a patient with a 17q12 microduplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13229-015-0020-5

10.1186/S13229-015-0020-5

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

18 October 2017

0 references

1 reference

18 October 2017

PubMed publication ID

26045941

1 reference