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

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18 October 2017

23

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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

cites work

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

20 June 2018

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

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

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

20 June 2018

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SHANK1 Deletions in Males with Autism Spectrum Disorder

20 June 2018

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

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

20 June 2018

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

20 June 2018

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

20 June 2018

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

20 June 2018

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20 June 2018

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20 June 2018

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

20 June 2018

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

20 June 2018

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

20 June 2018

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

20 June 2018

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Multiple rare variants in the etiology of autism spectrum disorders

20 June 2018

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

20 June 2018

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

20 June 2018

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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

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

20 June 2018

1 reference

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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