(Q38580572)

4 September 2017

title

Shank synaptic scaffold proteins: keys to understanding the pathogenesis of autism and other synaptic disorders (English)

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4 September 2017

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Chiara Verpelli

5

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Carlo Sala

object named as

Carlo Sala

1

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author name string

Cinzia Vicidomini

2

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4 September 2017

Ilaria Bigi

3

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4 September 2017

Adele Mossa

4

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4 September 2017

language of work or name

English

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publication date

6 July 2015

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Journal of Neurochemistry

4 September 2017

published in

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4 September 2017

volume

135

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4 September 2017

issue

5

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4 September 2017

page(s)

849-858

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

4 September 2017

cites work

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DNA methylation regulates tissue-specific expression of Shank3.

21 January 2018

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

21 January 2018

1 reference

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

21 January 2018

1 reference

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

21 January 2018

1 reference

Differential expression and dendritic transcript localization of Shank family members: identification of a dendritic targeting element in the 3' untranslated region of Shank1 mRNA.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Autism spectrum disorder in infancy: developmental considerations in treatment targets

21 January 2018

1 reference

A blueprint for research on Shankopathies: a view from research on autism spectrum disorder

21 January 2018

1 reference

Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.

21 January 2018

1 reference

Epigenome analyses using BAC microarrays identify evolutionary conservation of tissue-specific methylation of SHANK3.

21 January 2018

1 reference

Identification of a novel cortactin SH3 domain-binding protein and its localization to growth cones of cultured neurons

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Synapse structure: glutamate receptors connected by the shanks

21 January 2018

1 reference

Alternative polyadenylation and differential expression of Shank mRNAs in the synaptic neuropil

21 January 2018

1 reference

Shank1 mRNA: dendritic transport by kinesin and translational control by the 5'untranslated region

21 January 2018

1 reference

Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations.

21 January 2018

1 reference

De novo mutations in schizophrenia implicate synaptic networks

21 January 2018

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Common mechanisms of excitatory and inhibitory imbalance in schizophrenia and autism spectrum disorders

21 January 2018

1 reference

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

21 January 2018

1 reference

A preformed complex of postsynaptic proteins is involved in excitatory synapse development

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

The emerging role of SHANK genes in neuropsychiatric disorders

21 January 2018

1 reference

Gastrointestinal issues in autism spectrum disorder

21 January 2018

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

21 January 2018

1 reference

Modeling autism by SHANK gene mutations in mice

21 January 2018

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A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

21 January 2018

1 reference

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

21 January 2018

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Shank3-mutant mice lacking exon 9 show altered excitation/inhibition balance, enhanced rearing, and spatial memory deficit

21 January 2018

1 reference

A promoter variant of SHANK1 affects auditory working memory in schizophrenia patients and in subjects clinically at risk for psychosis

21 January 2018

1 reference

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

21 January 2018

1 reference

Recent advances in autism research as reflected in DSM-5 criteria for autism spectrum disorder

21 January 2018

1 reference

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

21 January 2018

1 reference

A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells

21 January 2018

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Commonly studied comorbid psychopathologies among persons with autism spectrum disorder

21 January 2018

1 reference

Conserved role of intragenic DNA methylation in regulating alternative promoters

21 January 2018

1 reference

Contribution of SHANK3 mutations to autism spectrum disorder

21 January 2018

1 reference

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

21 January 2018

1 reference

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

21 January 2018

1 reference

21 January 2018

22q13 deletion syndrome

1 reference

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

21 January 2018

1 reference

A functional role of postsynaptic density-95-guanylate kinase-associated protein complex in regulating Shank assembly and stability to synapses

21 January 2018

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

21 January 2018

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Regulation of dendritic spine morphology and synaptic function by Shank and Homer

21 January 2018

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Key role of the postsynaptic density scaffold proteins Shank and Homer in the functional architecture of Ca2+ homeostasis at dendritic spines in hippocampal neurons.

21 January 2018

1 reference

SHANK1 Deletions in Males with Autism Spectrum Disorder

21 January 2018

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Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

21 January 2018

1 reference

Sociability and motor functions in Shank1 mutant mice

21 January 2018

1 reference

A non-canonical initiation site is required for efficient translation of the dendritically localized Shank1 mRNA.

21 January 2018

1 reference

Repetitive behaviors in the Shank1 knockout mouse model for autism spectrum disorder: developmental aspects and effects of social context.

21 January 2018

1 reference

Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors

21 January 2018

1 reference

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

21 January 2018

1 reference

Molecular and synaptic defects in intellectual disability syndromes

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

21 January 2018

1 reference

Ultrasonic vocalizations in Shank mouse models for autism spectrum disorders: detailed spectrographic analyses and developmental profiles.

21 January 2018

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Communication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behavior

21 January 2018

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Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

21 January 2018

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Role of the internal Shank-binding segment of glutamate receptor delta2 in synaptic localization and cerebellar functions

21 January 2018

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

21 January 2018

1 reference

Somatostatin receptor interacting protein defines a novel family of multidomain proteins present in human and rodent brain

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/JNC.13232

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4 September 2017

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