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Open AccessJournal ArticleDOI

Mice with Shank3 Mutations Associated with ASD and Schizophrenia Display Both Shared and Distinct Defects

Yang Zhou, +30 more
- 06 Jan 2016 - 
- Vol. 89, Iss: 1, pp 147-162
TLDR
In this paper, the authors characterized two lines of mutant mice with Shank3 mutations linked to ASD and schizophrenia and found both shared and distinct synaptic and behavioral phenotypes, which may inform exploration of these relationships in human patients.
About: 
This article is published in Neuron.The article was published on 2016-01-06 and is currently open access. It has received 244 citations till now. The article focuses on the topics: Allele.

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Citations
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SHANK proteins: roles at the synapse and in autism spectrum disorder

Patricia Monteiro, +1 more
- 01 Mar 2017 - 
TL;DR: An evaluation of human genetic data, as well as of in vitro and in vivo animal model data, may allow us to understand how disruption of SHANK scaffolding proteins affects the structure and function of neural circuits and alters behaviour.
Journal ArticleDOI

Dendritic Structural Plasticity and Neuropsychiatric Disease

Marc P. Forrest, +2 more
- 16 Mar 2018 - 
TL;DR: The importance of recent genetic findings on the different mechanisms of structural plasticity are discussed and it is proposed that these converge on shared pathways that can be targeted with novel therapeutics.
Journal ArticleDOI

The Role of the Immune System in Autism Spectrum Disorder.

Amory Meltzer, +1 more
- 01 Jan 2017 - 
TL;DR: A deeper understanding of the interaction between both maternal and child immune systems, and the role they have in diagnosis and treatment is required.
Journal ArticleDOI

Autism spectrum disorder: neuropathology and animal models

Merina Varghese, +11 more
- 05 Jun 2017 - 
TL;DR: Overall, postmortem neuropathologic studies with larger sample sizes representative of the various ASD risk genes and diverse clinical phenotypes are warranted to clarify putative etiopathogenic pathways further and to promote the emergence of clinically relevant diagnostic and therapeutic tools.
Journal ArticleDOI

Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism

Xiaoming Wang, +25 more
- 10 May 2016 - 
TL;DR: Findings show that deficiency of Shank3 can impair mGluR5-Homer scaffolding, resulting in cortico-striatal circuit abnormalities that underlie deficits in learning and ASD-like behaviours, and suggest causal links between genetic, molecular, and circuit mechanisms underlying the pathophysiology of ASDs.
References
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Journal ArticleDOI

Biological insights from 108 schizophrenia-associated genetic loci

Stephan Ripke, +354 more
- 24 Jul 2014 - 
TL;DR: Associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses.
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Meeting of minds: the medial frontal cortex and social cognition.

David M. Amodio, +1 more
- 01 Apr 2006 - 
TL;DR: This work reviews the emerging literature that relates social cognition to the medial frontal cortex and proposes a theoretical model of medial frontal cortical function relevant to different aspects of social cognitive processing.
Journal ArticleDOI

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

Jordan W. Smoller, +33 more
- 20 Apr 2013 - 
TL;DR: The findings show that specific SNPs are associated with a range of psychiatric disorders of childhood onset or adult onset, and variation in calcium-channel activity genes seems to have pleiotropic effects on psychopathology.
Journal ArticleDOI

Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis, +99 more
- 13 Nov 2014 - 
TL;DR: Using exome sequencing, it is shown that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate of < 0.05, plus a set of 107 genes strongly enriched for those likely to affect risk (FDR < 0.30).
Journal ArticleDOI

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

S. Hong Lee, +405 more
- 01 Sep 2013 - 
TL;DR: Empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders.
Related Papers (5)

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

João Peça, +11 more
- 28 Apr 2011 - 

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

Christelle M. Durand, +22 more
- 01 Jan 2007 - 

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

Xiaoming Wang, +18 more
- 01 Aug 2011 - 

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

Ozlem Bozdagi, +18 more
- 17 Dec 2010 - 

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

Claire S. Leblond, +59 more
- 04 Sep 2014 -