Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications

Developmental impaired Akt signaling in the Shank1 and Shank3 double knock-out mice

(2021) Adele Mossa et al.   MOLECULAR PSYCHIATRY

Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model

(2021) Emmanuel Matas et al.   Molecular Autism

Increased ribosomal protein levels and protein synthesis in the striatal synaptosome of Shank3-overexpressing transgenic mice

(2021) Chunmei Jin et al.   Molecular Brain

Synergistic inhibition of histone modifiers produces therapeutic effects in adult Shank3-deficient mice

(2021) Freddy Zhang et al.   Translational Psychiatry

New Open-Source Tools: Using Bonsai for Behavioral Tracking and Closed-Loop Experiments

(2021) Gonçalo Lopes et al.   Frontiers in Behavioral Neuroscience

Action detection using a neural network elucidates the genetics of mouse grooming behavior

(2021) Brian Q Geuther et al.   eLife

Highly accurate protein structure prediction with AlphaFold

(2021) John Jumper et al.   NATURE

Highly accurate protein structure prediction for the human proteome

(2021) Kathryn Tunyasuvunakool et al.   NATURE

Reduced sociability and social agency encoding in adult Shank3-mutant mice are restored through gene re-expression in real time

(2021) Daniel K. Lee et al.   NATURE NEUROSCIENCE

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

(2020) F. Kyle Satterstrom et al.   CELL

Neuronal L-Type Calcium Channel Signaling to the Nucleus Requires a Novel CaMKIIα-Shank3 Interaction

(2020) Tyler L. Perfitt et al.   JOURNAL OF NEUROSCIENCE

Improved protein structure prediction using potentials from deep learning

(2020) Andrew W. Senior et al.   NATURE

Dysfunction of cortical GABAergic neurons leads to sensory hyper-reactivity in a Shank3 mouse model of ASD

(2020) Qian Chen et al.   NATURE NEUROSCIENCE

A longitudinal study of pupillary light reflex in 6- to 24-month children

(2020) Clare Kercher et al.   Scientific Reports

Autism spectrum disorder

(2020) Catherine Lord et al.   Nature Reviews Disease Primers

Mouse Model Systems of Autism Spectrum Disorder: Replicability and Informatics Signature

(2020) Patricia Kabitzke et al.   GENES BRAIN AND BEHAVIOR

Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β‐catenin signaling

(2020) Fatemeh Hassani Nia et al.   JOURNAL OF NEUROCHEMISTRY

Autism-Associated Shank3 Is Essential for Homeostatic Compensation in Rodent V1

(2020) Vedakumar Tatavarty et al.   NEURON

Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles

(2020) Anne-Kathrin Lutz et al.   Science Translational Medicine

Influence of maternal zinc supplementation on the development of autism-associated behavioural and synaptic deficits in offspring Shank3-knockout mice

(2020) Yukti Vyas et al.   Molecular Brain

Early Restoration of Shank3 Expression in Shank3 Knock-Out Mice Prevents Core ASD-Like Behavioral Phenotypes

(2020) Thomas C. Jaramillo et al.   eNeuro

The evolving metabolic landscape of chromatin biology and epigenetics

(2020) Ziwei Dai et al.   NATURE REVIEWS GENETICS

Increased rates of cerebral protein synthesis in Shank3 knockout mice: Implications for a link between synaptic protein deficit and dysregulated protein synthesis in autism spectrum disorder/intellectual disability

(2020) Anita Torossian et al.   NEUROBIOLOGY OF DISEASE

Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats

(2020) Sarah Jacot-Descombes et al.   Molecular Autism

Sleep Duration in Mouse Models of Neurodevelopmental Disorders

(2020) Rachel Michelle Saré et al.   Brain Sciences

Hypothesis-driven investigations of diverse pharmacological targets in two mouse models of autism

(2019) Maya A. Rhine et al.   Autism Research

An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function

(2019) Li Wang et al.   MOLECULAR PSYCHIATRY

Amelioration of autism-like social deficits by targeting histone methyltransferases EHMT1/2 in Shank3-deficient mice

(2019) Zi-Jun Wang et al.   MOLECULAR PSYCHIATRY

Shank3 Transgenic and Prenatal Zinc-Deficient Autism Mouse Models Show Convergent and Individual Alterations of Brain Structures in MRI

(2019) Michael Schoen et al.   Frontiers in Neural Circuits

Altered Behaviors and Impaired Synaptic Function in a Novel Rat Model With a Complete Shank3 Deletion

(2019) Tian-Jia Song et al.   Frontiers in Cellular Neuroscience

Home-cage hypoactivity in mouse genetic models of autism spectrum disorder

(2019) Christopher C. Angelakos et al.   NEUROBIOLOGY OF LEARNING AND MEMORY

A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability

(2019) Li Wang et al.   MOLECULAR PSYCHIATRY

Incontinence in Phelan-McDermid Syndrome

(2019) Claire Witmer et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Different attentional dysfunctions in eEF2K −/− , IL1RAPL1 −/− and SHANK3Δ11 −/− mice

(2019) Luisa Ponzoni et al.   GENES BRAIN AND BEHAVIOR

Altered Intestinal Morphology and Microbiota Composition in the Autism Spectrum Disorders Associated SHANK3 Mouse Model

(2019) Ann Katrin Sauer et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Deletion of autism risk gene Shank3 disrupts prefrontal connectivity

(2019) Marco Pagani et al.   JOURNAL OF NEUROSCIENCE

Oxytocin-dependent reopening of a social reward learning critical period with MDMA

(2019) Romain Nardou et al.   NATURE

Single-cell genomics identifies cell type–specific molecular changes in autism

(2019) Dmitry Velmeshev et al.   SCIENCE

Shank3 modulates sleep and expression of circadian transcription factors

(2019) Ashley M Ingiosi et al.   eLife

Real-time analysis of the behaviour of groups of mice via a depth-sensing camera and machine learning

(2019) Fabrice de Chaumont et al.   Nature Biomedical Engineering

Shank3 regulates striatal synaptic abundance of Cyld, a deubiquitinase specific for Lys63‐linked polyubiquitin chains

(2019) Chunmei Jin et al.   JOURNAL OF NEUROCHEMISTRY

Atypical behaviour and connectivity in SHANK3-mutant macaques

(2019) Yang Zhou et al.   NATURE

Anterior cingulate cortex dysfunction underlies social deficits in Shank3 mutant mice

(2019) Baolin Guo et al.   NATURE NEUROSCIENCE

Shank3 Mice Carrying the Human Q321R Mutation Display Enhanced Self-Grooming, Abnormal Electroencephalogram Patterns, and Suppressed Neuronal Excitability and Seizure Susceptibility

(2019) Ye-Eun Yoo et al.   Frontiers in Molecular Neuroscience

Dlx5 and Dlx6 expression in GABAergic neurons controls behavior, metabolism, healthy aging and lifespan

(2019) Camille de Lombares et al.   Aging-US

Targeting Peripheral Somatosensory Neurons to Improve Tactile-Related Phenotypes in ASD Models

(2019) Lauren L. Orefice et al.   CELL

Unexpected Compensatory Increase in Shank3 Transcripts in Shank3 Knock-Out Mice Having Partial Deletions of Exons

(2019) Chunmei Jin et al.   Frontiers in Molecular Neuroscience

Shank3 Exons 14–16 Deletion in Glutamatergic Neurons Leads to Social and Repetitive Behavioral Deficits Associated With Increased Cortical Layer 2/3 Neuronal Excitability

(2019) Taesun Yoo et al.   Frontiers in Cellular Neuroscience

Abnormal Striatal Development Underlies the Early Onset of Behavioral Deficits in Shank3B Mice

(2019) Rui Tiago Peixoto et al.   Cell Reports

Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder

(2018) Elizabeth L. Berg et al.   Autism Research

Dysbiosis of microbiome and probiotic treatment in a genetic model of autism spectrum disorders

(2018) Laure Tabouy et al.   BRAIN BEHAVIOR AND IMMUNITY

SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature

(2018) Farah Kanani et al.   CLINICAL DYSMORPHOLOGY

Shank3-deficient thalamocortical neurons show HCN channelopathy and alterations in intrinsic electrical properties

(2018) Mengye Zhu et al.   JOURNAL OF PHYSIOLOGY-LONDON

Shank3 mutation in a mouse model of autism leads to changes in the S-nitroso-proteome and affects key proteins involved in vesicle release and synaptic function

(2018) Haitham Amal et al.   MOLECULAR PSYCHIATRY

Social deficits in Shank3-deficient mouse models of autism are rescued by histone deacetylase (HDAC) inhibition

(2018) Luye Qin et al.   NATURE NEUROSCIENCE

Histone deacetylase inhibitor MS-275 restores social and synaptic function in a Shank3-deficient mouse model of autism

(2018) Kaijie Ma et al.   NEUROPSYCHOPHARMACOLOGY

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

(2018) Eugenio Mercuri et al.   NEW ENGLAND JOURNAL OF MEDICINE

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

(2018) Silvia De Rubeis et al.   Molecular Autism

Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors

(2018) Alexandra L. Bey et al.   Translational Psychiatry

Heterogeneity of Cell Surface Glutamate and GABA Receptor Expression in Shank and CNTN4 Autism Mouse Models

(2018) Christopher Heise et al.   Frontiers in Molecular Neuroscience

A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C

(2018) Jariya Upadia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Integrative Brain Transcriptome Analysis Reveals Region-Specific and Broad Molecular Changes in Shank3-Overexpressing Mice

(2018) Chunmei Jin et al.   Frontiers in Molecular Neuroscience

Insular Resting State Functional Connectivity is Associated with Gut Microbiota Diversity

(2018) Kaylah Curtis et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms

(2018) Zhuchi Tu et al.   HUMAN MOLECULAR GENETICS

Mechanisms Underlying Microbial-Mediated Changes in Social Behavior in Mouse Models of Autism Spectrum Disorder

(2018) Martina Sgritta et al.   NEURON

CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency

(2018) Navneet Matharu et al.   SCIENCE

Dietary Zinc Supplementation Prevents Autism Related Behaviors and Striatal Synaptic Dysfunction in Shank3 Exon 13–16 Mutant Mice

(2018) Chantelle Fourie et al.   Frontiers in Cellular Neuroscience

GABA Neuronal Deletion of Shank3 Exons 14–16 in Mice Suppresses Striatal Excitatory Synaptic Input and Induces Social and Locomotor Abnormalities

(2018) Taesun Yoo et al.   Frontiers in Cellular Neuroscience

Transcriptome analysis of Shank3-overexpressing mice reveals unique molecular changes in the hypothalamus

(2018) Chunmei Jin et al.   Molecular Brain

Shank3B mutant mice display pitch discrimination enhancements and learning deficits

(2018) Amanda R. Rendall et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Comprehensive analysis of two Shank3 and the Cacna1c mouse models of autism spectrum disorder

(2017) P.A. Kabitzke et al.   GENES BRAIN AND BEHAVIOR

Striatopallidal dysfunction underlies repetitive behavior in Shank3-deficient model of autism

(2017) Wenting Wang et al.   JOURNAL OF CLINICAL INVESTIGATION

What Is the Male-to-Female Ratio in Autism Spectrum Disorder? A Systematic Review and Meta-Analysis

(2017) Rachel Loomes et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

RNA targeting with CRISPR–Cas13

(2017) Omar O. Abudayyeh et al.   NATURE

Classification of common human diseases derived from shared genetic and environmental determinants

(2017) Kanix Wang et al.   NATURE GENETICS

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

(2017) Patricia Monteiro et al.   NATURE REVIEWS NEUROSCIENCE

Enhancing inhibitory synaptic function reverses spatial memory deficits in Shank2 mutant mice

(2017) Chae-Seok Lim et al.   NEUROPHARMACOLOGY

Touchscreen learning deficits and normal social approach behavior in the Shank3B model of Phelan–McDermid Syndrome and autism

(2017) Nycole A. Copping et al.   NEUROSCIENCE

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

VTA DA neuron excitatory synapses in Shank3 Δex4-9 mouse line

(2017) Sebastiano Bariselli et al.   SYNAPSE

Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat

(2017) Hala Harony-Nicolas et al.   eLife

Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism

(2017) Sameer C. Dhamne et al.   Molecular Autism

Environmental risk factors for autism: an evidence-based review of systematic reviews and meta-analyses

(2017) Amirhossein Modabbernia et al.   Molecular Autism

Striatal Transcriptome and Interactome Analysis of Shank3-overexpressing Mice Reveals the Connectivity between Shank3 and mTORC1 Signaling

(2017) Yeunkum Lee et al.   Frontiers in Molecular Neuroscience

Integrative Analysis of Brain Region-specific Shank3 Interactomes for Understanding the Heterogeneity of Neuronal Pathophysiology Related to SHANK3 Mutations

(2017) Yeunkum Lee et al.   Frontiers in Molecular Neuroscience

Proteomic Analysis of Post-synaptic Density Fractions from Shank3 Mutant Mice Reveals Brain Region Specific Changes Relevant to Autism Spectrum Disorder

(2017) Dominik Reim et al.   Frontiers in Molecular Neuroscience

Advanced parental age and autism risk in children: a systematic review and meta-analysis

(2016) S. Wu et al.   ACTA PSYCHIATRICA SCANDINAVICA

Novel Shank3 mutant exhibits behaviors with face validity for autism and altered striatal and hippocampal function

(2016) Thomas C. Jaramillo et al.   Autism Research

Epidemiology of autism in adults across age groups and ability levels

(2016) Traolach S. Brugha et al.   BRITISH JOURNAL OF PSYCHIATRY

Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs

(2016) Lauren L. Orefice et al.   CELL

The spectrum of epilepsy and electroencephalographic abnormalities due toSHANK3loss-of-function mutations

(2016) J. Lloyd Holder et al.   EPILEPSIA

Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial

(2016) Renée J Zwanenburg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Shank3 is localized in axons and presynaptic specializations of developing hippocampal neurons and involved in the modulation of NMDA receptor levels at axon terminals

(2016) Sonja Halbedl et al.   JOURNAL OF NEUROCHEMISTRY

Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome

(2016) A. Ting Wang et al.   Journal of Neurodevelopmental Disorders

Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice

(2016) C Vicidomini et al.   MOLECULAR PSYCHIATRY

Adult restoration of Shank3 expression rescues selective autistic-like phenotypes

(2016) Yuan Mei et al.   NATURE

Advancing the understanding of autism disease mechanisms through genetics

(2016) Luis de la Torre-Ubieta et al.   NATURE MEDICINE

Early hyperactivity and precocious maturation of corticostriatal circuits in Shank3B−/− mice

(2016) Rui T Peixoto et al.   NATURE NEUROSCIENCE

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder

(2016) Arjun Krishnan et al.   NATURE NEUROSCIENCE

A viral strategy for targeting and manipulating interneurons across vertebrate species

(2016) Jordane Dimidschstein et al.   NATURE NEUROSCIENCE

SHANK3 Deficiency Impairs Heat Hyperalgesia and TRPV1 Signaling in Primary Sensory Neurons

(2016) Qingjian Han et al.   NEURON

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

(2016) Yang Zhou et al.   NEURON

CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency

(2016) Michael Bidinosti et al.   SCIENCE

Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons

(2016) F. Yi et al.   SCIENCE

Dysfunctional cerebellar Purkinje cells contribute to autism-like behaviour in Shank2-deficient mice

(2016) Saša Peter et al.   Nature Communications

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

(2016) Xiaoming Wang et al.   Nature Communications

Reduction in parvalbumin expression not loss of the parvalbumin-expressing GABA interneuron subpopulation in genetic parvalbumin and shank mouse models of autism

(2016) Federica Filice et al.   Molecular Brain

Striatal Circuits as a Common Node for Autism Pathophysiology

(2016) Marc V. Fuccillo   Frontiers in Neuroscience

Altered Striatal Synaptic Function and Abnormal Behaviour inShank3Exon4-9 Deletion Mouse Model of Autism

(2015) Thomas C. Jaramillo et al.   Autism Research

Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports

(2015) Sylvie Serret et al.   BMC Psychiatry

Shank1 regulates excitatory synaptic transmission in mouse hippocampal parvalbumin-expressing inhibitory interneurons

(2015) Wenjie Mao et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

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

(2015) H. E. Speed et al.   JOURNAL OF NEUROSCIENCE

Micro-electrode array recordings reveal reductions in both excitation and inhibition in cultured cortical neuron networks lacking Shank3

(2015) C Lu et al.   MOLECULAR PSYCHIATRY

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

(2015) Stephan J. Sanders et al.   NEURON

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

(2015) Jiseok Lee et al.   Frontiers in Cellular Neuroscience

Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators

(2015) Lara J. Duffney et al.   Cell Reports

Cerebellar associative sensory learning defects in five mouse autism models

(2015) Alexander D Kloth et al.   eLife

Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice

(2015) Neha Uppal et al.   Molecular Autism

The Split-Apply-Combine Strategy for Data Analysis

(2015) Hadley Wickham   Journal of Statistical Software

Differential Distribution of Shank and GKAP at the Postsynaptic Density

(2015) Jung-Hwa Tao-Cheng et al.   PLoS One

Autism-Related Neuroligin-3 Mutation Alters Social Behavior and Spatial Learning

(2014) Thomas C. Jaramillo et al.   Autism Research

Absence of strong strain effects in behavioral analyses of Shank3-deficient mice

(2014) E. Drapeau et al.   Disease Models & Mechanisms

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

(2014) Stefanie Grabrucker et al.   EXPERIMENTAL NEUROLOGY

Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity

(2014) J Ellegood et al.   MOLECULAR PSYCHIATRY

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Most genetic risk for autism resides with common variation

(2014) Trent Gaugler et al.   NATURE GENETICS

Sensory Integration in Mouse Insular Cortex Reflects GABA Circuit Maturation

(2014) Nadine Gogolla et al.   NEURON

Gastrointestinal Symptoms in Autism Spectrum Disorder: A Meta-analysis

(2014) B. O. McElhanon et al.   PEDIATRICS

The epidemiology and global burden of autism spectrum disorders

(2014) A. J. Baxter et al.   PSYCHOLOGICAL MEDICINE

Neurexin Dysfunction in Adult Neurons Results in Autistic-like Behavior in Mice

(2014) Luis G. Rabaneda et al.   Cell Reports

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

(2014) Claire S. Leblond et al.   PLoS Genetics

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

(2014) Alexander Kolevzon et al.   Molecular Autism

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

(2014) Xiaoming Wang et al.   Molecular Autism

Deletion of α-neurexin II results in autism-related behaviors in mice

(2014) J Dachtler et al.   Translational Psychiatry

A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region

(2013) Kristi Simenson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Genetic Landscapes of Autism Spectrum Disorders

(2013) Guillaume Huguet et al.   Annual Review of Genomics and Human Genetics

Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

(2013) A. Jeremy Willsey et al.   CELL

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

(2013) Neelroop N. Parikshak et al.   CELL

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

(2013) Li Zhu et al.   HUMAN MOLECULAR GENETICS

SHANK3Gene Mutations Associated with Autism Facilitate Ligand Binding to the Shank3 Ankyrin Repeat Region

(2013) Marie Germaine Mameza et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of Predominant Shank3 Isoforms Results in Hippocampus-Dependent Impairments in Behavior and Synaptic Transmission

(2013) M. Kouser et al.   JOURNAL OF NEUROSCIENCE

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

(2013) Kihoon Han et al.   NATURE

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

(2013) Aleksandr Shcheglovitov et al.   NATURE

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

(2013) S Hong Lee et al.   NATURE GENETICS

Altered Social Behaviours in Neurexin 1α Knockout Mice Resemble Core Symptoms in Neurodevelopmental Disorders

(2013) Hannah Mary Grayton et al.   PLoS One

Nlgn4 knockout induces network hypo-excitability in juvenile mouse somatosensory cortex in vitro

(2013) V. Delattre et al.   Scientific Reports

Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay

(2013) Ozlem Bozdagi et al.   Molecular Autism

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

(2013) Latha Soorya et al.   Molecular Autism

Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2

(2012) Markus Wöhr et al.   BEHAVIOURAL BRAIN RESEARCH

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

(2012) Luigi Boccuto et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice

(2012) M. Yang et al.   JOURNAL OF NEUROSCIENCE

Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism

(2012) E Ben-David et al.   MOLECULAR PSYCHIATRY

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

(2012) Michael J. Schmeisser et al.   NATURE

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

(2012) Hyejung Won et al.   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

GKAP orchestrates activity-dependent postsynaptic protein remodeling and homeostatic scaling

(2012) Seung Min Shin et al.   NATURE NEUROSCIENCE

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits

(2011) Olga Peñagarikano et al.   CELL

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

(2011) Andreas M Grabrucker et al.   EMBO JOURNAL

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

(2011) Xiaoming Wang et al.   HUMAN MOLECULAR GENETICS

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

Gut feelings: the emerging biology of gut–brain communication

(2011) Emeran A. Mayer   NATURE REVIEWS NEUROSCIENCE

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy et al.   NEURON

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman et al.   NEURON

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Communication Impairments in Mice Lacking Shank1: Reduced Levels of Ultrasonic Vocalizations and Scent Marking Behavior

(2011) Markus Wöhr et al.   PLoS One

Mouse model of Timothy syndrome recapitulates triad of autistic traits

(2011) P. L. Bader et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Postsynaptic Organization of Synapses

(2011) M. Sheng et al.   Cold Spring Harbor Perspectives in Biology

Infantile zinc deficiency: Association with autism spectrum disorders

(2011) Hiroshi Yasuda et al.   Scientific Reports

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

(2011) Maria Clara Bonaglia et al.   PLoS Genetics

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

(2011) Ozlem Bozdagi et al.   Molecular Autism

22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

(2010) S.U. Dhar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sociability and motor functions in Shank1 mutant mice

(2010) Jill L. Silverman et al.   BRAIN RESEARCH

Neuroligin-1 Deletion Results in Impaired Spatial Memory and Increased Repetitive Behavior

(2010) J. Blundell et al.   JOURNAL OF NEUROSCIENCE

Dlx5 and Dlx6 Regulate the Development of Parvalbumin-Expressing Cortical Interneurons

(2010) Y. Wang et al.   JOURNAL OF NEUROSCIENCE

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

(2010) Dalila Pinto et al.   NATURE

Conserved role of intragenic DNA methylation in regulating alternative promoters

(2010) Alika K. Maunakea et al.   NATURE

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

(2010) Simone Berkel et al.   NATURE GENETICS

Proline-rich synapse-associated protein-1 and 2 (ProSAP1/Shank2 and ProSAP2/Shank3)—scaffolding proteins are also present in postsynaptic specializations of the peripheral nervous system

(2010) M. Raab et al.   NEUROSCIENCE

Activity induced changes in the distribution of Shanks at hippocampal synapses

(2010) J.H. Tao-Cheng et al.   NEUROSCIENCE

De novo mutations in the gene encoding the synaptic scaffolding proteinSHANK3in patients ascertained for schizophrenia

(2010) Julie Gauthier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Advances in Autism

(2009) Daniel H. Geschwind   Annual Review of Medicine

Characteristics and Concordance of Autism Spectrum Disorders Among 277 Twin Pairs

(2009) Rebecca E. Rosenberg et al.   ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE

Dose-dependent effect of risperidone treatment in a case of 22q13.3 deletion syndrome

(2009) Augusto Pasini et al.   BRAIN & DEVELOPMENT

The Postsynaptic Density Proteins Homer and Shank Form a Polymeric Network Structure

(2009) Mariko Kato Hayashi et al.   CELL

Synapse elimination in the central nervous system

(2009) Masanobu Kano et al.   CURRENT OPINION IN NEUROBIOLOGY

Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit

(2009) K. Radyushkin et al.   GENES BRAIN AND BEHAVIOR

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

(2009) M. R. Etherton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel de novo SHANK3 mutation in autistic patients

(2008) Julie Gauthier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice

(2008) Kathryn K. Chadman et al.   Autism Research

Characterization of a distinct subpopulation of striatal projection neurons expressing the Dlx genes in the basal ganglia through the activity of the I56ii enhancer

(2008) Noël Ghanem et al.   DEVELOPMENTAL BIOLOGY

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

(2008) Heather L Wilson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2008) J. Blundell et al.   GENES BRAIN AND BEHAVIOR

Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial

(2008) H Schmidt et al.   JOURNAL OF MEDICAL GENETICS

Smaller Dendritic Spines, Weaker Synaptic Transmission, but Enhanced Spatial Learning in Mice Lacking Shank1

(2008) A. Y. Hung et al.   JOURNAL OF NEUROSCIENCE

Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism

(2008) S. Jamain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA