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

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

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

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

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

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

Actin-Dependent Alterations of Dendritic Spine Morphology in Shankopathies

(2016) Tasnuva Sarowar et al.   NEURAL PLASTICITY

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

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

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

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

(2015) Daniela M Cochoy et al.   Molecular Autism

Dynamic Control of Excitatory Synapse Development by a Rac1 GEF/GAP Regulatory Complex

(2014) Kyongmi Um et al.   DEVELOPMENTAL CELL

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

The mouse that roared: neural mechanisms of social hierarchy

(2014) Fei Wang et al.   TRENDS IN NEUROSCIENCES

Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism

(2014) Roser Corominas et al.   Nature Communications

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

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

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

(2013) Li Zhu et al.   HUMAN MOLECULAR GENETICS

Essential Role for Synaptopodin in Dendritic Spine Plasticity of the Developing Hippocampus

(2013) X.-l. Zhang et al.   JOURNAL OF NEUROSCIENCE

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

Autism-Associated Mutations in ProSAP2/Shank3 Impair Synaptic Transmission and Neurexin-Neuroligin-Mediated Transsynaptic Signaling

(2012) M. H. Arons et al.   JOURNAL OF NEUROSCIENCE

Comparative Study of Human and Mouse Postsynaptic Proteomes Finds High Compositional Conservation and Abundance Differences for Key Synaptic Proteins

(2012) Àlex Bayés et al.   PLoS One

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

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

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

A Kinase Anchor Protein 150 (AKAP150)-associated Protein Kinase A Limits Dendritic Spine Density

(2011) Yuan Lu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Importance of Shank3 Protein in Regulating Metabotropic Glutamate Receptor 5 (mGluR5) Expression and Signaling at Synapses

(2011) Chiara Verpelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2011) C M Durand et al.   MOLECULAR PSYCHIATRY

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

Bidirectional Control of Social Hierarchy by Synaptic Efficacy in Medial Prefrontal Cortex

(2011) F. Wang et al.   SCIENCE

Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders

(2011) Y. Sakai et al.   Science Translational Medicine

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

Multiple autism-like behaviors in a novel transgenic mouse model

(2010) Shannon M. Hamilton et al.   BEHAVIOURAL BRAIN RESEARCH

Confirmed rare copy number variants implicate novel genes in schizophrenia

(2010) Gloria W.C. Tam et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Skyline: an open source document editor for creating and analyzing targeted proteomics experiments

(2010) Brendan MacLean et al.   BIOINFORMATICS

Structure and control of the actin regulatory WAVE complex

(2010) Zhucheng Chen et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Characterization of the proteome, diseases and evolution of the human postsynaptic density

(2010) Àlex Bayés et al.   NATURE NEUROSCIENCE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

(2009) Daniela Tropea et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

iRefIndex: A consolidated protein interaction database with provenance

(2008) Sabry Razick et al.   BMC BIOINFORMATICS

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

(2008) Janghoo Lim et al.   NATURE

Deletion of Mecp2 in Sim1-Expressing Neurons Reveals a Critical Role for MeCP2 in Feeding Behavior, Aggression, and the Response to Stress

(2008) Sharyl L. Fyffe et al.   NEURON