Uncovering the Functional Link Between SHANK3 Deletions and Deficiency in Neurodevelopment Using iPSC-Derived Human Neurons

Structural basis for PDZ domain interactions in the post-synaptic density scaffolding protein Shank3

(2018) Srinivas Kumar Ponna et al.   JOURNAL OF NEUROCHEMISTRY

USP8 Deubiquitinates SHANK3 to Control Synapse Density and SHANK3 Activity-dependent Protein Levels

(2018) Meghan Kerrisk Campbell et al.   JOURNAL OF NEUROSCIENCE

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

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

Single-molecule fluorescence in-situ hybridization reveals that human SHANK3 mRNA expression varies during development and in autism-associated SHANK3 heterozygosity

(2018) Samuel E. Taylor et al.   Stem Cell Research & Therapy

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

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

Integrated generation of induced pluripotent stem cells in a low-cost device

(2018) Haishuang Lin et al.   BIOMATERIALS

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

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

Stem cell-derived neurons from autistic individuals with SHANK3 mutation show morphogenetic abnormalities during early development

(2017) A Kathuria et al.   MOLECULAR PSYCHIATRY

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

(2017) Patricia Monteiro et al.   NATURE REVIEWS NEUROSCIENCE

Clinical and molecular characterization of three genomic rearrangements at chromosome 22q13.3 associated with autism spectrum disorder

(2017) Chia-Hsiang Chen et al.   PSYCHIATRIC GENETICS

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

(2017) Sebastiano Bariselli et al.   SYNAPSE

Correction: Functional significance of rare neuroligin 1 variants found in autism

(2017) Moe Nakanishi et al.   PLoS Genetics

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

(2017) Hala Harony-Nicolas et al.   eLife

Characteristic analyses of a neural differentiation model from iPSC-derived neuron according to morphology, physiology, and global gene expression pattern

(2017) Sai Kang et al.   Scientific Reports

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

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

Genome-wide changes in lncRNA, splicing and regional gene expression patterns in autism

(2016) Neelroop N. Parikshak et al.   NATURE

SHANK3 controls maturation of social reward circuits in the VTA

(2016) Sebastiano Bariselli et al.   NATURE NEUROSCIENCE

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

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

(2016) Xiaoming Wang et al.   Nature Communications

Resequencing and Association Analysis of Six PSD-95-Related Genes as Possible Susceptibility Genes for Schizophrenia and Autism Spectrum Disorders

(2016) Jingrui Xing et al.   Scientific Reports

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

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

(2015) Sergio I. Nemirovsky et al.   PLoS One

Collapsin Response Mediator Protein 4 Regulates Growth Cone Dynamics through the Actin and Microtubule Cytoskeleton

(2014) Mohamad R. Khazaei et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The functional genetic link of NLGN4X knockdown and neurodevelopment in neural stem cells

(2013) Lingling Shi et al.   HUMAN MOLECULAR GENETICS

WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013

(2013) Jing Wang et al.   NUCLEIC ACIDS RESEARCH

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

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

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

Probing sporadic and familial Alzheimer’s disease using induced pluripotent stem cells

(2012) Mason A. Israel et al.   NATURE

Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks

(2012) Yichen Shi et al.   Nature Protocols

Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients

(2011) Miguel Mitne-Neto et al.   HUMAN MOLECULAR GENETICS

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

(2011) Xiaoming Wang et al.   HUMAN MOLECULAR GENETICS

Generation of Induced Pluripotent Stem Cells from Urine

(2011) T. Zhou et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Modeling the functional genomics of autism using human neurons

(2011) G Konopka et al.   MOLECULAR PSYCHIATRY

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

The conundrums of understanding genetic risks for autism spectrum disorders

(2011) Matthew W State et al.   NATURE NEUROSCIENCE

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

(2011) Andreas M. Grabrucker et al.   TRENDS IN CELL BIOLOGY

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

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

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

(2009) Mariko Kato Hayashi et al.   CELL

Genetics of autistic disorders: review and clinical implications

(2009) Christine M. Freitag et al.   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

(2009) Nuala H Sykes et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling

(2009) Stuart M Chambers et al.   NATURE BIOTECHNOLOGY

Novel de novo SHANK3 mutation in autistic patients

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