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

Circuit-Selective Striatal Synaptic Dysfunction in the Sapap3 Knockout Mouse Model of Obsessive-Compulsive Disorder

(2013) Yehong Wan et al.   BIOLOGICAL PSYCHIATRY

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

Modeling Autism by SHANK Gene Mutations in Mice

(2013) Yong-hui Jiang et al.   NEURON

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

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

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

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

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

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

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism

(2011) D. Misceo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2011) Olga Peñagarikano et al.   CELL

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

(2011) Xiaoming Wang et al.   HUMAN MOLECULAR GENETICS

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

Sapap3 Deletion Causes mGluR5-Dependent Silencing of AMPAR Synapses

(2011) Y. Wan et al.   JOURNAL OF NEUROSCIENCE

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

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

Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development

(2011) Chikako Waga et al.   PSYCHIATRIC GENETICS

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

Analysis of a purported SHANK3 mutation in a boy with autism: Clinical impact of rare variant research in neurodevelopmental disabilities

(2010) Alexander Kolevzon et al.   BRAIN RESEARCH

RIM1  and Interacting Proteins Involved in Presynaptic Plasticity Mediate Prepulse Inhibition and Additional Behaviors Linked to Schizophrenia

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

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

(2010) J. Blundell et al.   JOURNAL OF 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

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

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

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

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

Unusual Repertoire of Vocalizations in the BTBR T+tf/J Mouse Model of Autism

(2008) Maria Luisa Scattoni et al.   PLoS One