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

Adult restoration of Shank3 expression rescues selective autistic-like phenotypes

(2016) Yuan Mei et al.   NATURE

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

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

Phelan McDermid Syndrome

(2015) Hala Harony-Nicolas et al.   JOURNAL OF CHILD NEUROLOGY

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

Synaptic basis of social dysfunction: a focus on postsynaptic proteins linking group-I mGluRs with AMPARs and NMDARs

(2014) Eoin C. O'Connor et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

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

(2014) Stefanie Grabrucker et al.   EXPERIMENTAL NEUROLOGY

Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms

(2014) Anand K. Srivastava et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

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

The emerging role ofSHANKgenes in neuropsychiatric disorders

(2013) Audrey Guilmatre et al.   Developmental Neurobiology

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

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

Shank3 Deficiency Induces NMDA Receptor Hypofunction via an Actin-Dependent Mechanism

(2013) L. J. Duffney et al.   JOURNAL OF NEUROSCIENCE

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

(2013) Kihoon Han et al.   NATURE

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

(2013) Latha Soorya et al.   Molecular Autism

Abnormalities of joint mobility and gait in children with autism spectrum disorders

(2012) Maya Shetreat-Klein et al.   BRAIN & DEVELOPMENT

Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion

(2012) Ksenija Vucurovic et al.   European Journal of Medical 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

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

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

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)

(2011) S. M. Sarasua et al.   JOURNAL OF MEDICAL GENETICS

Loss of Tsc1 In Vivo Impairs Hippocampal mGluR-LTD and Increases Excitatory Synaptic Function

(2011) H. S. Bateup et al.   JOURNAL OF NEUROSCIENCE

Sapap3 Deletion Causes mGluR5-Dependent Silencing of AMPAR Synapses

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

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

SHANK3,the Synapse, and Autism

(2011) Martha R. Herbert   NEW ENGLAND JOURNAL OF 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

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

Disruption of glutamate receptors at Shank-postsynaptic platform in Alzheimer's disease

(2009) Yuesong Gong et al.   BRAIN RESEARCH

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

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

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