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

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

(2017) Chae-Seok Lim et al.   NEUROPHARMACOLOGY

Adult restoration of Shank3 expression rescues selective autistic-like phenotypes

(2016) Yuan Mei et al.   NATURE

Neurobiology of social behavior abnormalities in autism and Williams syndrome

(2016) Boaz Barak et al.   NATURE NEUROSCIENCE

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

(2016) Rui T Peixoto 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

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

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

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

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

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

Shank synaptic scaffold proteins: keys to understanding the pathogenesis of autism and other synaptic disorders

(2015) Carlo Sala et al.   JOURNAL OF NEUROCHEMISTRY

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

Perspective: Enforce the clinical guidelines

(2015) Monique Roobol   NATURE

Trans-synaptic zinc mobilization improves social interaction in two mouse models of autism through NMDAR activation

(2015) Eun-Jae Lee et al.   Nature Communications

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

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

Differential Distribution of Shank and GKAP at the Postsynaptic Density

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

In vivo interrogation of gene function in the mammalian brain using CRISPR-Cas9

(2014) Lukasz Swiech et al.   NATURE BIOTECHNOLOGY

Sensory Integration in Mouse Insular Cortex Reflects GABA Circuit Maturation

(2014) Nadine Gogolla et al.   NEURON

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

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

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

The Genetic Landscapes of Autism Spectrum Disorders

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

The emerging role ofSHANKgenes in neuropsychiatric disorders

(2013) Audrey Guilmatre et al.   Developmental Neurobiology

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

Systemic Delivery of MeCP2 Rescues Behavioral and Cellular Deficits in Female Mouse Models of Rett Syndrome

(2013) S. K. Garg 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

Evolution of Synapse Complexity and Diversity

(2012) Richard D. Emes et al.   Annual Review of Neuroscience

The Neural Basis of Empathy

(2012) Boris C. Bernhardt et al.   Annual Review of Neuroscience

Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses

(2012) James P. Clement et al.   CELL

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

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

(2012) Hyejung Won et al.   NATURE

Cognition in Males and Females with Autism: Similarities and Differences

(2012) Meng-Chuan Lai 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

SnapShot: Autism and the Synapse

(2011) João Peça 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

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

(2011) Markus Wöhr et al.   PLoS One

The Postsynaptic Organization of Synapses

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

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

Sociability and motor functions in Shank1 mutant mice

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

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

(2010) Catalina Betancur   BRAIN RESEARCH

The role of anterior insular cortex in social emotions

(2010) Claus Lamm et al.   Brain Structure & Function

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

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

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

(2010) Roberto Toro et al.   TRENDS IN GENETICS

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

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

A synaptic trek to autism

(2009) Thomas Bourgeron   CURRENT OPINION IN NEUROBIOLOGY

Novel de novo SHANK3 mutation in autistic patients

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

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

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

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