Synaptopathology Involved in Autism Spectrum Disorder

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

(2018) S. Moutton et al.   CLINICAL GENETICS

Genetic association between SHANK2 polymorphisms and susceptibility to autism spectrum disorder

(2018) Ye Bai et al.   IUBMB LIFE

Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin

(2018) Maria Sundberg et al.   MOLECULAR PSYCHIATRY

Neurexin–Neuroligin 1 regulates synaptic morphology and functions via the WAVE regulatory complex in Drosophila neuromuscular junction

(2018) Guanglin Xing et al.   eLife

Shank2 Deletion in Parvalbumin Neurons Leads to Moderate Hyperactivity, Enhanced Self-Grooming and Suppressed Seizure Susceptibility in Mice

(2018) Seungjoon Lee et al.   Frontiers in Molecular Neuroscience

A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family

(2018) Haiming Yuan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Gephyrin: a key regulatory protein of inhibitory synapses and beyond

(2018) Femke L. Groeneweg et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Adult Ube3a Gene Reinstatement Restores the Electrophysiological Deficits of Prefrontal Cortex Layer 5 Neurons in a Mouse Model of Angelman Syndrome

(2018) Diana C. Rotaru et al.   JOURNAL OF NEUROSCIENCE

α-Neurexins Together with α2δ-1 Auxiliary Subunits Regulate Ca2+ Influx through Cav2.1 Channels

(2018) Johannes Brockhaus et al.   JOURNAL OF NEUROSCIENCE

Inhibition of GluN2A NMDA receptors ameliorates synaptic plasticity deficits in the Fmr1−/y mouse model

(2018) Camilla J. Lundbye et al.   JOURNAL OF PHYSIOLOGY-LONDON

Neuroligin 1, 2, and 3 Regulation at the Synapse: FMRP-Dependent Translation and Activity-Induced Proteolytic Cleavage

(2018) Joanna J. Chmielewska et al.   MOLECULAR NEUROBIOLOGY

Identification of a molecular locus for normalizing dysregulated GABA release from interneurons in the Fragile X brain

(2018) Yi-Mei Yang et al.   MOLECULAR PSYCHIATRY

Fragile X mental retardation 1 gene enhances the translation of large autism-related proteins

(2018) Ethan J. Greenblatt et al.   SCIENCE

A unique intracellular tyrosine in neuroligin-1 regulates AMPA receptor recruitment during synapse differentiation and potentiation

(2018) Mathieu Letellier et al.   Nature Communications

Aberrant cognitive phenotypes and altered hippocampal BDNF expression related to epigenetic modifications in mice lacking the post-synaptic scaffolding protein SHANK1: Implications for autism spectrum disorder

(2017) A. Özge Sungur et al.   HIPPOCAMPUS

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

(2017) Holly A F Stessman et al.   NATURE GENETICS

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

(2017) Patricia Monteiro et al.   NATURE REVIEWS NEUROSCIENCE

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

(2017) Chae-Seok Lim et al.   NEUROPHARMACOLOGY

mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex

(2017) Elyza Kelly et al.   NEUROPSYCHOPHARMACOLOGY

Multifarious Functions of the Fragile X Mental Retardation Protein

(2017) Jenna K. Davis et al.   TRENDS IN GENETICS

Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity

(2017) James Gilbert et al.   Frontiers in Cellular Neuroscience

Altered surface mGluR5 dynamics provoke synaptic NMDAR dysfunction and cognitive defects in Fmr1 knockout mice

(2017) Elisabetta Aloisi et al.   Nature Communications

Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

(2017) James D. Mills et al.   Scientific Reports

Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort

(2017) Hui Guo et al.   Scientific Reports

Activity-Dependent Arc Expression and Homeostatic Synaptic Plasticity Are Altered in Neurons from a Mouse Model of Angelman Syndrome

(2017) Elissa D. Pastuzyn et al.   Frontiers in Molecular Neuroscience

Loss of FMRP Impaired Hippocampal Long-Term Plasticity and Spatial Learning in Rats

(2017) Yonglu Tian et al.   Frontiers in Molecular Neuroscience

Cell-Specific Regulation of N-Methyl-D-Aspartate Receptor Maturation by Mecp2 in Cortical Circuits

(2016) Susanna B. Mierau et al.   BIOLOGICAL PSYCHIATRY

FMRP-dependent Mdm2 dephosphorylation is required for MEF2-induced synapse elimination

(2016) Nien-Pei Tsai et al.   HUMAN MOLECULAR GENETICS

Association analysis of genetic variant of rs13331 in PSD95 gene with autism spectrum disorders: A case-control study in a Chinese population

(2016) Jia Wang et al.   Journal of Huazhong University of Science and Technology-Medical Sciences

Perturbed proteostasis in autism spectrum disorders

(2016) Susana R. Louros et al.   JOURNAL OF NEUROCHEMISTRY

Enhancement of postsynaptic GABAA and extrasynaptic NMDA receptor-mediated responses in the barrel cortex of Mecp2-null mice

(2016) Fu-Sun Lo et al.   JOURNAL OF NEUROPHYSIOLOGY

Dysregulated NMDA-Receptor Signaling Inhibits Long-Term Depression in a Mouse Model of Fragile X Syndrome

(2016) A. K. H. Toft et al.   JOURNAL OF NEUROSCIENCE

Shank Modulates Postsynaptic Wnt Signaling to Regulate Synaptic Development

(2016) K. P. Harris et al.   JOURNAL OF NEUROSCIENCE

Angelman syndrome — insights into a rare neurogenetic disorder

(2016) Karin Buiting et al.   Nature Reviews Neurology

GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility

(2016) Matthew C. Judson et al.   NEURON

Excitatory synapses are stronger in the hippocampus of Rett syndrome mice due to altered synaptic trafficking of AMPA-type glutamate receptors

(2016) Wei Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Maternal immune activation: Implications for neuropsychiatric disorders

(2016) M. L. Estes et al.   SCIENCE

Rescue of Cyclic AMP Mediated Long Term Potentiation Impairment in the Hippocampus of Mecp2 Knockout (Mecp2-/y) Mice by Rolipram

(2016) Saju Balakrishnan et al.   Frontiers in Cellular Neuroscience

Several posttranslational modifications act in concert to regulate gephyrin scaffolding and GABAergic transmission

(2016) Himanish Ghosh et al.   Nature Communications

De novo genic mutations among a Chinese autism spectrum disorder cohort

(2016) Tianyun Wang et al.   Nature Communications

mTORC1 Inhibition Corrects Neurodevelopmental and Synaptic Alterations in a Human Stem Cell Model of Tuberous Sclerosis

(2016) Veronica Costa et al.   Cell Reports

Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila

(2016) Wenhua Li et al.   PLoS Genetics

Antidepressant Use During Pregnancy and the Risk of Autism Spectrum Disorder in Children

(2016) Takoua Boukhris et al.   JAMA Pediatrics

Proteostasis and RNA Binding Proteins in Synaptic Plasticity and in the Pathogenesis of Neuropsychiatric Disorders

(2016) Matthew E. Klein et al.   NEURAL PLASTICITY

The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder

(2016) Mark N. Ziats et al.   Frontiers in Genetics

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

A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders

(2015) Jie Hu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Synaptic Vesicle Release Machinery

(2015) Josep Rizo et al.   Annual Review of Biophysics

Early communication deficits in theShank1knockout mouse model for autism spectrum disorder: Developmental aspects and effects of social context

(2015) A. Özge Sungur et al.   Autism Research

Heterozygous deletion of α-neurexin I or α-neurexin II results in behaviors relevant to autism and schizophrenia.

(2015) James Dachtler et al.   BEHAVIORAL NEUROSCIENCE

Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1

(2015) ChangHui Pak et al.   Cell Stem Cell

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

(2015) B. Dejanovic et al.   EMBO Molecular Medicine

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

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

Conserved hippocampal cellular pathophysiology but distinct behavioural deficits in a new rat model of FXS

(2015) Sally M. Till et al.   HUMAN MOLECULAR GENETICS

Hyperactivity of Newborn Pten Knock-out Neurons Results from Increased Excitatory Synaptic Drive

(2015) M. R. Williams et al.   JOURNAL OF NEUROSCIENCE

Protein Kinase C-Dependent Growth-Associated Protein 43 Phosphorylation Regulates Gephyrin Aggregation at Developing GABAergic Synapses

(2015) Chen-Yu Wang et al.   MOLECULAR AND CELLULAR BIOLOGY

Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders

(2015) Sacha B. Nelson et al.   NEURON

Autistic-Like Traits and Cerebellar Dysfunction in Purkinje Cell PTEN Knock-Out Mice

(2015) Dario Cupolillo et al.   NEUROPSYCHOPHARMACOLOGY

NR2B subunit in the prefrontal cortex: A double-edged sword for working memory function and psychiatric disorders

(2015) Sarah A. Monaco et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

(2015) Aglaia Vignoli et al.   Orphanet Journal of Rare Diseases

Progressive maturation of silent synapses governs the duration of a critical period

(2015) Xiaojie Huang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fmr1deficiency promotes age-dependent alterations in the cortical synaptic proteome

(2015) Bin Tang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders

(2015) Janine M LaSalle et al.   Epigenomics

UBE3A Regulates Synaptic Plasticity and Learning and Memory by Controlling SK2 Channel Endocytosis

(2015) Jiandong Sun et al.   Cell Reports

Perturbed Hippocampal Synaptic Inhibition and γ-Oscillations in a Neuroligin-4 Knockout Mouse Model of Autism

(2015) Matthieu Hammer et al.   Cell Reports

Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample

(2015) Emma Colvert et al.   JAMA Psychiatry

FMRP interacts with G-quadruplex structures in the 3’-UTR of its dendritic target Shank1 mRNA

(2015) Yang Zhang et al.   RNA Biology

Autism-Related Neuroligin-3 Mutation Alters Social Behavior and Spatial Learning

(2014) Thomas C. Jaramillo et al.   Autism Research

Electrophysiological Phenotypes of MeCP2 A140V Mutant Mouse Model

(2014) Lu-Yao Ma et al.   CNS Neuroscience & Therapeutics

Mutation Screening of the Neurexin 1 Gene in Thai Patients with Intellectual Disability and Autism Spectrum Disorder

(2014) Supaporn Yangngam et al.   Genetic Testing and Molecular Biomarkers

Excitation/inhibition imbalance and impaired synaptic inhibition in hippocampal area CA3 ofMecp2knockout mice

(2014) Gaston Calfa et al.   HIPPOCAMPUS

The Familial Risk of Autism

(2014) Sven Sandin et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes

(2014) Laura Spinelli et al.   JOURNAL OF MEDICAL GENETICS

Changes in mGlu5 Receptor-Dependent Synaptic Plasticity and Coupling to Homer Proteins in the Hippocampus of Ube3A Hemizygous Mice Modeling Angelman Syndrome

(2014) M. Pignatelli et al.   JOURNAL OF NEUROSCIENCE

Neuronal Nitric Oxide Synthase-Dependent S-Nitrosylation of Gephyrin Regulates Gephyrin Clustering at GABAergic Synapses

(2014) B. Dejanovic et al.   JOURNAL OF NEUROSCIENCE

Repetitive behaviors in the Shank1 knockout mouse model for autism spectrum disorder: Developmental aspects and effects of social context

(2014) A. Özge Sungur et al.   JOURNAL OF NEUROSCIENCE METHODS

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Most genetic risk for autism resides with common variation

(2014) Trent Gaugler et al.   NATURE GENETICS

GABAergic circuit dysfunction in the Drosophila Fragile X syndrome model

(2014) Cheryl L. Gatto et al.   NEUROBIOLOGY OF DISEASE

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

(2014) Borislav Dejanovic et al.   NEUROBIOLOGY OF DISEASE

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families

(2014) Gerald Egger et al.   NEUROGENETICS

Economic Burden of Childhood Autism Spectrum Disorders

(2014) T. A. Lavelle et al.   PEDIATRICS

PSD95 Suppresses Dendritic Arbor Development in Mature Hippocampal Neurons by Occluding the Clustering of NR2B-NMDA Receptors

(2014) Fernando J. Bustos et al.   PLoS One

Activity-dependent inhibitory synapse remodeling through gephyrin phosphorylation

(2014) Carmen E. Flores et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

G quadruplex RNA structures in PSD-95 mRNA: potential regulators of miR-125a seed binding site accessibility

(2014) Snezana Stefanovic et al.   RNA

Reduced synaptic activity in neuronal networks derived from embryonic stem cells of murine Rett syndrome model

(2014) Lydia Barth et al.   Frontiers in Cellular Neuroscience

Synaptic recruitment of gephyrin regulates surface GABAA receptor dynamics for the expression of inhibitory LTP

(2014) Enrica Maria Petrini et al.   Nature Communications

A Role for Dendritic mGluR5-Mediated Local Translation of Arc/Arg3.1 in MEF2-Dependent Synapse Elimination

(2014) Julia R. Wilkerson et al.   Cell Reports

Palmitoylation of Gephyrin Controls Receptor Clustering and Plasticity of GABAergic Synapses

(2014) Borislav Dejanovic et al.   PLOS BIOLOGY

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

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

Deletion of α-neurexin II results in autism-related behaviors in mice

(2014) J Dachtler et al.   Translational Psychiatry

The Genetic Landscapes of Autism Spectrum Disorders

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

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

(2013) Neelroop N. Parikshak et al.   CELL

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly

(2013) Judith A Hobert et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services

(2013) Jennifer L. Roberts et al.   GENE

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

(2013) Anath C. Lionel et al.   HUMAN MOLECULAR GENETICS

Extracellular Signal-regulated Kinase and Glycogen Synthase Kinase 3β Regulate Gephyrin Postsynaptic Aggregation and GABAergic Synaptic Function in a Calpain-dependent Mechanism

(2013) Shiva K. Tyagarajan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Fetal antiepileptic drug exposure and cognitive outcomes at age 6 years (NEAD study): a prospective observational study

(2013) Kimford J Meador et al.   LANCET NEUROLOGY

Elevated maternal C-reactive protein and autism in a national birth cohort

(2013) A S Brown et al.   MOLECULAR PSYCHIATRY

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

(2013) Aleksandr Shcheglovitov et al.   NATURE

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

(2013) Alex R. Paciorkowski et al.   NEUROGENETICS

Comorbidity Clusters in Autism Spectrum Disorders: An Electronic Health Record Time-Series Analysis

(2013) Finale Doshi-Velez et al.   PEDIATRICS

PSD-95 promotes the stabilization of young synaptic contacts

(2013) C. E. Taft et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Role of the ubiquitin ligase E6AP/UBE3A in controlling levels of the synaptic protein Arc

(2013) S. Kuhnle et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dysregulation of synaptic plasticity precedes appearance of morphological defects in a Pten conditional knockout mouse model of autism

(2013) K. Takeuchi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neurexins

(2013) Carsten Reissner et al.   GENOME BIOLOGY

SHANK1 Deletions in Males with Autism Spectrum Disorder

(2012) Daisuke Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reversal of Impaired Hippocampal Long-Term Potentiation and Contextual Fear Memory Deficits in Angelman Syndrome Model Mice by ErbB Inhibitors

(2012) Hanoch Kaphzan et al.   BIOLOGICAL PSYCHIATRY

Multiple Autism-Linked Genes Mediate Synapse Elimination via Proteasomal Degradation of a Synaptic Scaffold PSD-95

(2012) Nien-Pei Tsai et al.   CELL

The role of neurexins and neuroligins in the formation, maturation, and function of vertebrate synapses

(2012) Dilja D Krueger et al.   CURRENT OPINION IN NEUROBIOLOGY

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

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

Multiple Roles for Mammalian Target of Rapamycin Signaling in Both Glutamatergic and GABAergic Synaptic Transmission

(2012) M. C. Weston et al.   JOURNAL OF NEUROSCIENCE

A Mouse Model for MeCP2 Duplication Syndrome: MeCP2 Overexpression Impairs Learning and Memory and Synaptic Transmission

(2012) E. S. Na et al.   JOURNAL OF NEUROSCIENCE

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

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

Advancing Maternal Age Is Associated With Increasing Risk for Autism: A Review and Meta-Analysis

(2012) Sven Sandin et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

(2012) Michael J. Schmeisser et al.   NATURE

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

(2012) Hyejung Won et al.   NATURE

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

(2012) Peter T. Tsai et al.   NATURE

Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome

(2012) Jennifer A Ronesi et al.   NATURE NEUROSCIENCE

MEF2 negatively regulates learning-induced structural plasticity and memory formation

(2012) Christina J Cole et al.   NATURE NEUROSCIENCE

Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation

(2012) Rafael J. Camacho-Garcia et al.   NEUROBIOLOGY OF DISEASE

Maternal Loss of Ube3a Produces an Excitatory/Inhibitory Imbalance through Neuron Type-Specific Synaptic Defects

(2012) Michael L. Wallace et al.   NEURON

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

(2012) Aparna Prasad et al.   G3-Genes Genomes Genetics

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

(2011) Andrea K. Vaags et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence of Autism Spectrum Disorders in a Total Population Sample

(2011) Young Shin Kim et al.   AMERICAN JOURNAL OF PSYCHIATRY

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus

(2011) Mark R Etherton et al.   EMBO JOURNAL

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

(2011) Julie Gauthier et al.   HUMAN GENETICS

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

(2011) Xiaoming Wang et al.   HUMAN MOLECULAR GENETICS

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

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

PSD-95 Is Required to Sustain the Molecular Organization of the Postsynaptic Density

(2011) X. Chen et al.   JOURNAL OF NEUROSCIENCE

Pten Knockdown In Vivo Increases Excitatory Drive onto Dentate Granule Cells

(2011) B. W. Luikart et al.   JOURNAL OF NEUROSCIENCE

Phosphatase and tensin homologue (PTEN) regulates synaptic plasticity independently of its effect on neuronal morphology and migration

(2011) Margaret Sperow et al.   JOURNAL OF PHYSIOLOGY-LONDON

Reversible Inhibition of PSD-95 mRNA Translation by miR-125a, FMRP Phosphorylation, and mGluR Signaling

(2011) Ravi S. Muddashetty et al.   MOLECULAR CELL

Mutations causing syndromic autism define an axis of synaptic pathophysiology

(2011) Benjamin D. Auerbach et al.   NATURE

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

Synaptic plasticity deficits in an experimental model of rett syndrome: long-term potentiation saturation and its pharmacological reversal

(2011) S.-M. Weng et al.   NEUROSCIENCE

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

(2011) Markus Wöhr et al.   PLoS One

Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function

(2011) M. Etherton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Increased Gene Dosage of Ube3a Results in Autism Traits and Decreased Glutamate Synaptic Transmission in Mice

(2011) S. E. P. Smith et al.   Science Translational Medicine

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

(2010) Michael S.L. Ching et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

(2010) Kim L. McBride et al.   Autism Research

Autism and epilepsy: Historical perspective

(2010) Roberto Tuchman et al.   BRAIN & DEVELOPMENT

Sociability and motor functions in Shank1 mutant mice

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

The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc

(2010) Paul L. Greer et al.   CELL

Refining the phenotype associated withMEF2Chaploinsufficiency

(2010) F Novara et al.   CLINICAL GENETICS

Protein homeostasis and synaptic plasticity

(2010) Iván J Cajigas et al.   EMBO JOURNAL

PTEN is recruited to the postsynaptic terminal for NMDA receptor-dependent long-term depression

(2010) Sandra Jurado et al.   EMBO JOURNAL

Overexpression of the cell adhesion protein neuroligin-1 induces learning deficits and impairs synaptic plasticity by altering the ratio of excitation to inhibition in the hippocampus

(2010) Regina Dahlhaus et al.   HIPPOCAMPUS

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

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

Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies

(2010) C M Hultman et al.   MOLECULAR PSYCHIATRY

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

(2010) Hsiao-Tuan Chao et al.   NATURE

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

(2010) Simone Berkel et al.   NATURE GENETICS

Fragile X Mental Retardation Protein Is Required for Synapse Elimination by the Activity-Dependent Transcription Factor MEF2

(2010) Brad E. Pfeiffer et al.   NEURON

Early developmental alterations in GABAergic protein expression in fragile X knockout mice

(2010) Daniel C. Adusei et al.   NEUROPHARMACOLOGY

Regulation of GABAergic synapse formation and plasticity by GSK3 -dependent phosphorylation of gephyrin

(2010) S. K. Tyagarajan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prenatal risk factors for autism: comprehensive meta-analysis

(2009) Hannah Gardener et al.   BRITISH JOURNAL OF PSYCHIATRY

NovelPTENmutations in neurodevelopmental disorders and macrocephaly

(2009) A Orrico et al.   CLINICAL GENETICS

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

(2009) Anna Hackett et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

(2009) Elizabeth A Varga et al.   GENETICS IN MEDICINE

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Organization and dynamics of PDZ-domain-related supramodules in the postsynaptic density

(2009) Wei Feng et al.   NATURE REVIEWS NEUROSCIENCE

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

Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

(2009) Maja Bucan et al.   PLoS Genetics

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel de novo SHANK3 mutation in autistic patients

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

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

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

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

(2008) Juliane Najm et al.   NATURE GENETICS

Reversal of learning deficits in a Tsc2 +/− mouse model of tuberous sclerosis

(2008) Dan Ehninger et al.   NATURE MEDICINE

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

(2008) Amber Hogart et al.   NEUROBIOLOGY OF DISEASE

MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function

(2008) A. C. Barbosa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

(2008) E. M. Morrow et al.   SCIENCE