Neurobiology of autism gene products: towards pathogenesis and drug targets

Animal Models of Autism Spectrum Disorder (ASD): A Synaptic-Level Approach to Autistic-Like Behavior in Mice

(2013) Yo SHINODA et al.   EXPERIMENTAL ANIMALS

Studying Autism in Rodent Models: Reconciling Endophenotypes with Comorbidities

(2013) Andrew Argyropoulos et al.   Frontiers in Human Neuroscience

Topoisomerases facilitate transcription of long genes linked to autism

(2013) Ian F. King et al.   NATURE

Activity-dependent neuronal signalling and autism spectrum disorder

(2013) Daniel H. Ebert et al.   NATURE

Progress toward treatments for synaptic defects in autism

(2013) Richard Delorme et al.   NATURE MEDICINE

Targeting the endocannabinoid system in the treatment of fragile X syndrome

(2013) Arnau Busquets-Garcia et al.   NATURE MEDICINE

Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons

(2013) Jocelyn F Krey et al.   NATURE NEUROSCIENCE

Top3β is an RNA topoisomerase that works with fragile X syndrome protein to promote synapse formation

(2013) Dongyi Xu et al.   NATURE NEUROSCIENCE

Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders

(2013) Georg Stoll et al.   NATURE NEUROSCIENCE

Autism-Associated Neuroligin-3 Mutations Commonly Disrupt Tonic Endocannabinoid Signaling

(2013) Csaba Földy et al.   NEURON

Lovastatin Corrects Excess Protein Synthesis and Prevents Epileptogenesis in a Mouse Model of Fragile X Syndrome

(2013) Emily K. Osterweil et al.   NEURON

Modeling Autism by SHANK Gene Mutations in Mice

(2013) Yong-hui Jiang et al.   NEURON

Altered Social Behaviours in Neurexin 1α Knockout Mice Resemble Core Symptoms in Neurodevelopmental Disorders

(2013) Hannah Mary Grayton et al.   PLoS One

Impact of acamprosate on behavior and brain-derived neurotrophic factor: an open-label study in youth with fragile X syndrome

(2013) Craig A. Erickson et al.   PSYCHOPHARMACOLOGY

Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay

(2013) Ozlem Bozdagi et al.   Molecular Autism

SHANK1 Deletions in Males with Autism Spectrum Disorder

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

Functional Consequences of Mutations in Postsynaptic Scaffolding Proteins and Relevance to Psychiatric Disorders

(2012) Jonathan T. Ting et al.   Annual Review of Neuroscience

Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2

(2012) Markus Wöhr et al.   BEHAVIOURAL BRAIN RESEARCH

Homodimerization and isoform-specific heterodimerization of neuroligins

(2012) Alexandros Poulopoulos et al.   BIOCHEMICAL JOURNAL

mTOR: The Master Regulator

(2012)   CELL

Genetic architecture in autism spectrum disorder

(2012) Bernie Devlin et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Targeted treatment trials for tuberous sclerosis and autism: no longer a dream

(2012) Mustafa Sahin   CURRENT OPINION IN NEUROBIOLOGY

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

PTEN signaling in autism spectrum disorders

(2012) Jing Zhou et al.   CURRENT OPINION IN NEUROBIOLOGY

Pten deletion causes mTorc1-dependent ectopic neuroblast differentiation without causing uniform migration defects

(2012) G. Zhu et al.   DEVELOPMENT

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

(2012) Christian P Schaaf et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

Absence of deficits in social behaviors and ultrasonic vocalizations in later generations of mice lacking neuroligin4

(2012) E. Ey et al.   GENES BRAIN AND BEHAVIOR

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

eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

(2012) Guntram Borck et al.   MOLECULAR CELL

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

(2012) Hyejung Won et al.   NATURE

Exaggerated translation causes synaptic and behavioural aberrations associated with autism

(2012) Emanuela Santini et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Neuroligin-1–dependent competition regulates cortical synaptogenesis and synapse number

(2012) Hyung-Bae Kwon et al.   NATURE NEUROSCIENCE

EU-AIMS: a boost to autism research

(2012) Declan Murphy et al.   NATURE REVIEWS DRUG DISCOVERY

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

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

The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders

(2012) Joseph D. Buxbaum et al.   NEURON

Genetic Removal of p70 S6 Kinase 1 Corrects Molecular, Synaptic, and Behavioral Phenotypes in Fragile X Syndrome Mice

(2012) Aditi Bhattacharya et al.   NEURON

Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice

(2012) Aubin Michalon et al.   NEURON

From genes to cognition in tuberous sclerosis: Implications for mTOR inhibitor-based treatment approaches

(2012) Dan Ehninger   NEUROPHARMACOLOGY

An epigenetic framework for neurodevelopmental disorders: From pathogenesis to potential therapy

(2012) Mark J. Millan   NEUROPHARMACOLOGY

Animal models of autism with a particular focus on the neural basis of changes in social behaviour: An update article

(2012) Lucia Olexová et al.   NEUROSCIENCE RESEARCH

The GABA Excitatory/Inhibitory Shift in Brain Maturation and Neurological Disorders

(2012) Yehezkel Ben-Ari et al.   NEUROSCIENTIST

Mitochondrial Dysfunction in Pten Haplo-Insufficient Mice with Social Deficits and Repetitive Behavior: Interplay between Pten and p53

(2012) Eleonora Napoli et al.   PLoS One

Shared Synaptic Pathophysiology in Syndromic and Nonsyndromic Rodent Models of Autism

(2012) S. J. Baudouin et al.   SCIENCE

What does CNTNAP2 reveal about autism spectrum disorder?

(2012) Olga Peñagarikano et al.   TRENDS IN MOLECULAR MEDICINE

Synapse dysfunction in autism: a molecular medicine approach to drug discovery in neurodevelopmental disorders

(2012) Will Spooren et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Higher-Order Architecture of Cell Adhesion Mediated by Polymorphic Synaptic Adhesion Molecules Neurexin and Neuroligin

(2012) Hiroki Tanaka et al.   Cell Reports

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

A randomised controlled trial of bumetanide in the treatment of autism in children

(2012) E Lemonnier et al.   Translational Psychiatry

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

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

(2011) Jennifer C. Darnell et al.   CELL

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

(2011) Olga Peñagarikano et al.   CELL

Modeling Human Disease in Humans: The Ciliopathies

(2011) Gaia Novarino et al.   CELL

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders

(2011) Ji E Lee et al.   CURRENT OPINION IN NEUROLOGY

Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation

(2011) Andreas M Grabrucker et al.   EMBO JOURNAL

Pten ablation in adult dopaminergic neurons is neuroprotective in Parkinson's disease models

(2011) Andrii Domanskyi et al.   FASEB JOURNAL

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

(2011) Simone Berkel 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

An Open-Label Naturalistic Pilot Study of Acamprosate in Youth with Autistic Disorder

(2011) Craig A. Erickson et al.   JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY

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

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

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

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

The conundrums of understanding genetic risks for autism spectrum disorders

(2011) Matthew W State et al.   NATURE NEUROSCIENCE

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman et al.   NEURON

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

The role of neurexins in schizophrenia and autistic spectrum disorder

(2011) A.C. Reichelt et al.   NEUROPHARMACOLOGY

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

(2011) Markus Wöhr et al.   PLoS One

Neuroligin-4 is localized to glycinergic postsynapses and regulates inhibition in the retina

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

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

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

(2011) S. Jacquemont et al.   Science Translational Medicine

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

The diuretic bumetanide decreases autistic behaviour in five infants treated during 3 months with no side effects

(2010) Eric Lemonnier et al.   ACTA PAEDIATRICA

Connecting Genes to Brain in the Autism Spectrum Disorders

(2010) Brett S. Abrahams et al.   ARCHIVES OF NEUROLOGY

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

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

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

Synapse Pathology in Psychiatric and Neurologic Disease

(2010) Myrrhe van Spronsen et al.   Current Neurology and Neuroscience Reports

Genetic causes of syndromic and non-syndromic autism

(2010) AHMET O CAGLAYAN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Hypersensitivity to mGluR5 and ERK1/2 Leads to Excessive Protein Synthesis in the Hippocampus of a Mouse Model of Fragile X Syndrome

(2010) E. K. Osterweil 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

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

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

(2010) Simone Berkel et al.   NATURE GENETICS

Behavioural phenotyping assays for mouse models of autism

(2010) Jill L. Silverman et al.   NATURE REVIEWS 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

Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders

(2010) Dan Ehninger et al.   TRENDS IN MOLECULAR MEDICINE

Phenotypic checkpoints regulate neuronal development

(2010) Yehezkel Ben-Ari et al.   TRENDS IN NEUROSCIENCES

Autism and Nonsyndromic Mental Retardation Associated with a De Novo Mutation in the NLGN4X Gene Promoter Causing an Increased Expression Level

(2009) Hussein Daoud et al.   BIOLOGICAL PSYCHIATRY

Genetic advances in autism: heterogeneity and convergence on shared pathways

(2009) Brent R Bill et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit

(2009) K. Radyushkin et al.   GENES BRAIN AND BEHAVIOR

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

PTEN hamartoma tumor syndrome: An overview

(2009) Judith A Hobert et al.   GENETICS IN MEDICINE

Deregulation of EIF4E: a novel mechanism for autism

(2009) M Neves-Pereira et al.   JOURNAL OF MEDICAL GENETICS

A pilot open label, single dose trial of fenobam in adults with fragile X syndrome

(2009) E Berry-Kravis et al.   JOURNAL OF MEDICAL GENETICS

Abnormal Network Activity in a Targeted Genetic Model of Human Double Cortex

(2009) J. B. Ackman et al.   JOURNAL OF NEUROSCIENCE

A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export

(2009) C. Zhang et al.   JOURNAL OF NEUROSCIENCE

Pharmacological Inhibition of mTORC1 Suppresses Anatomical, Cellular, and Behavioral Abnormalities in Neural-Specific Pten Knock-Out Mice

(2009) J. Zhou et al.   JOURNAL OF NEUROSCIENCE

Altered synchrony and connectivity in neuronal networks expressing an autism-related mutation of neuroligin 3

(2009) R.C. Gutierrez et al.   NEUROSCIENCE

Postsynaptic scaffolding molecules modulate the localization of neuroligins

(2009) J.N. Levinson et al.   NEUROSCIENCE

Endocannabinoid-Mediated Control of Synaptic Transmission

(2009) Masanobu Kano et al.   PHYSIOLOGICAL REVIEWS

Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism

(2009) Bert van der Zwaag et al.   PLoS One

Selective Deletion of PTEN in Dopamine Neurons Leads to Trophic Effects and Adaptation of Striatal Medium Spiny Projecting Neurons

(2009) Oscar Diaz-Ruiz et al.   PLoS One

Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

(2009) Daniela Tropea et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Synapse- and Stimulus-Specific Local Translation During Long-Term Neuronal Plasticity

(2009) D. O. Wang et al.   SCIENCE

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

(2009) Catalina Betancur et al.   TRENDS IN NEUROSCIENCES

Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

(2008) Maricela Alarcón et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature

(2008) Thomas V. Fernandez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel de novo SHANK3 mutation in autistic patients

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

Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice

(2008) Kathryn K. Chadman et al.   Autism Research

Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder

(2008) Daniel B. Campbell et al.   Autism Research

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL

The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP

(2008) Ilaria Napoli et al.   CELL

PTEN hamartoma tumor syndromes

(2008) Gideon M Blumenthal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Association of common variants in the Joubert syndrome gene (AHI1) with autism

(2008) Ana I. Alvarez Retuerto et al.   HUMAN MOLECULAR GENETICS

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

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

Multiple Molecular Interactions Determine the Clustering of Caspr2 and Kv1 Channels in Myelinated Axons

(2008) I. Horresh et al.   JOURNAL OF NEUROSCIENCE

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

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

(2008) Dan Ehninger et al.   NATURE MEDICINE

Reversing Neurodevelopmental Disorders in Adults

(2008) Dan Ehninger et al.   NEURON

Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome

(2008) M S Orloff et al.   ONCOGENE

PTEN signaling in brain: neuropathology and tumorigenesis

(2008) R Endersby et al.   ONCOGENE

Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism

(2008) S. Jamain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities

(2007) M.M. Fraser et al.   NEUROSCIENCE