Reciprocal signaling between translational control pathways and synaptic proteins in autism spectrum disorders

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening

(2014) Maria Marchese et al.   BMC Medical Genetics

Pten haploinsufficient mice show broad brain overgrowth but selective impairments in autism-relevant behavioral tests

(2014) Amy E. Clipperton-Allen et al.   HUMAN MOLECULAR GENETICS

Common EIF4E variants modulate risk for autism spectrum disorders in the high-functioning range

(2014) Regina Waltes et al.   JOURNAL OF NEURAL TRANSMISSION

Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome

(2014) D. Colak et al.   SCIENCE

Autism-associated gene Dlgap2 mutant mice demonstrate exacerbated aggressive behaviors and orbitofrontal cortex deficits

(2014) Li-Feng Jiang-Xie et al.   Molecular Autism

Autism genetics

(2013) Antonio M. Persico et al.   BEHAVIOURAL BRAIN RESEARCH

Activity-dependent neuronal signalling and autism spectrum disorder

(2013) Daniel H. Ebert et al.   NATURE

Genetic and acute CPEB1 depletion ameliorate fragile X pathophysiology

(2013) Tsuyoshi Udagawa et al.   NATURE MEDICINE

The translation of translational control by FMRP: therapeutic targets for FXS

(2013) Jennifer C Darnell et al.   NATURE NEUROSCIENCE

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

(2012) Jonathan T. Ting 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

Genetic architecture in autism spectrum disorder

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

PTEN signaling in autism spectrum disorders

(2012) Jing Zhou 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

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

BC1-FMRP interaction is modulated by 2′-O-methylation: RNA-binding activity of the tudor domain and translational regulation at synapses

(2012) Caroline Lacoux et al.   NUCLEIC ACIDS RESEARCH

Approach to the Genetic Evaluation of the Child with Autism

(2012) Helga V. Toriello   PEDIATRIC CLINICS OF NORTH AMERICA

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

(2012) H. Y. Zoghbi et al.   Cold Spring Harbor Perspectives in Biology

Common genetic variants, acting additively, are a major source of risk for autism

(2012) Lambertus Klei et al.   Molecular Autism

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

(2011) Jennifer C. Darnell et al.   CELL

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

(2011) Xiaoming Wang et al.   HUMAN MOLECULAR GENETICS

Phosphatase and Tensin Homolog (PTEN) Gene Mutations and Autism: Literature Review and a Case Report of a Patient With Cowden Syndrome, Autistic Disorder, and Epilepsy

(2011) Sara Conti et al.   JOURNAL OF CHILD NEUROLOGY

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study

(2011) S. Ozonoff et al.   PEDIATRICS

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

(2011) Markus Wöhr et al.   PLoS One

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

(2011) Chikako Waga et al.   PSYCHIATRIC GENETICS

Genetics of autism spectrum disorders

(2011) Daniel H. Geschwind   TRENDS IN COGNITIVE SCIENCES

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

22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

(2010) S.U. Dhar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Family-based genetic association study of DLGAP3 in Tourette Syndrome

(2010) Jacquelyn Crane et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Sociability and motor functions in Shank1 mutant mice

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

Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population

(2010) Leigh Boardman et al.   COMPREHENSIVE PSYCHIATRY

Excess Phosphoinositide 3-Kinase Subunit Synthesis and Activity as a Novel Therapeutic Target in Fragile X Syndrome

(2010) C. Gross et al.   JOURNAL OF NEUROSCIENCE

Dysregulation of mTOR Signaling in Fragile X Syndrome

(2010) A. Sharma et al.   JOURNAL OF NEUROSCIENCE

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

(2010) Dalila Pinto et al.   NATURE

Tsc2-Rheb signaling regulates EphA-mediated axon guidance

(2010) Duyu Nie et al.   NATURE NEUROSCIENCE

Fragile X: Leading the way for targeted treatments in autism

(2010) Lulu W. Wang et al.   Neurotherapeutics

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

Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA

(2009) Bradford Coffee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

NovelPTENmutations in neurodevelopmental disorders and macrocephaly

(2009) A Orrico et al.   CLINICAL GENETICS

A synaptic trek to autism

(2009) Thomas Bourgeron   CURRENT OPINION IN NEUROBIOLOGY

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

Fragile X Mental Retardation Protein Regulates the Levels of Scaffold Proteins and Glutamate Receptors in Postsynaptic Densities

(2009) Janin Schütt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders

(2009) Pat Levitt et al.   JOURNAL OF CLINICAL INVESTIGATION

Deregulation of EIF4E: a novel mechanism for autism

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

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

Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

(2009) Fadi F. Hamdan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Haploinsufficiency forPtenandSerotonin transportercooperatively influences brain size and social behavior

(2009) Damon T. Page et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

(2008) Hyung-Goo Kim 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

Sapap3and pathological grooming in humans: Results from the OCD collaborative genetics study

(2008) O.J. Bienvenu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

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

Familial deletion within NLGN4 associated with autism and Tourette syndrome

(2008) Amy Lawson-Yuen 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

Response of a Neuronal Model of Tuberous Sclerosis to Mammalian Target of Rapamycin (mTOR) Inhibitors: Effects on mTORC1 and Akt Signaling Lead to Improved Survival and Function

(2008) L. Meikle et al.   JOURNAL OF NEUROSCIENCE

Multiple rare SAPAP3 missense variants in trichotillomania and OCD

(2008) S Züchner et al.   MOLECULAR PSYCHIATRY

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

Neurexin 1α structural variants associated with autism

(2008) Jin Yan et al.   NEUROSCIENCE LETTERS

Deletion 22q13.3 syndrome

(2008) Mary C Phelan   Orphanet Journal of Rare Diseases

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

Abnormal Striatal GABA Transmission in the Mouse Model for the Fragile X Syndrome

(2007) Diego Centonze et al.   BIOLOGICAL PSYCHIATRY