Characterizing autism spectrum disorders by key biochemical pathways

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

(2015) Lucas M Bronicki et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The 16p11.2 Deletion Mouse Model of Autism Exhibits Altered Cortical Progenitor Proliferation and Brain Cytoarchitecture Linked to the ERK MAPK Pathway

(2015) J. Pucilowska et al.   JOURNAL OF NEUROSCIENCE

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

(2015) B W M van Bon et al.   MOLECULAR PSYCHIATRY

Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion

(2015) Di Tian et al.   NATURE NEUROSCIENCE

Transient Blockade of ERK Phosphorylation in the Critical Period Causes Autistic Phenotypes as an Adult in Mice

(2015) Shinya Yufune et al.   Scientific Reports

Selective Role of the Catalytic PI3K Subunit p110β in Impaired Higher Order Cognition in Fragile X Syndrome

(2015) Christina Gross et al.   Cell Reports

Mapk/Erk activation in an animal model of social deficits shows a possible link to autism

(2015) Alireza Faridar et al.   Molecular Autism

Effect of lovastatin on behavior in children and adults with fragile X syndrome: An open-label study

(2014) Artuela Çaku et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

PTEN

(2014) Carolyn A. Worby et al.   Annual Review of Biochemistry

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

(2014) Raphael Bernier et al.   CELL

mTOR regulates brain morphogenesis by mediating GSK3 signaling

(2014) M. Ka et al.   DEVELOPMENT

MeCP2 Suppresses Nuclear MicroRNA Processing and Dendritic Growth by Regulating the DGCR8/Drosha Complex

(2014) Tian-Lin Cheng et al.   DEVELOPMENTAL CELL

Autism Spectrum Disorders: From Genotypes to Phenotypes

(2014) Valsamma Eapen et al.   Frontiers in Human Neuroscience

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

Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers

(2014) A. Y. Qureshi et al.   JOURNAL OF NEUROSCIENCE

The Developmental Switch in GABA Polarity Is Delayed in Fragile X Mice

(2014) Q. He et al.   JOURNAL OF NEUROSCIENCE

Genetic Removal of Matrix Metalloproteinase 9 Rescues the Symptoms of Fragile X Syndrome in a Mouse Model

(2014) H. Sidhu et al.   JOURNAL OF NEUROSCIENCE

Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity

(2014) J Ellegood et al.   MOLECULAR PSYCHIATRY

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

An AUTS2–Polycomb complex activates gene expression in the CNS

(2014) Zhonghua Gao et al.   NATURE

The role of de novo mutations in the genetics of autism spectrum disorders

(2014) Michael Ronemus et al.   NATURE REVIEWS GENETICS

Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits

(2014) Guomei Tang et al.   NEURON

Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome

(2014) Jorge Castro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Developmental and maintenance defects in Rett syndrome neurons identified by a new mouse staging system in vitro

(2014) Gabriele Baj et al.   Frontiers in Cellular Neuroscience

MeCP2: multifaceted roles in gene regulation and neural development

(2014) Tian-Lin Cheng et al.   Neuroscience Bulletin

Behavioral Abnormalities and Circuit Defects in the Basal Ganglia of a Mouse Model of 16p11.2 Deletion Syndrome

(2014) Thomas Portmann et al.   Cell Reports

Pharmacogenetic Inhibition of eIF4E-Dependent Mmp9 mRNA Translation Reverses Fragile X Syndrome-like Phenotypes

(2014) Christos G. Gkogkas et al.   Cell Reports

Cytoskeletal Regulation by AUTS2 in Neuronal Migration and Neuritogenesis

(2014) Kei Hori et al.   Cell Reports

mTOR signaling and its roles in normal and abnormal brain development

(2014) Nobuyuki Takei et al.   Frontiers in Molecular Neuroscience

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

(2013) Gea Beunders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High MMP-9 activity levels in fragile X syndrome are lowered by minocycline

(2013) Magdalena Dziembowska et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Global Transcriptional and Translational Repression in Human-Embryonic-Stem-Cell-Derived Rett Syndrome Neurons

(2013) Yun Li et al.   Cell Stem Cell

Neurodegeneration and Neuroprotection in Diabetic Retinopathy

(2013) Mohammad Ola et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Ablation of the mTORC2 component rictor in brain or Purkinje cells affects size and neuron morphology

(2013) Venus Thomanetz et al.   JOURNAL OF CELL BIOLOGY

A Randomized Double-Blind, Placebo-Controlled Trial of Minocycline in Children and Adolescents with Fragile X Syndrome

(2013) Mary Jacena S. Leigh et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Inactivation of mTORC1 in the Developing Brain Causes Microcephaly and Affects Gliogenesis

(2013) D. Cloetta et al.   JOURNAL OF NEUROSCIENCE

Reduced Adult Hippocampal Neurogenesis and Working Memory Deficits in the Dgcr8-Deficient Mouse Model of 22q11.2 Deletion-Associated Schizophrenia Can Be Rescued by IGF2

(2013) Y. Ouchi et al.   JOURNAL OF NEUROSCIENCE

Neuroanatomical phenotypes in a mouse model of the 22q11.2 microdeletion

(2013) J Ellegood et al.   MOLECULAR PSYCHIATRY

Circuit level defects in the developing neocortex of Fragile X mice

(2013) J Tiago Gonçalves et al.   NATURE NEUROSCIENCE

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

(2013) Emily K. Osterweil et al.   NEURON

Excitatory/Inhibitory Synaptic Imbalance Leads to Hippocampal Hyperexcitability in Mouse Models of Tuberous Sclerosis

(2013) Helen S. Bateup et al.   NEURON

BDNF in fragile X syndrome

(2013) Maija L. Castrén et al.   NEUROPHARMACOLOGY

Gene and protein therapies utilizing VEGF for ALS

(2013) Orion P. Keifer et al.   PHARMACOLOGY & THERAPEUTICS

The role of AUTS2 in neurodevelopment and human evolution

(2013) Nir Oksenberg et al.   TRENDS IN GENETICS

Phosphorylation of DGCR8 Increases Its Intracellular Stability and Induces a Progrowth miRNA Profile

(2013) Kristina M. Herbert et al.   Cell Reports

Local Functional Overconnectivity in Posterior Brain Regions Is Associated with Symptom Severity in Autism Spectrum Disorders

(2013) Christopher Lee Keown et al.   Cell Reports

Brain Hyperconnectivity in Children with Autism and its Links to Social Deficits

(2013) Kaustubh Supekar et al.   Cell Reports

The Pathophysiology of Fragile X (and What It Teaches Us about Synapses)

(2012) Asha L. Bhakar et al.   Annual Review of Neuroscience

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

mTOR Signaling in Growth Control and Disease

(2012) Mathieu Laplante et al.   CELL

The Nogo-66 receptor family in the intact and diseased CNS

(2012) Sarah C. Borrie et al.   CELL AND TISSUE RESEARCH

PTEN signaling in autism spectrum disorders

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

Genetic analysis of AUTS2 as a susceptibility gene of heroin dependence

(2012) Yun-Hsiang Chen et al.   DRUG AND ALCOHOL DEPENDENCE

Reduction of BDNF expression inFmr1knockout mice worsens cognitive deficits but improves hyperactivity and sensorimotor deficits

(2012) M. Uutela et al.   GENES BRAIN AND BEHAVIOR

Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome

(2012) C. A. Hoeffer et al.   GENES BRAIN AND BEHAVIOR

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

(2012) Flore Zufferey et al.   JOURNAL OF MEDICAL GENETICS

Activation of the extracellular signal-regulated kinase pathway contributes to the behavioral deficit of fragile x-syndrome

(2012) Xinglong Wang et al.   JOURNAL OF NEUROCHEMISTRY

Longitudinalin vivodevelopmental changes of metabolites in the hippocampus ofFmr1knockout mice

(2012) Da Shi et al.   JOURNAL OF NEUROCHEMISTRY

Pten Deletion in Adult Hippocampal Neural Stem/Progenitor Cells Causes Cellular Abnormalities and Alters Neurogenesis

(2012) A. Amiri et al.   JOURNAL OF NEUROSCIENCE

Autism-related deficits via dysregulated eIF4E-dependent translational control

(2012) Christos G. Gkogkas et al.   NATURE

Exaggerated translation causes synaptic and behavioural aberrations associated with autism

(2012) Emanuela Santini et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Neurotrophin regulation of neural circuit development and function

(2012) Hyungju Park et al.   NATURE REVIEWS NEUROSCIENCE

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

The trouble with spines in fragile X syndrome: density, maturity and plasticity

(2012) C.X. He et al.   NEUROSCIENCE

Role of pro-brain-derived neurotrophic factor (proBDNF) to mature BDNF conversion in activity-dependent competition at developing neuromuscular synapses

(2012) H. S. Je et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

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

Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex

(2012) Atsushi Sato et al.   Nature Communications

Divergent Roles ofp75NTRand Trk Receptors in BDNF's Effects on Dendritic Spine Density and Morphology

(2012) Christopher A. Chapleau et al.   NEURAL PLASTICITY

Current advances in using neurotrophic factors to treat neurodegenerative disorders

(2012) April M Weissmiller et al.   Translational Neurodegeneration

Fragile X Syndrome: The FMR1 CGG Repeat Distribution Among World Populations

(2011) Emmanuel Peprah   ANNALS OF HUMAN GENETICS

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

(2011) Jennifer C. Darnell et al.   CELL

Underconnected, but How? A Survey of Functional Connectivity MRI Studies in Autism Spectrum Disorders

(2011) Ralph-Axel Müller et al.   CEREBRAL CORTEX

Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression

(2011) Eyal Ben-David et al.   HUMAN MOLECULAR GENETICS

Deletion of ERK1 and ERK2 in the CNS Causes Cortical Abnormalities and Neonatal Lethality: Erk1 Deficiency Enhances the Impairment of Neurogenesis in Erk2-Deficient Mice

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

Neuron and Sensory Epithelial Cell Fate Is Sequentially Determined by Notch Signaling in Zebrafish Lateral Line Development

(2011) T. Mizoguchi et al.   JOURNAL OF NEUROSCIENCE

Evidence for altered hippocampal function in a mouse model of the human 22q11.2 microdeletion

(2011) Liam J. Drew et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

Mutations causing syndromic autism define an axis of synaptic pathophysiology

(2011) Benjamin D. Auerbach et al.   NATURE

Monoallelic deletion of the microRNA biogenesis gene Dgcr8 produces deficits in the development of excitatory synaptic transmission in the prefrontal cortex

(2011) Claude M Schofield et al.   Neural Development

Metabotropic glutamate receptor-dependent long-term depression is impaired due to elevated ERK signaling in the ΔRG mouse model of tuberous sclerosis complex

(2011) Itzamarie Chévere-Torres et al.   NEUROBIOLOGY OF DISEASE

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

Brain connectivity and high functioning autism: A promising path of research that needs refined models, methodological convergence, and stronger behavioral links

(2011) Marlies E. Vissers et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism

(2011) G. Horev et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Adult Neural Function Requires MeCP2

(2011) C. M. McGraw et al.   SCIENCE

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

(2010) Daniel Moreno-De-Luca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TheMECP2duplication syndrome

(2010) Melissa B. Ramocki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

MVP interacts with YPEL4 and inhibits YPEL4-mediated activities of the ERK signal pathway

(2010) Pei Liang et al.   Biochemistry and Cell Biology

Open-label add-on treatment trial of minocycline in fragile X syndrome

(2010) Carlo Paribello et al.   BMC Neurology

MicroRNAs in psychiatric and neurodevelopmental disorders

(2010) Bin Xu et al.   BRAIN RESEARCH

Decreased Interhemispheric Functional Connectivity in Autism

(2010) J. S. Anderson et al.   CEREBRAL CORTEX

Fragile X protein controls neural stem cell proliferation in the Drosophila brain

(2010) M. A. Callan et al.   HUMAN MOLECULAR GENETICS

The 22q11.2 microdeletion: Fifteen years of insights into the genetic and neural complexity of psychiatric disorders

(2010) Liam J. Drew et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Transforming growth factor-β1 induces matrix metalloproteinase-9 and cell migration in astrocytes: roles of ROS-dependent ERK- and JNK-NF-κB pathways

(2010) Hsi-Lung Hsieh et al.   Journal of Neuroinflammation

Dysregulation of mTOR Signaling in Fragile X Syndrome

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

Delayed Stabilization of Dendritic Spines in Fragile X Mice

(2010) A. Cruz-Martin et al.   JOURNAL OF NEUROSCIENCE

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

(2010) R. G. Walters et al.   NATURE

Impaired hippocampal–prefrontal synchrony in a genetic mouse model of schizophrenia

(2010) Torfi Sigurdsson et al.   NATURE

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

(2010) Dalila Pinto et al.   NATURE

mTOR: from growth signal integration to cancer, diabetes and ageing

(2010) Roberto Zoncu et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia

(2010) Maria Karayiorgou et al.   NATURE REVIEWS NEUROSCIENCE

BDNF and TrkB in neuronal differentiation of Fmr1-knockout mouse

(2010) Verna Louhivuori et al.   NEUROBIOLOGY OF DISEASE

Abnormal functional connectivity of default mode sub-networks in autism spectrum disorder patients

(2010) Michal Assaf et al.   NEUROIMAGE

Critical Period Plasticity Is Disrupted in the Barrel Cortex of Fmr1 Knockout Mice

(2010) Emily G. Harlow et al.   NEURON

Dendritic spine instability and insensitivity to modulation by sensory experience in a mouse model of fragile X syndrome

(2010) Feng Pan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches

(2009) Laura Ricceri et al.   BEHAVIOURAL PHARMACOLOGY

Developmentally Regulated Ca2+-Dependent Activator Protein for Secretion 2 (CAPS2) is Involved in BDNF Secretion and is Associated with Autism Susceptibility

(2009) Tetsushi Sadakata et al.   CEREBELLUM

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure

(2009) B Schüle et al.   CLINICAL 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

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi 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

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

(2009) J Elia et al.   MOLECULAR PSYCHIATRY

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

(2009) Joseph T. Glessner et al.   NATURE

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

Molecular mechanisms of mTOR-mediated translational control

(2009) Xiaoju Max Ma et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Brain-derived neurotrophic factor in neurodegenerative diseases

(2009) Chiara Zuccato et al.   Nature Reviews Neurology

MAP'ing CNS Development and Cognition: An ERKsome Process

(2009) Ivy S. Samuels et al.   NEURON

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

(2008) Betul Bakkaloglu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PTEN and the PI3-Kinase Pathway in Cancer

(2008) Nader Chalhoub et al.   Annual Review of Pathology-Mechanisms of Disease

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

(2008) Dorien Lugtenberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rett Syndrome: From the Gene to the Disease

(2008) Tanja Matijevic et al.   EUROPEAN NEUROLOGY

Tuberous sclerosis complex proteins control axon formation

(2008) Y.-J. Choi et al.   GENES & DEVELOPMENT

Imbalance of Neocortical Excitation and Inhibition and Altered UP States Reflect Network Hyperexcitability in the Mouse Model of Fragile X Syndrome

(2008) Jay R. Gibson et al.   JOURNAL OF NEUROPHYSIOLOGY

Deletion of ERK2 Mitogen-Activated Protein Kinase Identifies Its Key Roles in Cortical Neurogenesis and Cognitive Function

(2008) I. S. Samuels et al.   JOURNAL OF NEUROSCIENCE

Tuberous sclerosis

(2008) Paolo Curatolo et al.   LANCET

mGluR-Dependent Long-Term Depression Is Associated with Increased Phosphorylation of S6 and Synthesis of Elongation Factor 1A but Remains Expressed in S6K-Deficient Mice

(2008) M. D. Antion et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2008) Dan Ehninger et al.   NATURE MEDICINE

Palmitoylation-dependent neurodevelopmental deficits in a mouse model of 22q11 microdeletion

(2008) Jun Mukai et al.   NATURE NEUROSCIENCE

Advances in autism genetics: on the threshold of a new neurobiology

(2008) Brett S. Abrahams et al.   NATURE REVIEWS GENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

PI3K pathway alterations in cancer: variations on a theme

(2008) T L Yuan et al.   ONCOGENE

Characterization of Autism in Young Children With Tuberous Sclerosis Complex

(2007) Shafali S. Jeste et al.   JOURNAL OF CHILD NEUROLOGY

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