The Potential Role of AMPA Receptor Trafficking in Autism and Other Neurodevelopmental Conditions

Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice

(2021) Marta Prieto et al.   Nature Communications

Tomosyn regulates the small RhoA GTPase to control the dendritic stability of neurons and the surface expression of AMPA receptors

(2020) Wenjuan Shen et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Two Autism/Dyslexia Linked Variations of DOCK4 Disrupt the Gene Function on Rac1/Rap1 Activation, Neurite Outgrowth, and Synapse Development

(2020) Miaoqi Huang et al.   Frontiers in Cellular Neuroscience

A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y

(2020) Thien A. Nguyen et al.   NEURON

An Autism-Associated Mutation Impairs Neuroligin-4 Glycosylation and Enhances Excitatory Synaptic Transmission in Human Neurons

(2020) Thomas P. Cast et al.   JOURNAL OF NEUROSCIENCE

Specific Neuroligin3–αNeurexin1 signaling regulates GABAergic synaptic function in mouse hippocampus

(2020) Motokazu Uchigashima et al.   eLife

An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors

(2019) Eli J. Rogers et al.   Frontiers in Molecular Neuroscience

Hyperexcitability of the local cortical circuit in mouse models of tuberous sclerosis complex

(2019) Jian-Ping Zhao et al.   Molecular Brain

Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis

(2019) Min Li et al.   Orphanet Journal of Rare Diseases

Neuroligin-1 Signaling Controls LTP and NMDA Receptors by Distinct Molecular Pathways

(2019) Xiaoting Wu et al.   NEURON

PSD-95 binding dynamically regulates NLGN1 trafficking and function

(2019) Jaehoon Jeong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuroligin-4 Regulates Excitatory Synaptic Transmission in Human Neurons

(2019) Samuele G. Marro et al.   NEURON

Replication of previous GWAS hits suggests the association between rs4307059 near MSNP1AS and autism in a Chinese Han population

(2019) Ziqi Wang et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

(2019) Vincenzo Salpietro et al.   Nature Communications

Assessment of Psychopathological Comorbidities in Children and Adolescents With Autism Spectrum Disorder Using the Child Behavior Checklist

(2019) Silvia Guerrera et al.   Frontiers in Psychiatry

Autism-like social deficit generated by Dock4 deficiency is rescued by restoration of Rac1 activity and NMDA receptor function

(2019) Daji Guo et al.   MOLECULAR PSYCHIATRY

AMPA receptors in the synapse turnover by monomer diffusion

(2019) Jyoji Morise et al.   Nature Communications

Tsc1 represses parvalbumin expression and fast-spiking properties in somatostatin lineage cortical interneurons

(2019) Ruchi Malik et al.   Nature Communications

Autism-associated neuroligin-4 mutation selectively impairs glycinergic synaptic transmission in mouse brainstem synapses

(2018) Bo Zhang et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Pharmacological modulation of AMPA receptor rescues social impairments in animal models of autism

(2018) Ji-Woon Kim et al.   NEUROPSYCHOPHARMACOLOGY

Functional changes of AMPA responses in human induced pluripotent stem cell–derived neural progenitors in fragile X syndrome

(2018) Venkat Swaroop Achuta et al.   Science Signaling

Tomosyn functions as a PKCδ-regulated fusion clamp in mast cell degranulation

(2018) Iris K. Madera-Salcedo et al.   Science Signaling

Functional changes of AMPA responses in human induced pluripotent stem cell–derived neural progenitors in fragile X syndrome

(2018) Venkat Swaroop Achuta et al.   Science Signaling

Tomosyn functions as a PKCδ-regulated fusion clamp in mast cell degranulation

(2018) Iris K. Madera-Salcedo et al.   Science Signaling

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

(2018) Cyril Mignot et al.   GENETICS IN MEDICINE

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

The fragile X mutation impairs homeostatic plasticity in human neurons by blocking synaptic retinoic acid signaling

(2018) Zhenjie Zhang et al.   Science Translational Medicine

Widespread RNA editing dysregulation in brains from autistic individuals

(2018) Stephen S. Tran et al.   NATURE NEUROSCIENCE

The calcium sensor synaptotagmin 1 is expressed and regulated in hippocampal postsynaptic spines

(2017) Suleman Hussain et al.   HIPPOCAMPUS

The ubiquitin-proteasome system functionally links neuronal Tomosyn-1 to dendritic morphology

(2017) Johnny J. Saldate et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

D-Cycloserine Ameliorates Autism-Like Deficits by Removing GluA2-Containing AMPA Receptors in a Valproic Acid-Induced Rat Model

(2017) Han-Fang Wu et al.   MOLECULAR NEUROBIOLOGY

Postsynaptic synaptotagmins mediate AMPA receptor exocytosis during LTP

(2017) Dick Wu et al.   NATURE

Hippocampal LTP and contextual learning require surface diffusion of AMPA receptors

(2017) A. C. Penn et al.   NATURE

Neuroligin 3 R451C mutation alters electroencephalography spectral activity in an animal model of autism spectrum disorders

(2017) Jackie J. Liu et al.   Molecular Brain

Functional significance of rare neuroligin 1 variants found in autism

(2017) Moe Nakanishi et al.   PLoS Genetics

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

(2017)   Molecular Autism

Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis

(2017) S J Hinze et al.   Translational Psychiatry

Multiple Behavior Phenotypes of the Fragile-X Syndrome Mouse Model Respond to Chronic Inhibition of Phosphodiesterase-4D (PDE4D)

(2017) Mark E. Gurney et al.   Scientific Reports

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity

(2016) Daniel J. Parente et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Lack of replication of previous autism spectrum disorder GWAS hits in European populations

(2016) Bàrbara Torrico et al.   Autism Research

The molecular and phenotypic spectrum ofIQSEC2-related epilepsy

(2016) Ayelet Zerem et al.   EPILEPSIA

GluA4 subunit of AMPA receptors mediates the early synaptic response to altered network activity in the developing hippocampus

(2016) J. Huupponen et al.   JOURNAL OF NEUROPHYSIOLOGY

Developmental plasticity shapes synaptic phenotypes of autism-associated neuroligin-3 mutations in the calyx of Held

(2016) B Zhang et al.   MOLECULAR PSYCHIATRY

NMDA Receptor-Dependent LTD Requires Transient Synaptic Incorporation of Ca 2+ -Permeable AMPARs Mediated by AKAP150-Anchored PKA and Calcineurin

(2016) Jennifer L. Sanderson 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

A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons

(2016) Yu-Chih Lin et al.   Frontiers in Cellular Neuroscience

Stargazin Modulation of AMPA Receptors

(2016) Sana A. Shaikh et al.   Cell Reports

Arf6 regulates the cycling and the readily releasable pool of synaptic vesicles at hippocampal synapse

(2016) Erica Tagliatti et al.   eLife

PDE-4 Inhibition Rescues Aberrant Synaptic Plasticity in Drosophila and Mouse Models of Fragile X Syndrome

(2015) C. H. Choi et al.   JOURNAL OF NEUROSCIENCE

Persistent Pain Maintains Morphine-Seeking Behavior after Morphine Withdrawal through Reduced MeCP2 Repression of Glua1 in Rat Central Amygdala

(2015) Y.-Y. Hou et al.   JOURNAL OF NEUROSCIENCE

The Roles of Genes in the Neuronal Migration and Neurite Outgrowth Network in Developmental Dyslexia: Single- and Multiple-Risk Genetic Variants

(2015) Shanshan Shao et al.   MOLECULAR NEUROBIOLOGY

Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders

(2015) Sacha B. Nelson et al.   NEURON

Postsynaptic VAMP/Synaptobrevin Facilitates Differential Vesicle Trafficking of GluA1 and GluA2 AMPA Receptor Subunits

(2015) Suleman Hussain et al.   PLoS One

GluA2 is rapidly edited at the Q/R site during neural differentiation in vitro

(2015) Svenja Pachernegg et al.   Frontiers in Cellular Neuroscience

The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition

(2015) Maria Lidia Mignogna et al.   Nature Communications

Synaptic activity regulates AMPA receptor trafficking through different recycling pathways

(2015) Ning Zheng et al.   eLife

Molecular Mechanisms Regulating the Defects in Fragile X Syndrome Neurons Derived from Human Pluripotent Stem Cells

(2015) Tomer Halevy et al.   Stem Cell Reports

Exploring the Validity of Valproic Acid Animal Model of Autism

(2015) Darine Froy N. Mabunga et al.   Experimental Neurobiology

Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences

(2014) Joshua A. Suhl et al.   HUMAN MOLECULAR GENETICS

Regional Diversity and Developmental Dynamics of the AMPA-Receptor Proteome in the Mammalian Brain

(2014) Jochen Schwenk et al.   NEURON

The dendritic SNARE fusion machinery involved in AMPARs insertion during long-term potentiation

(2014) Sandra Jurado   Frontiers in Cellular Neuroscience

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

(2014) Holly N Cukier et al.   Molecular Autism

The Atypical Guanine Nucleotide Exchange Factor Dock4 Regulates Neurite Differentiation through Modulation of Rac1 GTPase and Actin Dynamics

(2013) Yangui Xiao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

LTP Requires a Unique Postsynaptic SNARE Fusion Machinery

(2013) Sandra Jurado et al.   NEURON

In utero exposure to valproic acid and autism — A current review of clinical and animal studies

(2013) Florence I. Roullet et al.   NEUROTOXICOLOGY AND TERATOLOGY

Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

(2013) Nori Matsunami et al.   PLoS One

Neurexin-1β Binding to Neuroligin-1 Triggers the Preferential Recruitment of PSD-95 versus Gephyrin through Tyrosine Phosphorylation of Neuroligin-1

(2013) Grégory Giannone et al.   Cell Reports

Homodimerization and isoform-specific heterodimerization of neuroligins

(2012) Alexandros Poulopoulos et al.   BIOCHEMICAL JOURNAL

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

DSCR1 interacts with FMRP and is required for spine morphogenesis and local protein synthesis

(2012) Wei Wang et al.   EMBO JOURNAL

Craniofacial characteristics of fragile X syndrome in mouse and man

(2012) Inge Heulens et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Arf6-GEF BRAG1 Regulates JNK-Mediated Synaptic Removal of GluA1-Containing AMPA Receptors: A New Mechanism for Nonsyndromic X-Linked Mental Disorder

(2012) K. R. Myers et al.   JOURNAL OF NEUROSCIENCE

The Rett Syndrome Protein MeCP2 Regulates Synaptic Scaling

(2012) Z. Qiu et al.   JOURNAL OF NEUROSCIENCE

Neuroligin-1 Loss Is Associated with Reduced Tenacity of Excitatory Synapses

(2012) Adel Zeidan et al.   PLoS One

Dimerization of postsynaptic neuroligin drives synaptic assembly via transsynaptic clustering of neurexin

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

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

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

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

Neurexin-Neuroligin Adhesions Capture Surface-Diffusing AMPA Receptors through PSD-95 Scaffolds

(2011) M. Mondin et al.   JOURNAL OF NEUROSCIENCE

In vivotwo-photon uncaging of glutamate revealing the structure-function relationships of dendritic spines in the neocortex of adult mice

(2011) Jun Noguchi et al.   JOURNAL OF PHYSIOLOGY-LONDON

Dopamine-Regulated MicroRNA MiR-181a Controls GluA2 Surface Expression in Hippocampal Neurons

(2011) R. Saba et al.   MOLECULAR AND CELLULAR BIOLOGY

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

A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

(2011) John P Hussman et al.   Molecular Autism

Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia

(2010) Alistair T. Pagnamenta et al.   BIOLOGICAL PSYCHIATRY

Syntaxin-4 Defines a Domain for Activity-Dependent Exocytosis in Dendritic Spines

(2010) Matthew J. Kennedy et al.   CELL

TARPs γ-2 and γ-7 are essential for AMPA receptor expression in the cerebellum

(2010) Maya Yamazaki et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

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

Tomosyn Inhibits Synaptotagmin-1-mediated Step of Ca2+-dependent Neurotransmitter Release through Its N-terminal WD40 Repeats

(2010) Yasunori Yamamoto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

CaMKII Triggers the Diffusional Trapping of Surface AMPARs through Phosphorylation of Stargazin

(2010) Patricio Opazo et al.   NEURON

AMPA receptors are exocytosed in stimulated spines and adjacent dendrites in a Ras-ERK-dependent manner during long-term potentiation

(2010) M. A. Patterson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel copy number variants in children with autism and additional developmental anomalies

(2009) L. K. Davis et al.   Journal of Neurodevelopmental Disorders

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

(2009) E Maestrini et al.   MOLECULAR PSYCHIATRY

Neuroligin 2 Drives Postsynaptic Assembly at Perisomatic Inhibitory Synapses through Gephyrin and Collybistin

(2009) Alexandros Poulopoulos et al.   NEURON

AMPA Receptor Incorporation into Synapses during LTP: The Role of Lateral Movement and Exocytosis

(2009) Hiroshi Makino et al.   NEURON

Analysis of the neuroligin 4Y gene in patients with autism

(2009) Jin Yan et al.   PSYCHIATRIC GENETICS

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers

(2008) Delia M. Talos et al.   ANNALS OF NEUROLOGY

Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex

(2008) Ling-Hui Zeng et al.   ANNALS OF NEUROLOGY

Familial deletion within NLGN4 associated with autism and Tourette syndrome

(2008) Amy Lawson-Yuen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Dock4 regulates dendritic development in hippocampal neurons

(2008) Shuhei Ueda et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Immunohistochemical localization of a ubiquitin ligase HRD1 in murine brain

(2008) Tomohiro Omura et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Delivery of AMPA receptors to perisynaptic sites precedes the full expression of long-term potentiation

(2008) Y. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Unusually rapid evolution of Neuroligin-4 in mice

(2008) M. F. Bolliger et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Activity-independent and subunit-specific recruitment of functional AMPA receptors at neurexin/neuroligin contacts

(2008) M. Heine et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gender-specific behavioral and immunological alterations in an animal model of autism induced by prenatal exposure to valproic acid

(2008) Tomasz Schneider et al.   PSYCHONEUROENDOCRINOLOGY

Surface Mobility of Postsynaptic AMPARs Tunes Synaptic Transmission

(2008) M. Heine et al.   SCIENCE

Munc-18-1 Regulates the Initial Release Rate of Exocytosis

(2007) Jeff W. Barclay   BIOPHYSICAL JOURNAL