Perturbed proteostasis in autism spectrum disorders

SYNGAP1: Mind the Gap

(2016) Nallathambi Jeyabalan et al.   Frontiers in Cellular Neuroscience

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

(2015) Julien Thevenon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Common Regulatory Variants ofCYFIP1Contribute to Susceptibility for Autism Spectrum Disorder (ASD) and Classical Autism

(2015) Jian Wang et al.   ANNALS OF HUMAN GENETICS

Impairment of social behavior and communication in mice lacking the Uba6-dependent ubiquitin activation system

(2015) Ji Yeon Lee et al.   BEHAVIOURAL BRAIN RESEARCH

An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A

(2015) Jason J. Yi et al.   CELL

Ubiquitin-Proteasome System Inhibition Promotes Long-Term Depression and Synaptic Tagging/Capture

(2015) Qin Li et al.   CEREBRAL CORTEX

The deubiquitinating enzyme USP46 regulates AMPA receptor ubiquitination and trafficking

(2015) Yuda Huo et al.   JOURNAL OF NEUROCHEMISTRY

Convergence of Hippocampal Pathophysiology in Syngap+/- and Fmr1-/y Mice

(2015) S. A. Barnes et al.   JOURNAL OF NEUROSCIENCE

Imbalanced Mechanistic Target of Rapamycin C1 and C2 Activity in the Cerebellum of Angelman Syndrome Mice Impairs Motor Function

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

Differential Role of the Proteasome in the Early and Late Phases of BDNF-Induced Facilitation of LTP

(2015) A. R. Santos et al.   JOURNAL OF NEUROSCIENCE

GluN2B-Containing NMDA Receptors Regulate AMPA Receptor Traffic through Anchoring of the Synaptic Proteasome

(2015) J. S. Ferreira et al.   JOURNAL OF NEUROSCIENCE

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

Two waves of proteasome-dependent protein degradation in the hippocampus are required for recognition memory consolidation

(2015) Luciana S. Figueiredo et al.   NEUROBIOLOGY OF LEARNING AND MEMORY

A Cdh1-APC/FMRP Ubiquitin Signaling Link Drives mGluR-Dependent Synaptic Plasticity in the Mammalian Brain

(2015) Ju Huang et al.   NEURON

Seizure-like activity in a juvenile Angelman syndrome mouse model is attenuated by reducingArcexpression

(2015) Caleigh Mandel-Brehm 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

Activity-Dependent Ubiquitination of GluA1 and GluA2 Regulates AMPA Receptor Intracellular Sorting and Degradation

(2015) Jocelyn Widagdo et al.   Cell Reports

Coordination between Translation and Degradation Regulates Inducibility of mGluR-LTD

(2015) Matthew E. Klein et al.   Cell Reports

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

(2015) Marta Codina-Solà et al.   Molecular Autism

Behavioral Profile in RASopathies

(2014) Paolo Alfieri et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Behavioral phenotype in Costello syndrome with atypical mutation: A case report

(2014) Paolo Alfieri et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

De novo EEF1A2mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

(2014) J. Nakajima et al.   CLINICAL GENETICS

A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans

(2014) S. S. Brooks et al.   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

Synaptic Strength Is Bidirectionally Controlled by Opposing Activity-Dependent Regulation of Nedd4-1 and USP8

(2014) S. L. Scudder et al.   JOURNAL OF NEUROSCIENCE

Proteasome Modulates Positive and Negative Translational Regulators in Long-Term Synaptic Plasticity

(2014) C. Dong et al.   JOURNAL OF NEUROSCIENCE

Autoregulation of the 26S proteasome by in situ ubiquitination

(2014) Andrew D. Jacobson et al.   MOLECULAR BIOLOGY OF THE CELL

Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome

(2014) Yong-Seok Lee et al.   NATURE NEUROSCIENCE

Triad3A Regulates Synaptic Strength by Ubiquitination of Arc

(2014) Angela M. Mabb et al.   NEURON

Protein degradation and protein synthesis in long-term memory formation

(2014) Timothy J. Jarome et al.   Frontiers in Molecular Neuroscience

The ubiquitin-proteasome system in neurodegenerative diseases: precipitating factor, yet part of the solution

(2014) Nico P. Dantuma et al.   Frontiers in Molecular Neuroscience

Mechanisms of Generating Polyubiquitin Chains of Different Topology

(2014) Randy Suryadinata et al.   Cells

Regulation of proteasome activity in health and disease

(2013) Marion Schmidt et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities

(2013) Ayumi Matsumoto et al.   JOURNAL OF HUMAN GENETICS

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

(2013) Elisabetta Flex et al.   JOURNAL OF MEDICAL GENETICS

Altered Social Behavior and Neuronal Development in Mice Lacking the Uba6-Use1 Ubiquitin Transfer System

(2013) Peter C.W. Lee et al.   MOLECULAR CELL

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

(2013) Jennifer C Darnell et al.   NATURE NEUROSCIENCE

Proteostasis in complex dendrites

(2013) Cyril Hanus et al.   NATURE REVIEWS NEUROSCIENCE

Ubiquitin Ligase HUWE1 Regulates Axon Branching through the Wnt/β-Catenin Pathway in a Drosophila Model for Intellectual Disability

(2013) Joke Vandewalle et al.   PLoS One

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

Ubiquitination of Neurotransmitter Receptors and Postsynaptic Scaffolding Proteins

(2013) Amy W. Lin et al.   NEURAL PLASTICITY

Breaking It Down: The Ubiquitin Proteasome System in Neuronal Morphogenesis

(2013) Andrew M. Hamilton et al.   NEURAL PLASTICITY

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

(2012) Lina Basel-Vanagaite et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

(2012) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorder

(2012) Erik G. Puffenberger et al.   HUMAN MUTATION

Mutation of HERC2 causes developmental delay with Angelman-like features

(2012) Gaurav V Harlalka et al.   JOURNAL OF MEDICAL GENETICS

Proteasomal degradation of the metabotropic glutamate receptor 1α is mediated by Homer-3 via the proteasomal S8 ATPase

(2012) Khosrow Rezvani et al.   JOURNAL OF NEUROCHEMISTRY

Synaptic Protein Ubiquitination in Rat Brain Revealed by Antibody-based Ubiquitome Analysis

(2012) Chan Hyun Na et al.   JOURNAL OF PROTEOME RESEARCH

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

Activity-Dependent Growth of New Dendritic Spines Is Regulated by the Proteasome

(2012) Andrew M. Hamilton et al.   NEURON

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

High-Throughput Sequencing of mGluR Signaling Pathway Genes Reveals Enrichment of Rare Variants in Autism

(2012) Raymond J. Kelleher III et al.   PLoS One

Haploinsufficiency of Cyfip1 Produces Fragile X-Like Phenotypes in Mice

(2012) Ozlem Bozdagi et al.   PLoS One

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

(2012) Maria H. Chahrour et al.   PLoS Genetics

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

(2012) C Nava et al.   Translational Psychiatry

Neuralized1 Activates CPEB3: A Function for Nonproteolytic Ubiquitin in Synaptic Plasticity and Memory Storage

(2011) Elias Pavlopoulos et al.   CELL

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

(2011) H. S. Bateup 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

Mutations causing syndromic autism define an axis of synaptic pathophysiology

(2011) Benjamin D. Auerbach et al.   NATURE

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

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

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

Deconstruction for Reconstruction: The Role of Proteolysis in Neural Plasticity and Disease

(2011) Baris Bingol 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

Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk

(2011) Daria Salyakina et al.   PLoS One

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

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

(2011) Angela M. Mabb et al.   TRENDS IN NEUROSCIENCES

The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc

(2010) Paul L. Greer et al.   CELL

Autophosphorylated CaMKIIα Acts as a Scaffold to Recruit Proteasomes to Dendritic Spines

(2010) Baris Bingol et al.   CELL

The Coffin-Lowry Syndrome-Associated Protein rsk2 and Neurosecretion

(2010) M. Zeniou-Meyer et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

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

Activity-Dependent Ubiquitination of GluA1 Mediates a Distinct AMPA Receptor Endocytosis and Sorting Pathway

(2010) L. A. Schwarz et al.   JOURNAL OF NEUROSCIENCE

The ubiquitin-proteasome pathway and synaptic plasticity

(2010) A. N. Hegde   LEARNING & MEMORY

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

(2010) A Piton et al.   MOLECULAR PSYCHIATRY

APCCdh1 mediates EphA4-dependent downregulation of AMPA receptors in homeostatic plasticity

(2010) Amy K Y Fu et al.   NATURE NEUROSCIENCE

N-methyl-d-aspartate receptor- and metabotropic glutamate receptor-dependent long-term depression are differentially regulated by the ubiquitin-proteasome system

(2009) Ami Citri et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Regulation of the Proteasome by Neuronal Activity and Calcium/Calmodulin-dependent Protein Kinase II

(2009) Stevan N. Djakovic et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deregulation of EIF4E: a novel mechanism for autism

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

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

(2009) Joseph T. Glessner et al.   NATURE

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

(2008) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL

E3 ubiquitin ligase E6AP-mediated TSC2 turnover in the presence and absence of HPV16 E6

(2008) Li Zheng et al.   GENES TO CELLS

Proteasome inhibition enhances the induction and impairs the maintenance of late-phase long-term potentiation

(2008) C. Dong et al.   LEARNING & MEMORY

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

(2008) Dan Ehninger et al.   NATURE MEDICINE

Synaptic Protein Degradation Underlies Destabilization of Retrieved Fear Memory

(2008) S.-H. Lee et al.   SCIENCE

Oncogenes on my mind: ERK and MTOR signaling in cognitive diseases

(2008) Lianne C. Krab et al.   TRENDS IN GENETICS