From UBE3A to Angelman syndrome: a substrate perspective

15q11.2 Duplication Encompassing Only theUBE3AGene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes

(2015) Abdul Noor et al.   HUMAN MUTATION

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model

(2015) Sara Silva-Santos et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Angelman Syndrome

(2015) Seth S. Margolis et al.   Neurotherapeutics

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

If not Angelman, what is it? a review of Angelman-like syndromes

(2014) Wen-Hann Tan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model

(2014) I. Filonova et al.   LEARNING & MEMORY

Integrated systems analysis reveals a molecular network underlying autism spectrum disorders

(2014) J. Li et al.   Molecular Systems Biology

Towards a therapy for Angelman syndrome by targeting a long non-coding RNA

(2014) Linyan Meng et al.   NATURE

Triad3A Regulates Synaptic Strength by Ubiquitination of Arc

(2014) Angela M. Mabb et al.   NEURON

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

(2014) Catarina T Correia et al.   Molecular Autism

Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder

(2013) Jernej Kovač et al.   Autism Research

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Angelman syndrome caused by deletion: A genotype–phenotype correlation determined by breakpoint

(2013) Kette D. Valente et al.   EPILEPSY RESEARCH

Deficiency of the Cyclin-Dependent Kinase Inhibitor, CDKN1B, Results in Overgrowth and Neurodevelopmental Delay

(2013) William Grey et al.   HUMAN MUTATION

Allelic specificity of Ube3a Expression In The Mouse Brain During Postnatal Development

(2013) Matthew C. Judson et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Proteomic Profiling in Drosophila Reveals Potential Dube3a Regulation of the Actin Cytoskeleton and Neuronal Homeostasis

(2013) Laura Jensen et al.   PLoS One

Knockdown of Human TCF4 Affects Multiple Signaling Pathways Involved in Cell Survival, Epithelial to Mesenchymal Transition and Neuronal Differentiation

(2013) Marc P. Forrest 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

R-loop formation atSnord116mediates topotecan inhibition ofUbe3a-antisenseand allele-specific chromatin decondensation

(2013) Weston T. Powell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Reduction of the α1 Subunit of Na/K-ATPase Corrects Multiple Hippocampal Phenotypes in Angelman Syndrome

(2013) Hanoch Kaphzan et al.   Cell Reports

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

E6-AP association promotes SOD1 aggresomes degradation and suppresses toxicity

(2012) Amit Mishra et al.   NEUROBIOLOGY OF AGING

Decreased Tonic Inhibition in Cerebellar Granule Cells Causes Motor Dysfunction in a Mouse Model of Angelman Syndrome

(2012) K. Egawa et al.   Science Translational Medicine

Physical and Functional Interaction of the HECT Ubiquitin-protein Ligases E6AP and HERC2

(2011) Simone Kühnle et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Alterations in Intrinsic Membrane Properties and the Axon Initial Segment in a Mouse Model of Angelman Syndrome

(2011) H. Kaphzan et al.   JOURNAL OF NEUROSCIENCE

Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons

(2011) Hsien-Sung Huang et al.   NATURE

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

EphB-Mediated Degradation of the RhoA GEF Ephexin5 Relieves a Developmental Brake on Excitatory Synapse Formation

(2010) Seth S. Margolis et al.   CELL

The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc

(2010) Paul L. Greer et al.   CELL

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

(2010) Jennifer K. Gentile et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome

(2010) Richard M. Gustin et al.   NEUROBIOLOGY OF DISEASE

Dramatic loss of Ube3A expression during aging of the mammalian cortex

(2010) Kate Williams   Frontiers in Aging Neuroscience

Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome

(2009) B. Chakrabarti et al.   Autism Research

Identification of annexin A1 as a novel substrate for E6AP-mediated ubiquitylation

(2009) Tetsu Shimoji et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

UBE3A/E6-AP regulates cell proliferation by promoting proteasomal degradation of p27

(2009) Amit Mishra et al.   NEUROBIOLOGY OF DISEASE

Possible association between the androgen receptor gene and autism spectrum disorder

(2009) Susanne Henningsson et al.   PSYCHONEUROENDOCRINOLOGY

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

(2008) Li Zheng et al.   GENES TO CELLS

Elongation Factor 2 and Fragile X Mental Retardation Protein Control the Dynamic Translation of Arc/Arg3.1 Essential for mGluR-LTD

(2008) Sungjin Park et al.   NEURON

Phosphorylation of Activation Function-1 Regulates Proteasome-Dependent Nuclear Mobility and E6-Associated Protein Ubiquitin Ligase Recruitment to the Estrogen Receptor β

(2007) Nathalie Picard et al.   MOLECULAR ENDOCRINOLOGY