Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

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De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

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Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation

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Synaptic activation causes the mRNA for the IEG Arc to localize selectively near activated postsynaptic sites on dendrites.

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Arc/Arg3.1 Is Essential for the Consolidation of Synaptic Plasticity and Memories

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Arc/Arg3.1 interacts with the endocytic machinery to regulate AMPA receptor trafficking

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Arc/Arg3.1 Mediates Homeostatic Synaptic Scaling of AMPA Receptors

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Regulatory roles of natural antisense transcripts

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Angelman syndrome: a review of the clinical and genetic aspects

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Untitled work

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Angelman syndrome 2005: Updated consensus for diagnostic criteria

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Genome Organization, Function, and Imprinting in Prader-Willi and Angelman Syndromes

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Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization

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High-Resolution Analysis of Parent-of-Origin Allelic Expression in the Mouse Brain

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Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons

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Cloning and Expression of the cDNA for E6-AP, a Protein that Mediates the Interaction of the Human Papillomavirus E6 Oncoprotein with p53

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Rapid Translation of Arc/Arg3.1 Selectively Mediates mGluR-Dependent LTD through Persistent Increases in AMPAR Endocytosis Rate

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ETS Gene Er81 Controls the Formation of Functional Connections between Group Ia Sensory Afferents and Motor Neurons

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Mice Lacking the β3Subunit of the GABAAReceptor Have the Epilepsy Phenotype and Many of the Behavioral Characteristics of Angelman Syndrome

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The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology

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Localization of the E6-AP Regions That Direct Human Papillomavirus E6 Binding, Association with p53, and Ubiquitination of Associated Proteins

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The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

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p27 kip1 independently promotes neuronal differentiation and migration in the cerebral cortexPreprint

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Distinct phenotypes distinguish the molecular classes of Angelman syndrome

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Sex-Specific Parent-of-Origin Allelic Expression in the Mouse Brain

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Clinical and genetic aspects of Angelman syndrome

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Ube3a is required for experience-dependent maturation of the neocortex

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Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes

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An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript

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Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation

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Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a

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Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome

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Mass Spectrometric Characterization of the Affinity-Purified Human 26S Proteasome Complex

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EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation

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Neurobehavioral and Electroencephalographic Abnormalities in Ube3aMaternal-Deficient Mice

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Autism in Angelman syndrome: a population-based study

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Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations

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Identification of HHR23A as a Substrate for E6-associated Protein-mediated Ubiquitination

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The Prader–Willi Syndrome Imprinting Center Activates the Paternally Expressed Murine Ube3a Antisense Transcript but Represses Paternal Ube3a

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Autism in Angelman syndrome: implications for autism research

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Angelman syndrome: Correlations between epilepsy phenotypes and genotypes

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Identifying Dynamic Interactors of Protein Complexes by Quantitative Mass Spectrometry

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Isolation of Mammalian 26S Proteasomes and p97/VCP Complexes Using the Ubiquitin-like Domain from HHR23B Reveals Novel Proteasome-Associated Proteins

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Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3

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Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a

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Molecular epigenetics of Angelman syndrome

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Regulation of the large ( 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn

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Clarke's column neurons as the focus of a corticospinal corollary circuit

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Autism in Angelman Syndrome

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Characterization of the brain 26S proteasome and its interacting proteins

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Epilepsy in Angelman syndrome

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Epigenetics of imprinted long non-coding RNAs

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The ubiquitin‐protein ligase E6‐associated protein (E6‐AP) serves as its own substrate

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The HumanE6-APGene (UBE3A) Encodes Three Potential Protein Isoforms Generated by Differential Splicing

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Human Papillomavirus Type 16 E6 Induces Self-Ubiquitination of the E6AP Ubiquitin-Protein Ligase

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Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors

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Imprinting in Angelman and Prader-Willi syndromes

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A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes

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The E6–AP Ubiquitin–Protein Ligase (UBE3A) Gene Is Localized within a Narrowed Angelman Syndrome Critical RegionPreprint

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Sleep disturbances in Angelman syndrome: a questionnaire study

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EphA4-Mediated Rho Activation via Vsm-RhoGEF Expressed Specifically in Vascular Smooth Muscle Cells

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Puppet‐like syndrome of Angelman: A pathologic and neurochemical study

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Biochemical Analysis of Angelman Syndrome-associated Mutations in the E3 Ubiquitin Ligase E6-associated Protein

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

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Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase

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The "happy puppet" syndrome.

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Parent-Specific Complementary Patterns of Histone H3 Lysine 9 and H3 Lysine 4 Methylation at the Prader-Willi Syndrome Imprinting Center

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Fast cerebellar oscillation associated with ataxia in a mouse model of angelman syndrome

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The imprinting mechanism of the Prader–Willi/Angelman regional control center

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E6-AP Promotes Misfolded Polyglutamine Proteins for Proteasomal Degradation and Suppresses Polyglutamine Protein Aggregation and Toxicity

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P-Element Insertion Alleles of Essential Genes on the Third Chromosome of Drosophila melanogaster: Mutations Affecting Embryonic PNS Development

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Sleep polygraphy in Angelman syndrome

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

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A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects

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Sleep disturbances in Ube3a maternal-deficient mice modeling Angelman syndrome

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Parent-of-Origin Specific Histone Acetylation and Reactivation of a Key Imprinted Gene Locus in Prader-Willi Syndrome

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Thalamic activity that drives visual cortical plasticity

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Long nuclear-retained non-coding RNAs and allele-specific higher-order chromatin organization at imprinted snoRNA gene arrays

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Characteristics of two cases with dup(15) (q 11.2-q 12): one of maternal and one of paternal origin

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Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size

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Loss of dopaminergic neurons and resulting behavioural deficits in mouse model of Angelman syndrome

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CIM6P / IGF ‐2 Receptor Ligands Reverse Deficits in Angelman Syndrome Model Mice

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Molecular aspects of Angelman Syndrome: Defining the new path forward

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Angelman Syndrome

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UBE3A and the Angelman Syndrome

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