scholarly article | Q13442814 |
P50 | author | Urs Albrecht | Q30380489 |
James S. Sutcliffe | Q37651326 | ||
P2093 | author name string | A L Beaudet | |
G Eichele | |||
D Armstrong | |||
B M Cattanach | |||
C V Beechey | |||
P2860 | cites work | UBE3A/E6-AP mutations cause Angelman syndrome | Q24311799 |
Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase | Q24321516 | ||
Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade | Q29620459 | ||
Uniparental paternal disomy in Angelman's syndrome | Q33244469 | ||
Is Angelman syndrome an alternate result of del(15)(q11q13)? | Q34187549 | ||
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. | Q34314269 | ||
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region | Q34428426 | ||
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion | Q34461093 | ||
Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53. | Q36660357 | ||
Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). | Q36731355 | ||
Angelman syndrome | Q40923007 | ||
Puppet-like syndrome of Angelman: a pathologic and neurochemical study | Q41930929 | ||
Promoter-specific imprinting of the human insulin-like growth factor-II gene | Q46095293 | ||
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome | Q48056435 | ||
Angelman's syndrome: a neuropathological study | Q48556801 | ||
A candidate model for Angelman syndrome in the mouse | Q48678528 | ||
Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. | Q51169317 | ||
Parental imprinting of the mouse insulin-like growth factor II gene. | Q55052428 | ||
Cytogenetic and molecular analysis in Angelman syndrome | Q72219024 | ||
P433 | issue | 1 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Purkinje cell | Q1570272 |
Angelman syndrome | Q535364 | ||
P304 | page(s) | 75-78 | |
P577 | publication date | 1997-09-01 | |
P1433 | published in | Nature Genetics | Q976454 |
P1476 | title | Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons | |
P478 | volume | 17 |
Q24683678 | 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders |
Q48224906 | 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes |
Q50329951 | A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders |
Q36858585 | A Drosophila model for Angelman syndrome |
Q34383677 | A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations |
Q28079929 | A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons. |
Q34603155 | A fine balance: Regulation of hippocampal Arc/Arg3.1 transcription, translation and degradation in a rat model of normal cognitive aging |
Q24532087 | A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation |
Q35155998 | A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center |
Q22009166 | A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region |
Q80359545 | A targeted deletion upstream of Snrpn does not result in an imprinting defect |
Q41159863 | Activity-Dependent Arc Expression and Homeostatic Synaptic Plasticity Are Altered in Neurons from a Mouse Model of Angelman Syndrome |
Q36719062 | Allan Award Introduction: Arthur L. Beaudet |
Q37699565 | Allelic specificity of Ube3a expression in the mouse brain during postnatal development |
Q36353107 | Alterations in intrinsic membrane properties and the axon initial segment in a mouse model of Angelman syndrome |
Q27321157 | Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. |
Q38681920 | Alzheimer's Disease and ncRNAs. |
Q35958258 | An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A. |
Q33791880 | An inside job: how endosomal Na(+)/H(+) exchangers link to autism and neurological disease |
Q37140791 | An overview of nuclear receptor coregulators involved in cerebellar development |
Q33985870 | Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors |
Q47638614 | Analysis of imprinting in mice with uniparental duplication of proximal chromosomes 7 and 15 by use of a custom oligonucleotide microarray |
Q34128475 | Angelman Syndrome, a Genomic Imprinting Disorder of the Brain |
Q35811797 | Angelman Syndrome. |
Q51890699 | Angelman syndrome due to a novel splicing mutation of the UBE3A gene. |
Q98463747 | Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment |
Q86066086 | Angelman syndrome in adulthood |
Q63644832 | Angelman syndrome: Mutations influence features in early childhood |
Q24678174 | Angelman syndrome: a review of the clinical and genetic aspects |
Q35544005 | Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms |
Q24612484 | Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes |
Q38216017 | Angelman syndrome: review of clinical and molecular aspects |
Q74837223 | Animal models for dysmorphology |
Q31147226 | Antisense transcripts with FANTOM2 clone set and their implications for gene regulation |
Q48415183 | Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC. |
Q30440078 | Behavioral deficits in an Angelman syndrome model: effects of genetic background and age. |
Q28247810 | Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy |
Q44985714 | Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein. |
Q41836063 | Ca(2+)/calmodulin-dependent protein kinase IIα (αCaMKII) controls the activity of the dopamine transporter: implications for Angelman syndrome. |
Q50345135 | Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology |
Q35881586 | Cerebellar associative sensory learning defects in five mouse autism models |
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Q91757431 | Circadian biology and sleep in monogenic neurological disorders and its potential application in drug discovery |
Q37743131 | Clinical and genetic aspects of Angelman syndrome |
Q45893474 | Comparison of two types of non-adherent plate for neuronal differentiation of mouse embryonic stem cells |
Q33887777 | Competition--a common motif for the imprinting mechanism? |
Q48262483 | Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome |
Q26995242 | Dendritic spine dysgenesis in autism related disorders |
Q47771802 | Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism |
Q37712028 | Differential ubiquitination and degradation of huntingtin fragments modulated by ubiquitin-protein ligase E3A. |
Q80103789 | Discordant phenotypes in first cousins with UBE3A frameshift mutation |
Q35170630 | Disease susceptibility genes for autism |
Q28288697 | Dissociation of IGF2 and H19 imprinting in human brain |
Q36266495 | Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model |
Q52130756 | Distinct multi-joint control strategies in spastic diplegia associated with prematurity or Angelman syndrome. |
Q31800343 | Does genomic imprinting contribute to valproic acid teratogenicity? |
Q64259104 | Down-Regulation of miRNA-708 Promotes Aberrant Calcium Signaling by Targeting Neuronatin in a Mouse Model of Angelman Syndrome |
Q34580149 | Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism. |
Q34446311 | Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region. |
Q28291338 | E3-ubiquitin ligase/E6-AP links multicopy maintenance protein 7 to the ubiquitination pathway by a novel motif, the L2G box |
Q38148981 | E6AP in the brain: one protein, dual function, multiple diseases |
Q36760286 | E6AP/UBE3A ubiquitin ligase harbors two E2~ubiquitin binding sites |
Q39191796 | Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a |
Q64040161 | Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes |
Q36862650 | Epigenetic alteration of imprinted genes during neural differentiation of germline-derived pluripotent stem cells. |
Q38087264 | Epigenetic factors and autism spectrum disorders |
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Q81453927 | Expression and assay of HECT domain ligases |
Q37092589 | Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase |
Q57990814 | Familial interstitial 570 kbp deletion of theUBE3Agene region causing Angelman syndrome but not Prader-Willi syndrome |
Q46569544 | Forging our understanding of lncRNAs in the brain |
Q26781685 | From UBE3A to Angelman syndrome: a substrate perspective |
Q27931992 | Functional domains of the Rsp5 ubiquitin-protein ligase. |
Q33697249 | Gender influences monoallelic expression of ATP10A in human brain |
Q28593439 | Genetic ablation of the steroid receptor coactivator-ubiquitin ligase, E6-AP, results in tissue-selective steroid hormone resistance and defects in reproduction |
Q37961799 | Genetic and epigenetic dysregulation of imprinted genes in the brain |
Q39023653 | Genetic control of postnatal human brain growth |
Q50983366 | Genetic engineering cures mice of neurological deficits: prospects for treating Angelman syndrome. |
Q37098748 | Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome. |
Q33655104 | Genetics of Angelman syndrome |
Q34329756 | Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation |
Q35158316 | Genome-wide mapping of imprinted differentially methylated regions by DNA methylation profiling of human placentas from triploidies |
Q33721384 | Genomic imprinting and chromatin insulation in Beckwith-Wiedemann syndrome |
Q35575191 | Genomic imprinting and the social brain |
Q34699894 | Genomic imprinting effects on brain development and function |
Q37715275 | Genomic imprinting in development, growth, behavior and stem cells |
Q30494000 | Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a |
Q35250186 | Genomic imprinting: a chromatin connection |
Q33603375 | Genomic imprinting: concept and clinical consequences |
Q33541538 | Genomic imprinting: implications for human disease |
Q30444132 | HECT E3s and human disease |
Q35649390 | Hematopoietic reconstitution with androgenetic and gynogenetic stem cells |
Q89964995 | Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis |
Q34779403 | Highly parallel SNP genotyping reveals high-resolution landscape of mono-allelic Ube3a expression associated with locus-wide antisense transcription |
Q35195947 | Histone H3 trimethylation at lysine 36 is associated with constitutive and facultative heterochromatin |
Q36210923 | Identification and proteomic analysis of distinct UBE3A/E6AP protein complexes. |
Q35793734 | Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene |
Q34161356 | Impact of induced pluripotent stem cells on the study of central nervous system disease |
Q52144715 | Impaired Neurite Contact Guidance in Ubiquitin Ligase E3a (Ube3a)-Deficient Hippocampal Neurons on Nanostructured Substrates. |
Q28486135 | Impairment of TrkB-PSD-95 signaling in Angelman syndrome |
Q33852775 | Imprinted genes as potential genetic and epigenetic toxicologic targets |
Q51975646 | Imprinted genes, cognition and behaviour. |
Q37278948 | Imprinted noncoding RNAs |
Q37543706 | Imprinting and extraembryonic tissues-mom takes control |
Q47739224 | Imprinting in Angelman and Prader-Willi syndromes |
Q48013064 | Imprinting in Prader-Willi and Angelman syndromes |
Q52187194 | Imprinting mechanisms in mammals. |
Q34026945 | Imprinting: focusing on the center |
Q38776890 | In Vitro Corticogenesis from Embryonic Stem Cells Recapitulates the In Vivo Epigenetic Control of Imprinted Gene Expression. |
Q47682400 | In silico modeling of the cryptic E2∼ubiquitin-binding site of E6-associated protein (E6AP)/UBE3A reveals the mechanism of polyubiquitin chain assembly |
Q37080106 | In vivo and in vitro differentiation of uniparental embryonic stem cells into hematopoietic and neural cell types |
Q30514133 | Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice. |
Q34140440 | Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader–Willi syndromes |
Q33964940 | Insights into synaptic function from mouse models of human cognitive disorders |
Q24628031 | Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb |
Q48360900 | Introduction of Arthur L. Beaudet, Harland Sanders Award recipient |
Q24534306 | Isoform-specific imprinting of the human PEG1/MEST gene |
Q34385408 | Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers |
Q50309632 | Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class |
Q48164862 | Markers associated with neuron-specific Ube3a imprinting during neuronal differentiation of mouse embryonic stem cells. |
Q36128318 | Maternal Ube3a Loss Disrupts Sleep Homeostasis But Leaves Circadian Rhythmicity Largely Intact. |
Q24531844 | Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans |
Q36025486 | Maternal loss of Ube3a produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects. |
Q48906893 | Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome. |
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Q47553724 | Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome |
Q74105881 | Meeting report; "Molecular neurobiological mechanisms in schizophrenia: seeking a synthesis," April 11-14, 1999 |
Q33926084 | Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome |
Q39003471 | Model mice for 15q11-13 duplication syndrome exhibit late-onset obesity and altered lipid metabolism. |
Q28081179 | Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development |
Q50501125 | Modeling human epilepsies in mice. |
Q36455952 | Modes of imprinted gene action in learning disability |
Q36006585 | Molecular and Clinical Aspects of Angelman Syndrome. |
Q36846974 | Molecular basis of genetic neuropsychiatric disorders |
Q84404767 | Molecular characterization of porcine NECD, SNRPN and UBE3A genes and imprinting status in the skeletal muscle of neonate pigs |
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Q34388784 | Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation |
Q33309940 | Monoallelic expression of multiple genes in the CNS. |
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Q54623728 | Mouse imprinting defect mutations that model Angelman syndrome. |
Q35172443 | Mouse models for neurological disease |
Q38248435 | Mutation Update for UBE3A variants in Angelman syndrome |
Q34385742 | Mutation analysis of UBE3A in Angelman syndrome patients |
Q48354837 | Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. |
Q54066632 | Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. |
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