UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 GeneticVariation disease BEFREE Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by mutation or deletion of the maternally inherited UBE3A allele. 31490639 2020
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 GeneticVariation disease BEFREE Angelman syndrome (AS) is a congenital neuro-developmental disorder typically occurring due to functional defects of the UBE3A gene caused by uniparental disomy (UPD), translocation or single gene mutation. 31173236 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 AlteredExpression disease BEFREE Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes. 31143434 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 GeneticVariation disease BEFREE As compared to training with massed trials, spaced training significantly improved learning in both the Ts65Dn trisomy mouse model of Down syndrome and the maternally inherited Ube3a mutant mouse model of Angelman syndrome. 31182707 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 AlteredExpression disease BEFREE Loss of E6AP expression leads to the development of Angelman syndrome (AS), clinically characterized by lack of speech, abnormal motor development, and the presence of seizures. 31114479 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 AlteredExpression disease BEFREE This study tested the hypothesis that by increasing the methylation of the UBE3A-antisense transcript in Angelman syndrome to promote expression of the silenced paternal UBE3A gene we may ameliorate the clinical phenotypes of AS. 31640736 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 GeneticVariation disease BEFREE Our results provide strong evidence for the contribution of non-UBE3A neuronal pathophysiology in deletion AS and suggest that hemizygosity of the GABRB3-GABRA5-GABRG3 gene cluster causes abnormal theta and beta EEG oscillations that may underlie the more severe clinical phenotype. 30826071 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker disease BEFREE Thus, our results identify HAP1 as an in vivo UBE3A target that contributes to deregulated autophagy and synaptic dysfunction in the central nervous system of AS mouse. 31445164 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 AlteredExpression disease BEFREE The observed differences in sex-dependent neurobehavioral phenotypes and the differential transcriptome expression profiles in AS mice strengthen the evidence for molecular cross talk between Ube3a protein and sex hormone receptors or their elicited pathways. 30706369 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker disease BEFREE Taken together, our findings elucidate the mechanisms underlying the subcellular localization of UBE3A, and indicate that the nuclear UBE3A isoform is the most critical for the pathophysiology of Angelman syndrome. 31235931 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker disease BEFREE Since its discovery, the E3 ubiquitin ligase E6-associated protein (E6AP) has been studied extensively in two pathological contexts: infection by the human papillomavirus (HPV), and the neurodevelopmental disorder, Angelman syndrome. 31087000 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 AlteredExpression disease BEFREE We found that loss of axonal contact guidance is specific for AS neurons while UBE3A overexpression does not affect neuronal directional polarization along microgratings. 31798818 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 GeneticVariation disease BEFREE The primary genetic cause of Angelman syndrome is a maternally transmitted mutation in the Ube3a gene, which has been successfully modeled in Ube3a mutant mice. 31730795 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 GeneticVariation disease BEFREE We established human induced pluripotent stem cells (iPSCs) from an Angelman syndrome patient with the deletion of maternal 15q11.2-q13 including UBE3A gene. 30605843 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker disease BEFREE Removal of this element led to up-regulation of <i>UBE3A-ATS</i> without repressing paternal <i>UBE3A</i> However, increasing expression of <i>UBE3A-ATS</i> in the absence of the boundary element resulted in full repression of paternal <i>UBE3A</i>, demonstrating that <i>UBE3A</i> imprinting requires both the loss of function from the boundary element as well as the up-regulation of <i>UBE3A-ATS</i> These results suggest that manipulation of the competition between <i>UBE3A-ATS</i> and <i>UBE3A</i> may provide a potential therapeutic approach for AS. 30674673 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 AlteredExpression disease BEFREE Angelman syndrome (AS) is a neurogenetic disorder associated with impaired expression of the ubiquitin-protein ligase E3A gene on chromosome 15. 30681431 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker disease BEFREE Deficiency in the E3 ubiquitin ligase UBE3A leads to the neurodevelopmental disorder Angelman syndrome (AS), while additional dosage of UBE3A is linked to autism spectrum disorder. 31160454 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker disease BEFREE Here, we implemented the flurothyl kindling and retest paradigm in AS model mice to assess epileptogenesis and to gain mechanistic insights owed to loss of maternal Ube3a. 30352049 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 GeneticVariation disease BEFREE Previous studies of UBE3A function have not examined full Ube3a deletion in mouse, the complexity of imprinted gene networks in brain, nor the molecular basis of systems-level cognitive dysfunctions in Angelman syndrome. 31625566 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 AlteredExpression disease BEFREE The complete characterization of the ubiquitination pathway of an UBE3A substrate is important due to the role of this E3 ligase in rare neurological disorders as Angelman syndrome. 31130875 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker disease BEFREE Genome-wide transcriptome analysis revealed an enrichment of genes downstream of interferon regulatory factor (IRF) in a UBE3A-deficient AS mouse model. 30690483 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 GeneticVariation disease BEFREE Angelman syndrome (AS) is a neurodevelopmental disorder caused by the loss of function of the maternal copy of the UBE3A gene. 31401139 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 GeneticVariation disease BEFREE Exome sequencing revealed a previously unreported mutation of Ubiquitin Protein Ligase E3A (UBE3A) gene, confirming the diagnosis of Angelman syndrome. 29250725 2018
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 GeneticVariation disease BEFREE Perturbations in activity and dosage of the UBE3A ubiquitin-ligase have been linked to Angelman syndrome and autism spectrum disorders. 29426014 2018
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker disease BEFREE These anatomical data may help to elucidate the role of UBE3A in Angelman syndrome and autism spectrum disorder. 30364390 2018