|
Angelman Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes.
|
31143434 |
2019 |
|
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 |
|
nervous system disorder
|
0.070 |
Biomarker
|
group |
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 |
|
Neuroblastoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
The proteasome receptor DDI1 has been identified both in <i>Drosophila</i> photoreceptor neurons and in human neuroblastoma cells in culture as a direct substrate of UBE3A.
|
31130875 |
2019 |
|
Central neuroblastoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
The proteasome receptor DDI1 has been identified both in <i>Drosophila</i> photoreceptor neurons and in human neuroblastoma cells in culture as a direct substrate of UBE3A.
|
31130875 |
2019 |
|
Childhood Neuroblastoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
The proteasome receptor DDI1 has been identified both in <i>Drosophila</i> photoreceptor neurons and in human neuroblastoma cells in culture as a direct substrate of UBE3A.
|
31130875 |
2019 |
|
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 |
|
Seizures
|
0.160 |
AlteredExpression
|
phenotype |
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 |
|
Autism Spectrum Disorders
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Conversely, copy number variations (CNVs) that result in the overexpression of E6AP are strongly associated with the development of autism spectrum disorders (ASDs), defined by decreased communication, impaired social interest, and increased repetitive behavior.
|
31114479 |
2019 |
|
Neurodevelopmental Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
UBE3A is a gene implicated in neurodevelopmental disorders.
|
31114479 |
2019 |
|
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 |
|
Neurodevelopmental Disorders
|
0.100 |
Biomarker
|
group |
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 |
|
Hepatitis C
|
0.030 |
Biomarker
|
disease |
BEFREE |
Vital biological links between E6AP and other viruses, namely hepatitis C virus and encephalomyocarditis virus, have been recently uncovered.
|
31087000 |
2019 |
|
Virus Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
In this review we discuss the role of E6AP in viral infection, viral propagation and viral-related cancer.
|
31087000 |
2019 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We phenotyped a large population of typical individuals for autism spectrum and schizotypal traits and genotyped them for a set of SNPs in UBE3A.
|
30897394 |
2019 |
|
Psychotic Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
Maternal duplications of the 15q11-q13 chromosome region that overlap the imprinted region also show an association with schizophrenia, further implying a connection between increased dosage of UBE3A and the development of schizophrenia and psychosis.
|
30897394 |
2019 |
|
Schizophrenia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our results provide an independent line of evidence, connecting the imprinted UBE3A gene to the schizophrenia spectrum.
|
30897394 |
2019 |
|
Nonorganic psychosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Maternal duplications of the 15q11-q13 chromosome region that overlap the imprinted region also show an association with schizophrenia, further implying a connection between increased dosage of UBE3A and the development of schizophrenia and psychosis.
|
30897394 |
2019 |
|
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 |
|
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Over activation of UBE3A is also linked with autism.
|
30814928 |
2019 |
|
Autism Spectrum Disorders
|
0.100 |
Biomarker
|
disease |
BEFREE |
UBE3A is an E3 ubiquitin ligase that targets proteins for degradation and trafficking, so finding UBE3A substrates and interacting partners is critical to understanding Dup15q ASD.
|
30787400 |
2019 |
|
Chromosome 15q, trisomy
|
0.030 |
Biomarker
|
disease |
BEFREE |
15q11.2-q13.1 includes the gene UBE3A which is believed to underlie ASD observed in Dup15q syndrome.
|
30787400 |
2019 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Deregulation of the HECT-type ubiquitin ligase E6AP (UBE3A) is implicated in human papilloma virus-induced cervical tumorigenesis and several neurodevelopmental disorders.
|
30737286 |
2019 |
|
Neurodevelopmental Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Deregulation of the HECT-type ubiquitin ligase E6AP (UBE3A) is implicated in human papilloma virus-induced cervical tumorigenesis and several neurodevelopmental disorders.
|
30737286 |
2019 |
|
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 |