|
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Over activation of UBE3A is also linked with autism.
|
30814928 |
2019 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Here, we study axon and dendrite contact guidance and neuronal morphological features of wild-type, AS, and UBE3A-overexpressing neurons (Dup15q autism model) on micrograting substrates, with the aim to clarify the role of UBE3A in neuronal guidance.
|
31798818 |
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 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
The autism-associated gene ubiquitin-protein ligase E3A (UBE3A) has been reported to influence WNT, BMP, and RA signaling pathways, suggesting crosstalk between various signaling pathways during autistic brain development.
|
31202261 |
2019 |
|
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
This review focuses on the critical role of UBE3A in regulating the synaptic function and how its altered activity is associated with autism.
|
30568575 |
2018 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Loss of UBE3A causes Angelman syndrome, whereas excess UBE3A activity appears to increase the risk for autism.
|
30364390 |
2018 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
The E6-associated protein (E6AP, an E3 ubiquitin protein ligase enzyme) is encoded by the gene UBE3A, which is located in this region, and it has been shown that deregulation of E6AP gives rise to AS and neuropathology of autism spectrum disorders (ASDs) (e.g., autism and Rett syndromes).
|
29388081 |
2018 |
|
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
E3 ubiquitin ligase (UBE3A) levels in the brain need to be tightly regulated, as loss of functional UBE3A protein is responsible for the severe neurodevelopmental disorder Angelman syndrome (AS), whereas increased activity of UBE3A is associated with nonsyndromic autism.
|
30082419 |
2018 |
|
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We found that in primary neurons and in Ube3A transgenic autism mouse brain, overexpression of E6AP leads to significant loss of dendritic arborization.
|
29175955 |
2018 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
UBE3A is a HECT domain E3 ubiquitin ligase whose dysfunction is linked to autism, Angelman syndrome, and cancer.
|
28559284 |
2017 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Maternally inherited 15q11-13 chromosomal triplications cause a frequent and highly penetrant type of autism linked to increased gene dosages of UBE3A, which encodes a ubiquitin ligase with transcriptional co-regulatory functions.
|
28297715 |
2017 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Conversely, maternally-derived triplications of 15q11-13 cause a behavioral disorder on the autism spectrum with clinical features that include decreased sociability that we recently reconstituted in mice with Ube3a alone.
|
28411125 |
2017 |
|
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Altered expression of the E3 ubiquitin ligase UBE3A, which is involved in protein degradation through the proteasome-mediated pathway, is associated with neurodevelopmental and behavioral defects observed in Angelman syndrome (AS) and autism.
|
27232889 |
2016 |
|
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Moreover, our findings implicate excessive UBE3A activity and the resulting synaptic dysfunction to autism pathogenesis.
|
26255772 |
2015 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Ube3a, the E3 ubiquitin ligase causing Angelman syndrome and linked to autism, regulates protein homeostasis through the proteasomal shuttle Rpn10.
|
24292889 |
2014 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
The identification of UBE3A targets is the first step in unraveling the molecular etiology of AS and duplication 15q autism.
|
23626758 |
2013 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum.
|
23495136 |
2013 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
CTD_human |
Our data support a potential role of UBE3A in the complex pathogenic mechanisms of autism.
|
20609483 |
2011 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our data support a potential role of UBE3A in the complex pathogenic mechanisms of autism.
|
20609483 |
2011 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
CTD_human |
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
|
19404257 |
2009 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we investigated the association between autism and the maternal expression domain (MED) in the region, containing the UBE3A and ATP10C genes, and the upstream imprinting center (IC), which mediates coordinate control of imprinted expression throughout the region.
|
18186074 |
2008 |
|
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
These results suggest an overlapping pathway of gene dysregulation within 15q11-q13 in Rett, Angelman and autism and implicate MeCP2 in the regulation of UBE3A and GABRB3 expressions in the postnatal mammalian brain.
|
15615769 |
2005 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Based on evidence for allele sharing in 15q among sib-pairs, abnormal DNA methylation at the 5'-CpG island of UBE3A in one of 17 autism brains, and decreased E6-AP protein in some autism brains, we propose a mixed epigenetic and genetic model for autism with both de novo and inherited contributions.
|
15389703 |
2004 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Maternally, but not paternally, derived defects, such as duplications, within the AS critical region result in autistic symptomatology, suggesting that the UBE3A gene might be implicated in the causation of autism.
|
15521981 |
2004 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
CTD_human |
We have screened the families of the Collaborative Linkage Study of Autism for several markers spanning a candidate region covering approximately 2 Mb and including the Angelman syndrome gene (UBE3A) and a cluster of gamma-aminobutyric acid (GABA(A)) receptor subunit genes (GABRB3, GABRA5, and GABRG3).
|
11543639 |
2001 |