|
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 |
|
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 |
|
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 |
|
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 |
|
Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
|
31640736 |
2019 |
|
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 |
|
Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
UBE3A encodes a E3 ubiquitin ligase whose loss from the maternal allele causes the neurodevelopmental disorder Angelman syndrome.
|
31625566 |
2019 |
|
Impaired cognition
|
0.020 |
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 |
|
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 |
|
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 |
|
Huntington Disease
|
0.030 |
Biomarker
|
disease |
BEFREE |
We identified huntingtin (Htt)-associated protein (HAP1), a protein that is involved in Huntington's disease (HD), as a new target of UBE3A.
|
31445164 |
2019 |
|
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 |
|
Menstrual spotting
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
In the present study, we applied nano-LC based proteomics approach to identify E6AP-interacting proteins where we performed GST-pull down using GST-E6AP from whole cell extracts of MCF7 cells, resolved the differentially interacting proteins on 1D-SDS-PAGE, excised the gel bands that were trypsin digested followed by fractionation and spotting on MALDI-TOF/TOF plate through Nano-LC MALDI spotter.
|
31329371 |
2019 |
|
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 |
|
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 |
|
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 |
|
Intellectual Disability
|
0.140 |
Biomarker
|
group |
BEFREE |
Spaced training improves learning in Ts65Dn and Ube3a mouse models of intellectual disabilities.
|
31182707 |
2019 |
|
Down Syndrome
|
0.010 |
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 |
|
Complete Trisomy 21 Syndrome
|
0.010 |
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 |
|
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 |
|
Developmental Disabilities
|
0.010 |
GeneticVariation
|
group |
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 |
|
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 |
|
Autism Spectrum Disorders
|
0.100 |
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 |
|
Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The mechanisms underlying the downstream effects of UBE3A gain or loss of function in these neurodevelopmental disorders are still not well understood, and effective treatments are lacking.
|
31160454 |
2019 |
|
Pervasive Development Disorder
|
0.020 |
Biomarker
|
group |
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 |