|
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 |
|
Neurodevelopmental Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
UBE3A is a gene responsible for the pathogenesis of Angelman syndrome (AS), a neurodevelopmental disorder characterized by symptoms such as intellectual disability, delayed development and severe speech impairment.
|
30690483 |
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 |
|
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 |
|
Neurodevelopmental Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
UBE3A is a gene implicated in neurodevelopmental disorders.
|
31114479 |
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 |
|
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 |
|
Neurodevelopmental Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Understanding the genome-wide influences of UBE3A will help uncover its role in early brain development and ultimately lead to identification of key therapeutic targets for UBE3A-related neurodevelopmental disorders.
|
30686997 |
2018 |
|
Neurodevelopmental Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Despite this powerful association with neurodevelopmental disorders, there is still much to be learned about UBE3A, including its cellular and subcellular organization in the human brain.
|
30364390 |
2018 |
|
Neurodevelopmental Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Given the role of mPFC in neurodevelopmental disorders including autism, we aimed to identify the functional changes resulting from loss of UBE3A in infralimbic and prelimbic mPFC areas in a mouse model of AS.
|
30082419 |
2018 |
|
Neurodevelopmental Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The UBE3A gene demonstrates maternal-specific expression in neurons and loss of maternal UBE3A causes Angelman syndrome, a neurodevelopmental disorder with some overlapping neurological features to Dup15q.
|
29016856 |
2017 |
|
Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Angelman syndrome (AS) is a neurodevelopmental disorder largely caused by the loss of function of maternally inherited UBE3A.
|
27581300 |
2017 |
|
Neurodevelopmental Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Here, we construct an orthogonal UB transfer (OUT) cascade to identify the substrates of E6AP, a HECT E3 also known as Ube3a that is implicated in cancer and neurodevelopmental disorders.
|
29263404 |
2017 |
|
Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Deletion of UBE3A causes the neurodevelopmental disorder Angelman syndrome (AS), while duplication or triplication of UBE3A is linked to autism.
|
26255772 |
2015 |
|
Neurodevelopmental Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Angelman and Dup15q syndromes as well as experimental models of these neurodevelopmental disorders are highlighted as improving understanding of UBE3A and its complex regulation for improving therapeutic strategies.
|
26585570 |
2015 |
|
Neurodevelopmental Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Angelman syndrome is a neurodevelopmental disorder caused by a deficiency of the imprinted and maternally expressed UBE3A gene.
|
25212744 |
2014 |
|
Neurodevelopmental Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Angelman syndrome (AS; OMIM 105830) is a neurodevelopmental disorder and is due to the loss of maternally expressed UBE3A gene.
|
23686718 |
2013 |
|
Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Specifically, we examine neurodevelopmental disorders that share significant phenotypic overlap with ASDs and feature the dysregulation of epigenetically modified genes including UBE3A, GABA receptor genes, and RELN.
|
23468062 |
2013 |
|
Neurodevelopmental Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of UBE3A.
|
21204213 |
2011 |
|
Neurodevelopmental Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Consistent with these findings, E6-AP knockout mice display an elevated level of Ring1B and ubiquitinated histone H2A in various tissues, including cerebellar Purkinje neurons, which may have implications to the pathogenesis of Angelman syndrome, a neurodevelopmental disorder caused by deficiency of E6-AP in the brain.
|
20351251 |
2010 |
|
Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
On the other hand, the lack of maternal contribution causes Angelman syndrome, a neurodevelopmental disorder associated with a loss of maternal gene expression in chromosome region 15q11-q13, and more specifically, of the UBE3A gene.
|
20033293 |
2009 |
|
Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The only two known mammalian clusters of genes encoding small nucleolar RNAs (snoRNAs), SNRPN through UBE3A(15q11-q13/7qC) and GTL2(14q32.2/12qF1), are neuronally expressed, localized to imprinted loci and involved in at least five neurodevelopmental disorders.
|
19656775 |
2009 |
|
Neurodevelopmental Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Angelman syndrome (AS) is a neurodevelopmental disorder caused by failure of expression of the maternal copy of the imprinted UBE3A gene through a variety of mechanisms detected by methylation studies, mutation analysis of UBE3A and FISH.
|
16740422 |
2007 |
|
Neurodevelopmental Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Angelman syndrome (AS) is a neurodevelopmental disorder due to a functional deficit, usually a deletion, of the UBE3A gene located in the 15q11-q13 chromosome region.
|
15607424 |
2005 |
|
Neurodevelopmental Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.
|
15615769 |
2005 |