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UBE3A gene

Known as: E6AP, UBE3A, ubiquitin protein ligase E3A 
This gene is involved in protein turnover.
National Institutes of Health

Related topics

Related topics

7 relations
Angelman SyndromeHECTD1 geneProtein Degradation, MetabolicUBE3A gene targeted mutation analysis:Prid:Pt:Bld:Nom:Molgen

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UBE3A wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Angelman Syndrome Due to UBE3A Gene Mutation
A 12-y-old boy presented with developmental delay, autism, epilepsy, limb tremors and behavioral problems which posed a… 
2017
2017
Hepatitis C virus core activates proteasomal activator 28γ expression via upregulation of p53 levels to control virus propagation.
The proteasomal activator 28γ (PA28γ), frequently overexpressed in hepatocellular carcinoma, is believed to play several… 
2017
2017
Protein ubiquitination involving an E 1E 2E 3 enzyme ubiquitin thioester cascade
UBIQUITINATION of proteins involves the concerted action of the El ubiquitin-activating enzyme, E2 ubiquitin-conjugating enzymes… 
2017
2017
Ubiquitin chain specificities of E6AP E3 ligase and its HECT domain.
2013
2013
c-Abl phosphorylates E6AP and regulates its E3 ubiquitin ligase activity.
In human papillomavirus (HPV)-infected cells, the p53 tumor suppressor is tightly regulated by the HPV-E6-E6AP complex, which… 
2013
2013
Knockdown of CDKN1C (p57kip2) and PHLDA2 Results in Developmental Changes in Bovine Pre-implantation Embryos
Imprinted genes have been implicated in early embryonic, placental, and neonatal development and alterations in expression levels… 
2012
2012
Dysfunction of the Ubiquitin Ligase Ube3a May Be Associated with Synaptic Pathophysiology in a Mouse Model of Huntington Disease*
Background: The molecular mechanism of cognitive deficit in Huntington disease (HD) is poorly understood. Results: Altered… 
2004
2004
UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis
Angelman syndrome (AS) is a neurogenetic disorder associated with a loss of maternal gene expression in chromosome region 15q11… 
2004
2004
A HECT E3 ubiquitin-protein ligase with sequence similarity to E6AP does not target p53 for degradation in the softshell clam (Mya arenaria).
Highly Cited
1999
Highly Cited
1999
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling
Angelman syndrome (AS) is a neurological disorder with a heterogeneous genetic aetiology. It most frequently results from a de… 
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