UBE3A is a HECT domain E3 ubiquitin ligase whose dysfunction is linked to autism, Angelman syndrome, and cancer. Recently, we characterized a de novo autism-linked UBE3A mutant (UBE3AT485A) that disrupts phosphorylation control of UBE3A activity. Through quantitative proteomics and reporter assays, we found that the UBE3AT485A protein ubiquitinates multiple proteasome subunits, reduces proteasome subunit abundance and activity, stabilizes nuclear β-catenin, and stimulates canonical Wnt signaling more effectively than wild-type UBE3A. We also found that UBE3AT485A activates Wnt signaling to a greater extent in cells with low levels of ongoing Wnt signaling, suggesting that cells with low basal Wnt activity are particularly vulnerable to UBE3...
This report is a meeting summary of the 2010 Angelman Syndrome Foundation's scientific symposium on ...
The mechanisms that underlie the extensive phenotypic diversity in genetic disorders are poorly unde...
Abstract The landscape of autism spectrum disorder (ASD) in Lebanon is unique because of high rates ...
SummaryDeletion of UBE3A causes the neurodevelopmental disorder Angelman syndrome (AS), while duplic...
Deletion of UBE3A causes the neurodevelopmental disorder Angelman syndrome (AS) while duplication or...
Ubiquitination, the covalent attachment of ubiquitin to a target protein, regulates most cellular pr...
UBE3A is a dual function protein consisting of ubiquitin ligase as well as transcriptional co-activa...
Background Loss of UBE3A causes Angelman syndrome, whereas excess UBE3A activity app...
The ubiquitin E3 ligase UBE3A has been widely reported to interact with the proteasome, but it is st...
UBE3A is an E3 ubiquitin ligase encoded by an imprinted gene whose maternal deletion or duplication ...
UBE3A is a protein with dual functions as an E3 ubiquitin ligase and as a Steroid Hormone Receptor (...
UBE3A is a HECT E3 ubiquitin ligase that is biallelically expressed in most tissues, but paternally ...
UBE3A is an E3 ubiquitin ligase encoded by an imprinted gene whose maternal deletion or duplication ...
SummaryAngelman Syndrome is a debilitating neurological disorder caused by mutation of the E3 ubiqui...
Angelman Syndrome (AS) is a severe neurodevelopmental disorder that affects 1:12000 newborns. It is ...
This report is a meeting summary of the 2010 Angelman Syndrome Foundation's scientific symposium on ...
The mechanisms that underlie the extensive phenotypic diversity in genetic disorders are poorly unde...
Abstract The landscape of autism spectrum disorder (ASD) in Lebanon is unique because of high rates ...
SummaryDeletion of UBE3A causes the neurodevelopmental disorder Angelman syndrome (AS), while duplic...
Deletion of UBE3A causes the neurodevelopmental disorder Angelman syndrome (AS) while duplication or...
Ubiquitination, the covalent attachment of ubiquitin to a target protein, regulates most cellular pr...
UBE3A is a dual function protein consisting of ubiquitin ligase as well as transcriptional co-activa...
Background Loss of UBE3A causes Angelman syndrome, whereas excess UBE3A activity app...
The ubiquitin E3 ligase UBE3A has been widely reported to interact with the proteasome, but it is st...
UBE3A is an E3 ubiquitin ligase encoded by an imprinted gene whose maternal deletion or duplication ...
UBE3A is a protein with dual functions as an E3 ubiquitin ligase and as a Steroid Hormone Receptor (...
UBE3A is a HECT E3 ubiquitin ligase that is biallelically expressed in most tissues, but paternally ...
UBE3A is an E3 ubiquitin ligase encoded by an imprinted gene whose maternal deletion or duplication ...
SummaryAngelman Syndrome is a debilitating neurological disorder caused by mutation of the E3 ubiqui...
Angelman Syndrome (AS) is a severe neurodevelopmental disorder that affects 1:12000 newborns. It is ...
This report is a meeting summary of the 2010 Angelman Syndrome Foundation's scientific symposium on ...
The mechanisms that underlie the extensive phenotypic diversity in genetic disorders are poorly unde...
Abstract The landscape of autism spectrum disorder (ASD) in Lebanon is unique because of high rates ...