UBE3A and Its Link With Autism [PDF]
Frontiers in Molecular Neuroscience, 2018 UBE3A is a dual function protein consisting of ubiquitin ligase as well as transcriptional co-activator function. UBE3A gene is imprinted in the brain with preferential maternal-specific expression particularly in the neuron and loss of activity of the ...
Naman Vatsa +2 more
exaly +6 more sources
AAV-dCas9 vector unsilences paternal Ube3a in neurons by impeding Ube3a-ATS transcription [PDF]
Communications BiologyAngelman syndrome (AS) is a debilitating neurodevelopmental disorder caused by loss of maternally-inherited UBE3A. In neurons, paternally-inherited UBE3A is silenced in cis by a long non-coding RNA called Ube3a-ATS.
Justin M. Wolter +9 more
doaj +6 more sources
Detailed Dissection of UBE3A-Mediated DDI1 Ubiquitination [PDF]
Frontiers in Physiology, 2019 The ubiquitin E3 ligase UBE3A has been widely reported to interact with the proteasome, but it is still unclear how this enzyme regulates by ubiquitination the different proteasomal subunits.
Nagore Elu +2 more
exaly +7 more sources
From UBE3A to Angelman syndrome: a substrate perspective [PDF]
Frontiers in Neuroscience, 2015 Angelman syndrome (AS) is a debilitating neurodevelopmental disorder that is characterized by motor dysfunction, intellectual disability, speech impairment, seizures and common features of autism spectrum disorders (ASDs).
Seth S Margolis
exaly +6 more sources
Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model. [PDF]
PLoS Genetics, 2013 Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A. Individuals with AS suffer from intellectual disability, speech impairment, and motor dysfunction.
Linyan Meng +5 more
doaj +5 more sources
UBE3A Inhibits Trophoblast Cell Migration and Invasion by Promoting ITGB1 Degradation and Affecting PI3K/AKT Signaling [PDF]
Kaohsiung Journal of Medical SciencesPreeclampsia (PE) is an obstetric disease that is characterized by reduced migration and invasion of placental trophoblast cells. Here, the effects of the E3 ubiquitin ligase UBE3A on the migration and invasion of trophoblast cells were evaluated.
Xiu‐Jun Li +5 more
doaj +3 more sources
UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects [PDF]
Molecular AutismBackground Angelman Syndrome (AS) is a severe neurodevelopmental disorder with only symptomatic treatment currently available. The primary cause of AS is loss of functional UBE3A protein.
Claudia Milazzo +11 more
doaj +3 more sources
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function [PDF]
Scientific Reports, 2021 Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by brain-specific loss of UBE3A, an E3 ubiquitin protein ligase. A substantial number of possible ubiquitination targets of UBE3A have been identified, although evidence of being ...
Rossella Avagliano Trezza +9 more
doaj +2 more sources
Neurobiology of Disease, 2010 Angelman syndrome (AS) is a neurogenetic disorder caused by loss of maternal UBE3A expression or mutation-induced dysfunction of its protein product, the E3 ubiquitin–protein ligase, UBE3A.
Terry Jo Bichell +2 more
exaly +3 more sources
Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila. [PDF]
PLoS Genetics, 2016 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.
Wenhua Li +11 more
doaj +2 more sources