GABAergic neuron-specific loss of Ube3a causes Angelman syndrome-like EEG abnormalities and enhances seizure susceptibility

MC Judson, ML Wallace, MS Sidorov, AC Burette, B Gu… - Neuron, 2016 - cell.com
Loss of maternal UBE3A causes Angelman syndrome (AS), a neurodevelopmental disorder
associated with severe epilepsy. We previously implicated GABAergic deficits onto layer (L) …

Maternal loss of Ube3a produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects

ML Wallace, AC Burette, RJ Weinberg, BD Philpot - Neuron, 2012 - cell.com
Angelman syndrome (AS) is a neurodevelopmental disorder caused by loss of the
maternally inherited allele of UBE3A. AS model mice, which carry a maternal Ube3a null …

Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice

B Gu, KE Carstens, MC Judson… - The Journal of …, 2019 - Am Soc Clin Investig
Angelman syndrome (AS) is a neurodevelopmental disorder in which epilepsy is common (~
90%) and often refractory to antiepileptics. AS is caused by mutation of the maternal allele …

Strain-dependence of the Angelman Syndrome phenotypes in Ube3a maternal deficiency mice

HA Born, AT Dao, AT Levine, WL Lee, NM Mehta… - Scientific reports, 2017 - nature.com
Angelman syndrome (AS) is a genetic neurodevelopmental disorder, most commonly
caused by deletion or mutation of the maternal allele of the UBE3A gene, with behavioral …

Adult Ube3a gene reinstatement restores the electrophysiological deficits of prefrontal cortex layer 5 neurons in a mouse model of Angelman syndrome

DC Rotaru, GM van Woerden, I Wallaard… - Journal of …, 2018 - Soc Neuroscience
E3 ubiquitin ligase (UBE3A) levels in the brain need to be tightly regulated, as loss of
functional UBE3A protein is responsible for the severe neurodevelopmental disorder …

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model

S Silva-Santos, GM Van Woerden… - The Journal of …, 2015 - Am Soc Clin Investig
Angelman syndrome (AS) is a severe neurodevelopmental disorder that results from loss of
function of the maternal ubiquitin protein ligase E3A (UBE3A) allele. Due to neuron-specific …

Impaired hippocampal plasticity and altered neurogenesis in adult Ube3a maternal deficient mouse model for Angelman syndrome

S Mardirossian, C Rampon, D Salvert, P Fort… - Experimental …, 2009 - Elsevier
Angelman syndrome (AS) is a severe neurodevelopmental disorder characterized by mental
retardation, seizures and sleep disturbances. It results from lack of the functional maternal …

From UBE3A to Angelman syndrome: a substrate perspective

GL Sell, SS Margolis - Frontiers in neuroscience, 2015 - frontiersin.org
Angelman syndrome (AS) is a debilitating neurodevelopmental disorder that is
characterized by motor dysfunction, intellectual disability, speech impairment, seizures and …

Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes

M Sonzogni, J Hakonen, M Bernabé Kleijn… - Molecular Autism, 2019 - Springer
Background Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by
mutations affecting UBE3A gene expression. Previous studies in mice revealed distinct …

Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome

RM Gustin, TJ Bichell, M Bubser, J Daily… - Neurobiology of …, 2010 - Elsevier
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 …