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TranscriptomicsUbe3a-ATS characterization with strand-speicific microarray
This strand-specific array is performed to characterize expression features of Ube3a-ATS, including its imprinting status, its exon-intron structure, its transcriptional initiation and termination site as well as its polyadenylation status. The array contains reverse-complementary probes detecting t...
ORGANISM(S): Mus musculus 
2012-05-02 | E-GEOD-29254 | biostudies-arrayexpress
ProteomicsHyperactive UBE3A Variants Cause Neomorphic Neurodevelopmental Phenotypes
Mutations in the E3 ubiquitin ligase UBE3A that cause enzymatic gain-of-function result in heterogeneous disease phenotypes in humans which differ from classic Angelman syndrome. We describe two affected siblings who possess an inherited UBE3AL734S variant that causes a strong gain in UBE3A activity...
ORGANISM(S): Mus musculus (Mouse) 
2025-05-07 | PXD055901 | Pride
Ube3a Autism 
ProteomicsUBE3A reinstatement restores behavior and proteome in an Angelman Syndrome mouse model of Imprinting Defects
Abstract Background: 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. This can be caused by deletions in the maternal 15q11-q13 region, maternal AS-imprinting center defect...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2025-04-16 | MSV000097644 | MassIVE
ProteomicsIdentification of small molecule activators of the ubiquitin ligase E6AP/UBE3A and Angelman syndrome-derived E6AP/UBE3A variants
Genetic aberrations of the UBE3A gene encoding the E3 ubiquitin ligase E6AP underlie the development of Angelman syndrome (AS). Approximately 10 percent of AS individuals harbor UBE3A genes with point mutations, frequently resulting in the expression of full-length E6AP variants with defective E3 ac...
ORGANISM(S): Homo sapiens (Human) 
2020-09-28 | PXD020602 | Pride
Ube3a Angelman syndrome Crosslinking coupled to mass spectrometry E6ap Small molecule activator Fluorescence polarization Xl-ms Ubiquitin ligase High-throughput screen 
GenomicsAbundance and localization of human UBE3A isoforms
Abundance and localization of human UBE3A isoforms
PRJNA512845 | ENA
GenomicsUBE3A Deficiency Downregulates Retinoic Acid Signalling Pathway
UBE3A Deficiency Downregulates Retinoic Acid Signalling Pathway
PRJNA714431 | ENA
ProteomicsCobalamins function as allosteric activators of an Angelman syndrome-associated UBE3A/E6AP variant
Genetic aberrations of the maternal UBE3A allele, which encodes the E3 ubiquitin ligase E6AP, are the cause of Angelman syndrome (AS), an imprinting disorder. In most cases, the maternal UBE3A allele is not expressed. Yet, approximately 10 percent of AS individuals harbor distinct point mutations in...
ORGANISM(S): Homo sapiens (Human) 
2024-05-09 | PXD048963 | Pride
Lip-ms Small molecule activators Qxl-ms Structural proteomics Ube3a Angelman syndrome 
GenomicsBulk RNA-sequencing of pigs with UBE3A maternal deletion [Pig_CSC_bulkRNAseq]
Bulk RNA-sequencing of pigs with UBE3A maternal deletion [Pig_CSC_bulkRNAseq]
PRJNA1381648 | ENA
GenomicsBulk RNA-sequencing of pigs with UBE3A maternal deletion [Pig_Cortex_bulkRNAseq]
Bulk RNA-sequencing of pigs with UBE3A maternal deletion [Pig_Cortex_bulkRNAseq]
PRJNA1381635 | ENA
GenomicsMolecular and behavioral consequences of Ube3a gene overdosage in mice
Molecular and behavioral consequences of Ube3a gene overdosage in mice
PRJNA843957 | ENA
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