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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 
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 
UnknownA preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition.
Not available
S-EPMC12318228 | biostudies-literature
UnknownFrom first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research.
Not available
S-EPMC9672030 | biostudies-literature
UnknownAngelman Syndrome and Angelman-like Syndromes Share the Same Calcium-Related Gene Signatures.
Not available
S-EPMC8469403 | biostudies-literature
GenomicsAngelman syndrome trio
Exome sequencing Angelman trio
PRJEB41088 | ENA
GenomicsPersistent neuronal stress signaling underlies Angelman syndrome phenotypes
Persistent neuronal stress signaling underlies Angelman syndrome phenotypes
PRJNA1425309 | ENA
UnknownEvaluation of the safety and tolerability of a nutritional Formulation in patients with ANgelman Syndrome (FANS): study protocol for a randomized controlled trial.
Not available
S-EPMC6953273 | biostudies-literature
UnknownAtypical alpha oscillatory EEG dynamics in children with Angelman syndrome.
Not available
S-EPMC12409793 | biostudies-literature
UnknownAberrant aggressive behavior in a mouse model of Angelman syndrome.
Not available
S-EPMC7794213 | biostudies-literature
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