Ontology highlight
ABSTRACT:
SUBMITTER: Avagliano Trezza R
PROVIDER: S-EPMC7862399 | biostudies-literature | 2021 Feb
REPOSITORIES: biostudies-literature
Avagliano Trezza Rossella R Punt A Mattijs AM Mientjes Edwin E van den Berg Marlene M Zampeta F Isabella FI de Graaf Ilona J IJ van der Weegen Yana Y Demmers Jeroen A A JAA Elgersma Ype Y Distel Ben B
Scientific reports 20210204 1
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 direct UBE3A substrates is often lacking. Here we identified the synaptic protein Rabphilin-3a (RPH3A), an effector of the RAB3A small GTPase involved in axonal vesicle priming and docking, as a ubiquitination target of UBE3A. We found that the UBE3A ...[more]