Abstract
UBE3A is a ubiquitin E3 ligase, holding a key role in brain development. Its importance is manifested in its absence; the lack of functional UBE3A results in Angelman syndrome, a severe neurodevelopmental disorder. UBE3A is expressed in different isoforms, varying between mice and humans. The research presented in this dissertation attempts to unravel the molecular mechanisms that influence the localization and function of UBE3A isoforms across species, aiming to delineate their contributions to the pathology of Angelman syndrome.
Original language | English |
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Award date | 21 Mar 2024 |
Place of Publication | Rotterdam |
Publication status | Published - 21 Mar 2024 |