The localization and function of UBE3A isoforms in neurodevelopment: Everything in its right place

Isabella Zampeta

Research output: Types of ThesisDoctoral ThesisInternal

2 Downloads (Pure)

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 languageEnglish
Awarding Institution
  • Erasmus University Rotterdam
Supervisors/Advisors
  • Elgersma, Ype, Supervisor
  • Distel, Ben, Co-supervisor
Award date21 Mar 2024
Place of PublicationRotterdam
Publication statusPublished - 21 Mar 2024

Fingerprint

Dive into the research topics of 'The localization and function of UBE3A isoforms in neurodevelopment: Everything in its right place'. Together they form a unique fingerprint.

Cite this