Work

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

Year: 2024

Type: dissertation

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.

Source: EUR Research Repository (Erasmus University Rotterdam)

Author: Zampeta, Isabella

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

Open Access status: green

OpenAlex ID: W7140150894

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