Characterisation of Autophagy Receptor variants and their contribution to ALS-FTLD pathogenesis

Adriana Foster

Research output: ThesisDoctoral Thesis

36 Downloads (Pure)

Abstract

Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are neurodegenerative diseases that exist on a disease continuum due to genetic, pathologic, and symptomatic overlap. Mutations in the SQSTM1 gene, which encodes the protein p62, have been identified in FTLD and ALS patients, however the role of these mutations and their contribution to disease pathogenesis is unclear. p62 executes various functions through several functional domains. This study sought to determine how mutations affecting these various domains alter p62 function, whether they exhibit a unified mechanism of pathogenesis, and how they may contribute to ALS and FTLD pathogenesis.
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • The University of Western Australia
Supervisors/Advisors
  • Rea, Sarah, Supervisor
  • Laing, Nigel, Supervisor
  • Yerbury, Justin, Supervisor, External person
Thesis sponsors
Award date17 Oct 2020
DOIs
Publication statusUnpublished - 2020

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