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

Adriana Foster

doi:10.26182/rjjz-cx61

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

Adriana Foster

UWA Medical School

Research output: Thesis › Doctoral Thesis

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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 language	English
Qualification	Doctor of Philosophy
Awarding Institution	The University of Western Australia
Supervisors/Advisors	Rea, Sarah, Supervisor Laing, Nigel, Supervisor Yerbury, Justin, Supervisor, External person
Thesis sponsors	Australian Government Research Training Program
Award date	17 Oct 2020
DOIs	https://doi.org/10.26182/rjjz-cx61
Publication status	Unpublished - 2020

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THESIS - DOCTOR OF PHILOSOPHY - FOSTER Adriana Delice - 2020
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Cite this

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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. ",

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AB - 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.

KW - Protein degradation

KW - TBK1

KW - Cell Signalling

KW - Neurodegeneration

KW - Autophagy

KW - ALS

KW - p62

KW - FTLD

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DO - 10.26182/rjjz-cx61

M3 - Doctoral Thesis

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

Abstract

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