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Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system

Bhore, Noopur; Bogacki, Erin C; O'Callaghan, Benjamin; Plun-Favreau, Helene; Lewis, Patrick A; Herbst, Susanne; (2024) Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system. Philosophical Transactions of the Royal Society B: Biological Sciences , 379 (1899) , Article 20220517. 10.1098/rstb.2022.0517. Green open access

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Abstract

Parkinson's disease is a progressive neurological disorder, characterized by prominent movement dysfunction. The past two decades have seen a rapid expansion of our understanding of the genetic basis of Parkinson's, initially through the identification of monogenic forms and, more recently, through genome-wide association studies identifying common risk variants. Intriguingly, a number of cellular pathways have emerged from these analysis as playing central roles in the aetiopathogenesis of Parkinson's. In this review, the impact of data deriving from genome-wide analyses for Parkinson's upon our functional understanding of the disease will be examined, with a particular focus on examples of endo-lysosomal and mitochondrial dysfunction. The challenges of moving from a genetic to a functional understanding of common risk variants for Parkinson's will be discussed, with a final consideration of the current state of the genetic architecture of the disorder. This article is part of a discussion meeting issue 'Understanding the endo-lysosomal network in neurodegeneration'.

Type: Article
Title: Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1098/rstb.2022.0517
Publisher version: http://dx.doi.org/10.1098/rstb.2022.0517
Language: English
Additional information: This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third-party material in this article are included in the Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
Keywords: Parkinson's disease, endo-lysosomal, functional genomics, genome-wide association, Humans, Parkinson Disease, Genome-Wide Association Study, Genetic Predisposition to Disease, Risk Factors, Lysosomes
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10188270
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