L444P Gba1 mutation increases formation and spread of α-synuclein deposits in mice injected with mouse α-synuclein pre-formed fibrils
dc.contributor.author | Migdalska-Richards, A | |
dc.contributor.author | Wegrzynowicz, M | |
dc.contributor.author | Harrison, IF | |
dc.contributor.author | Verona, G | |
dc.contributor.author | Bellotti, V | |
dc.contributor.author | Spillantini, MG | |
dc.contributor.author | Schapira, AHV | |
dc.date.accessioned | 2020-09-10T08:01:07Z | |
dc.date.issued | 2020-08-24 | |
dc.description.abstract | Parkinson disease is the most common neurodegenerative movement disorder, estimated to affect one in twenty-five individuals over the age of 80. Mutations in glucocerebrosidase 1 (GBA1) represent the most common genetic risk factor for Parkinson disease. The link between GBA1 mutations and α-synuclein accumulation, a hallmark of Parkinson disease, is not fully understood. Following our recent finding that Gba1 mutations lead to increased α-synuclein accumulation in mice, we have studied the effects of a single injection of mouse α-synuclein pre-formed fibrils into the striatum of Gba1 mice that carry a L444P knock-in mutation. We found significantly greater formation and spread of α-synuclein inclusions in Gba1-transgenic mice compared to wild-type controls. This indicates that the Gba1 L444P mutation accelerates α-synuclein pathology and spread. | en_GB |
dc.description.sponsorship | Parkinson’s UK | en_GB |
dc.description.sponsorship | Medical Research Council (MRC) | en_GB |
dc.description.sponsorship | National Institute for Health Research (NIHR) | en_GB |
dc.identifier.citation | Vol. 15 (8), article e0238075 | en_GB |
dc.identifier.doi | 10.1371/journal.pone.0238075 | |
dc.identifier.grantnumber | G-1403 | en_GB |
dc.identifier.grantnumber | G-1704 | en_GB |
dc.identifier.grantnumber | MR/M006646/1 | en_GB |
dc.identifier.grantnumber | MR/N028651/1 | en_GB |
dc.identifier.uri | http://hdl.handle.net/10871/122808 | |
dc.language.iso | en | en_GB |
dc.publisher | Public Library of Science | en_GB |
dc.relation.url | https://www.ncbi.nlm.nih.gov/pubmed/32833982 | en_GB |
dc.rights | © 2020 Migdalska‐Richards et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. | en_GB |
dc.title | L444P Gba1 mutation increases formation and spread of α-synuclein deposits in mice injected with mouse α-synuclein pre-formed fibrils | en_GB |
dc.type | Article | en_GB |
dc.date.available | 2020-09-10T08:01:07Z | |
exeter.place-of-publication | United States | en_GB |
dc.description | This is the final version. Available on open access from the Public Library of Science via the DOI in this record | en_GB |
dc.description | Data Availability: All relevant data are within the manuscript and its Supporting Information files | en_GB |
dc.identifier.eissn | 1932-6203 | |
dc.identifier.journal | PLoS One | en_GB |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | en_GB |
dcterms.dateAccepted | 2020-08-07 | |
rioxxterms.version | VoR | en_GB |
rioxxterms.licenseref.startdate | 2020-08-07 | |
rioxxterms.type | Journal Article/Review | en_GB |
refterms.dateFCD | 2020-09-10T07:59:00Z | |
refterms.versionFCD | VoR | |
refterms.dateFOA | 2020-09-10T08:01:11Z | |
refterms.panel | A | en_GB |
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Except where otherwise noted, this item's licence is described as © 2020 Migdalska‐Richards et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.