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http://hdl.handle.net/2445/174313
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DC Field | Value | Language |
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dc.contributor.author | Tazelaar, Gijs H. P. | - |
dc.contributor.author | Boeynaems, Steven | - |
dc.contributor.author | Decker, Mathias De | - |
dc.contributor.author | Povedano, Mònica | - |
dc.contributor.author | Assialioui, Abdelilah | - |
dc.contributor.author | Project MinE ALS Sequencing Consortium | - |
dc.date.accessioned | 2021-02-25T10:46:29Z | - |
dc.date.available | 2021-02-25T10:46:29Z | - |
dc.date.issued | 2020-01-01 | - |
dc.identifier.uri | http://hdl.handle.net/2445/174313 | - |
dc.description.abstract | Increasingly, repeat expansions are being identified as part of the complex genetic architecture of amyotrophic lateral sclerosis. To date, several repeat expansions have been genetically associated with the disease: intronic repeat expansions in C9orf72, polyglutamine expansions in ATXN2 and polyalanine expansions in NIPA1. Together with previously published data, the identification of an amyotrophic lateral sclerosis patient with a family history of spinocerebellar ataxia type 1, caused by polyglutamine expansions in ATXN1, suggested a similar disease association for the repeat expansion in ATXN1. We, therefore, performed a large-scale international study in 11 700 individuals, in which we showed a significant association between intermediate ATXN1 repeat expansions and amyotrophic lateral sclerosis (P = 3.33 × 10-7). Subsequent functional experiments have shown that ATXN1 reduces the nucleocytoplasmic ratio of TDP-43 and enhances amyotrophic lateral sclerosis phenotypes in Drosophila, further emphasizing the role of polyglutamine repeat expansions in the pathophysiology of amyotrophic lateral sclerosis. | - |
dc.format.extent | 13 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Oxford University Press (OUP) | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1093/braincomms/fcaa064 | - |
dc.relation.ispartof | Brain Communications, 2020, vol. 2, num.. 2 | - |
dc.relation.uri | https://doi.org/10.1093/braincomms/fcaa064 | - |
dc.rights | cc by-nc (c) Tazelaar, Gijs H. P. et al., 2020 | - |
dc.rights.uri | http://creativecommons.org/licenses/by-nc/3.0/es/ | * |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Esclerosi lateral amiotròfica | - |
dc.subject.classification | Genètica | - |
dc.subject.other | Amyotrophic lateral sclerosis | - |
dc.subject.other | Genetics | - |
dc.title | ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2021-02-25T09:44:17Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 32954321 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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fcaa064.pdf | 1.05 MB | Adobe PDF | View/Open |
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