{"doi":"10.1093/braincomms/fcaa064","title":"<i>ATXN1</i> repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization","abstract":"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.","journal":"Brain Communications","year":2020,"id":65643,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":56,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9592,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":347568,"name":"Steven Boeynaems","orcid":"0000-0002-9705-9871","position":1,"is_corresponding":false},{"id":347569,"name":"Mathias De Decker","orcid":"0000-0002-0966-3770","position":2,"is_corresponding":false},{"id":347570,"name":"Joke J.F.A. van Vugt","orcid":"0000-0002-4161-4004","position":3,"is_corresponding":false},{"id":347571,"name":"Lindy Kool","orcid":"0000-0001-9941-7866","position":4,"is_corresponding":false},{"id":347572,"name":"H. 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