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Tazelaar, Gijs H P; Boeynaems, Steven; De Decker, Mathias; van Vugt, Joke J F A; Kool, Lindy; Goedee, H Stephan; McLaughlin, Russell L; Sproviero, William; Iacoangeli, Alfredo; Moisse, Matthieu; Jacquemyn, Maarten; Daelemans, Dirk; Dekker, Annelot M; van der Spek, Rick A; Westeneng, Henk-Jan; Kenna, Kevin P; Assialioui, Abdelilah; Da Silva, Nica; Akçimen, Fulya; Al Khleifat, Ahmad; Al-Chalabi, Ammar; Andersen, Peter; Basak, A Nazli; Bauer, Denis C; [...]

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

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  • Medientyp: E-Artikel
  • Titel: ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization
  • Beteiligte: Tazelaar, Gijs H P; Boeynaems, Steven; De Decker, Mathias; van Vugt, Joke J F A; Kool, Lindy; Goedee, H Stephan; McLaughlin, Russell L; Sproviero, William; Iacoangeli, Alfredo; Moisse, Matthieu; Jacquemyn, Maarten; Daelemans, Dirk; Dekker, Annelot M; van der Spek, Rick A; Westeneng, Henk-Jan; Kenna, Kevin P; Assialioui, Abdelilah; Da Silva, Nica; Akçimen, Fulya; Al Khleifat, Ahmad; Al-Chalabi, Ammar; Andersen, Peter; Basak, A Nazli; Bauer, Denis C; [...]
  • Erschienen: Oxford University Press (OUP), 2020
  • Erschienen in: Brain Communications
  • Sprache: Englisch
  • DOI: 10.1093/braincomms/fcaa064
  • ISSN: 2632-1297
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title> <jats:p>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.</jats:p>
  • Zugangsstatus: Freier Zugang