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dc.contributor.authorVittori, Angelica
dc.contributor.authorOrth, Michael
dc.contributor.authorRoos, Raymund A. C.
dc.contributor.authorOuteiro, Tiago F.
dc.contributor.authorGiorgini, Flaviano
dc.contributor.authorHollox, Edward J.
dc.contributor.authorCubo Delgado, Esther 
dc.contributor.authorREGISTRY investigators of the European Huntington's Disease Network
dc.date.accessioned2024-03-07T08:22:58Z
dc.date.available2024-03-07T08:22:58Z
dc.date.issued2013
dc.identifier.issn1879-6397
dc.identifier.urihttp://hdl.handle.net/10259/8769
dc.description.abstractHuntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG triplet repeat tract in the huntingtin gene. While the length of this CAG expansion is the major determinant of the age of onset (AO), other genetic factors have also been shown to play a modulatory role. Recent evidence suggests that neuroinflammation is a pivotal factor in the pathogenesis of HD, and that targeting this process may have important therapeutic ramifications. The human β-defensin 2 (hBD2) – encoded by DEFB4 – is an antimicrobial peptide that exhibits inducible expression in astrocytes during inflammation and is an important regulator of innate and adaptive immune response. Therefore, DEFB4 may contribute to the neuroinflammatory processes observed in HD.en
dc.description.sponsorshipThe authors thank contributors to the EHDN Registry study, listed in Appendix 1. AV is supported by Fundac¸ao para Ci ˜ enci ˆ aeaTecnologia (SFRH/ BD/4764/2008). TFO was supported by an EMBO Installation Grant and a Marie Curie International Reintegration Grant (Neurofold). FG was supported by a New Investigator Research Grant from the Medical Research Council (G0700090). EJH was supported by a New Investigator Research Grant from the Medical Research Council (GO801123).en
dc.format.mimetypeapplication/pdf
dc.language.isoenges
dc.publisherIOS Pressen
dc.relation.ispartofJournal of Huntington's Disease. 2013, V. 2, n. 1, p. 107-124en
dc.rightsAtribución 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectGenetic modifieren
dc.subjectCopy number variationen
dc.subjectInflammationen
dc.subject.otherSistema nervioso-Enfermedadeses
dc.subject.otherNervous system-Diseasesen
dc.subject.otherMedicinaes
dc.subject.otherMedicineen
dc.titleβ-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Diseaseen
dc.typeinfo:eu-repo/semantics/articlees
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses
dc.relation.publisherversionhttps://content.iospress.com/articles/journal-of-huntingtons-disease/jhd130047es
dc.identifier.doi10.3233/JHD-130047
dc.journal.titleJournal of Huntington's Diseaseen
dc.volume.number2es
dc.issue.number1es
dc.page.initial107es
dc.page.final124es
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersiones


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