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oai:riubu.ubu.es:10259/87692024-03-08T01:05:26Zcom_10259_4219com_10259_5086com_10259_2604col_10259_4220

Vittori, Angelica 823533e8-2b3e-49bf-a846-63c3782df9be 600 Orth, Michael 21d991bf-da76-40c4-a88f-aad7436be6e6 600 Roos, Raymund A. C. d3cb78a0-e6cb-4438-8037-c1a5c4f9a889 600 Outeiro, Tiago F. 5bf46644-c543-4f50-83d3-2551a4514173 600 Giorgini, Flaviano 8d0fe896-b450-4092-998f-501359acfcec 600 Hollox, Edward J. 71a70f82-f1c1-4a7d-af72-4c2d0d2ab9e7 600 Cubo Delgado, Esther 131 600 0000-0003-0018-1182 REGISTRY investigators of the European Huntington's Disease Network e1e01874-0f5b-4401-94c7-c848893348be 600 2024-03-07T08:22:58Z 2024-03-07T08:22:58Z 2013 1879-6397 http://hdl.handle.net/10259/8769 10.3233/JHD-130047 Huntington'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. The 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). application/pdf eng IOS Press Journal of Huntington's Disease. 2013, V. 2, n. 1, p. 107-124 https://content.iospress.com/articles/journal-of-huntingtons-disease/jhd130047 Atribución 4.0 Internacional http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess Genetic modifier Copy number variation Inflammation Sistema nervioso-Enfermedades Medicina Nervous system-Diseases Medicine β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Journal of Huntington's Disease 2 1 107 124 THUMBNAIL Vittori-jhd_2013.pdf.jpg Vittori-jhd_2013.pdf.jpg IM Thumbnail image/jpeg 3528 https://riubu.ubu.es/bitstream/10259/8769/4/Vittori-jhd_2013.pdf.jpg 7764a58d6265e96124a53465369fd4fa MD5 4 LICENSE license.txt license.txt text/plain; charset=utf-8 999 https://riubu.ubu.es/bitstream/10259/8769/3/license.txt b295bcbce42e2caabeb0c623d3860c06 MD5 3 CC-LICENSE license_rdf license_rdf application/rdf+xml; charset=utf-8 908 https://riubu.ubu.es/bitstream/10259/8769/2/license_rdf 0175ea4a2d4caec4bbcc37e300941108 MD5 2 ORIGINAL Vittori-jhd_2013.pdf Vittori-jhd_2013.pdf application/pdf 164095 https://riubu.ubu.es/bitstream/10259/8769/1/Vittori-jhd_2013.pdf d5f838314c0b69008beb1a03f5c8f92f MD5 1 10259/8769 oai:riubu.ubu.es:10259/8769 2024-03-08 02:05:26.457 Repositorio Institucional de la Universidad de Burgos bubrep@ubu.es RWwgYXV0b3IgY29tbyDDum5pY28gdGl0dWxhciBkZSBsb3MgZGVyZWNob3MgZGUgcHJvcGllZGFkIGludGVsZWN0dWFsIGRlIGxhIG9icmEsIG8gZGlzcG9uaWVuZG8gZGUgbG9zIGRlYmlkb3MgcGVybWlzb3MgZGUgbG9zIG90cm9zIHRpdHVsYXJlcywgc2kgbG9zIGh1YmllcmEsIHkgZW4gdmlydHVkIGRlIGxvcyBkZXJlY2hvcyBxdWUgbGUgY29uZmllcmUgbGEgbGVnaXNsYWNpw7NuIHZpZ2VudGUgc29icmUgcHJvcGllZGFkIGludGVsZWN0dWFsIHkgZGVyZWNob3MgZGUgYXV0b3IsIA0KQVVUT1JJWkEgYSBsYSBVbml2ZXJzaWRhZCBkZSBCdXJnb3MgYSBkaWZ1bmRpciwgZGUgbWFuZXJhIGdyYXR1aXRhLCBlbCBjb250ZW5pZG8gZGUgbG9zIGFyY2hpdm9zIGRpZ2l0YWxlcyBxdWUgY29ycmVzcG9uZGVuIGFsIGRvY3VtZW50byBkZXNjcml0byBhbnRlcmlvcm1lbnRlLCBjb24gY2Fyw6FjdGVyIG5vIGV4Y2x1c2l2byB5IGRlIG1hbmVyYSBww7pibGljYSBlbiBhY2Nlc28gYWJpZXJ0byBhIHRyYXbDqXMgZGUgSW50ZXJuZXQsIHBhcmEgbG8gcXVlIGxhIEJpYmxpb3RlY2EgcHJvY2VkZXLDoSBhIGFyY2hpdmFybG9zIGVuIGVsIFJlcG9zaXRvcmlvIEluc3RpdHVjaW9uYWwuIEFzaW1pc21vIGF1dG9yaXphIGEgbGEgVW5pdmVyc2lkYWQgZGUgQnVyZ29zIGEgcmVhbGl6YXIgbGFzIHRyYW5zZm9ybWFjaW9uZXMgbmVjZXNhcmlhcyBkZSBmb3JtYXRvLCBubyBkZSBjb250ZW5pZG8sIHBhcmEgZ2FyYW50aXphciBsYSBwcmVzZXJ2YWNpw7NuIHkgZWwgYWNjZXNvIGVuIGVsIGZ1dHVyby4NCg0KRWwgYXV0b3IgZGlzcG9uZSwgZW4gdG9kbyBjYXNvLCBkZWwgZGVyZWNobyBhIHJldm9jYXIgZXN0YSBhdXRvcml6YWNpw7NuLg0KDQpMYSBjZXNpw7NuIGRlIGRlcmVjaG9zIGRlIGVzdGEgb2JyYSBzZSBlbmN1ZW50cmEgc3VqZXRhIGEgbGEgbGVnaXNsYWNpw7NuIHZpZ2VudGUgc29icmUgcHJvcGllZGFkIGludGVsZWN0dWFsIHkgZGVyZWNob3MgZGUgYXV0b3Iu