2026-05-07T09:28:14Zhttps://riubu.ubu.es/oai/request

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

Vittori, Angelica Orth, Michael Roos, Raymund A. C. Outeiro, Tiago F. Giorgini, Flaviano Hollox, Edward J. Cubo Delgado, Esther REGISTRY investigators of the European Huntington's Disease Network 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