2026-06-21T22:32:22Zhttps://riubu.ubu.es/oai/requestoai:riubu.ubu.es:10259/87692024-03-08T01:05:26Zcom_10259_4219com_10259_5086com_10259_2604col_10259_4220
Repositorio Institucional de la Universidad de Burgos
author
Vittori, Angelica
author
Orth, Michael
author
Roos, Raymund A. C.
author
Outeiro, Tiago F.
author
Giorgini, Flaviano
author
Hollox, Edward J.
author
Cubo Delgado, Esther
author
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.
eng
Atribución 4.0 Internacional
Genetic modifier
Copy number variation
Inflammation
β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease
info:eu-repo/semantics/article
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URL
https://riubu.ubu.es/bitstream/10259/8769/1/Vittori-jhd_2013.pdf
File
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Vittori-jhd_2013.pdf