التفاصيل البيبلوغرافية
| العنوان: |
The Huntington's Disease Gene Discovery |
| المؤلفون: |
Franklin, Gustavo L., Teive, Hélio A.G., Tensini, Fernando Spina, Camargo, Carlos Henrique Ferreira, de Lima, Nayra de Souza Carvalho, de dos Santos, Diego de Castro, Meira, Alex T., Tabrizi, Sarah J. |
| المصدر: |
Movement Disorders ; volume 39, issue 2, page 227-234 ; ISSN 0885-3185 1531-8257 |
| بيانات النشر: |
Wiley |
| سنة النشر: |
2024 |
| المجموعة: |
Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: |
The gene for Huntington's disease (HD) was discovered in 1993, after an international collaborative initiative that led researchers to remote regions of South America. It was the most remarkable milestone, since George Huntington's initial description. Through the phenomenological discussions led by Jean‐Martin Charcot and Willian Osler, and finally Americo Negrette's reports, which served as the inspiration for the Venezuela Project led by Nancy Wexler, the journey toward discovering the Huntington's disease (HD) gene was marked by substantial efforts. This monumental achievement involved the analysis of more than 18,000 blood samples and gathered dozens of researchers in an integrated effort, enabling the mapping of the gene on chromosome 4 in 1983 and leading, a decade later, to the precise localization and identification of the HTT gene. The discovery of the HD mutation represented a pivotal moment in the field of genetics and neurology, significantly enhancing our understanding of the disease and creating opportunities for future treatments. The progress made and the knowledge gained during this journey catalyzed the development of many innovative molecular techniques that have advanced research in other medical conditions. In this article, the authors celebrate three decades of this memorable event, revisiting the historical aspects, providing insights into the techniques developed, and delving into the paths that ultimately led to the discovery of the HD gene. © 2024 International Parkinson and Movement Disorder Society. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1002/mds.29703 |
| الإتاحة: |
https://doi.org/10.1002/mds.29703Test |
| حقوق: |
http://onlinelibrary.wiley.com/termsAndConditions#vorTest |
| رقم الانضمام: |
edsbas.6D9C33FA |
| قاعدة البيانات: |
BASE |
