PolyQ数据库 - 一个综合的数据库关于多重质胺的疾病
Bernardo Estevam1,2, Carlos A Matos1,2, Clévio Nóbrega1,2
1ABC-Ri, Algarve Biomedical Center Research Institute, Campus de Gambelas, Faro 8005-139, Portugal.
Database : the journal of biological databases and curation
|August 21, 2023
概括
多重氨酸 (polyQ) 疾病是罕见的神经退行性疾病. 一个新的免费在线数据库集中了所有九种多Q疾病的信息,帮助研究人员和患者.
科学领域:
- 神经遗传学 神经遗传学
- 分子生物学分子生物学
- 罕见疾病 罕见疾病
背景情况:
- 多重氨酸 (polyQ) 疾病是九种罕见的单一性神经退行性疾病的一组.
- 这些条件是由于特定基因中的扩展的氨酸,氨酸,氨酸 (CAG) 三重重复导致的,导致蛋白质结构异常.
- 目前,没有治愈方法,信息在各种来源中分散.
研究的目的:
- 创建一个集中,免费的在线资源,提供所有九种多Q疾病的全面信息.
- 通过整合分散的数据来支持研究人员,临床医生,患者和家庭.
主要方法:
- 开发一个专门的在线平台,PolyQ数据库.
- 汇集涵盖流行病学,致病基因,蛋白质特征,病理生理学和临床表现的信息.
- 确保数据库不断更新和可扩展.
主要成果:
- 启动了PolyQ数据库 (https://polyq.pt/),作为第一个专注于所有9种polyQ疾病的平台.
- 它提供了一个统一的信息来源,与不同的受众相关.
- 该平台旨在持续更新和传播信息.
结论:
- PolyQ数据库解决了对这些罕见的神经退行性疾病的集中信息的关键需求.
- 本资源为科学和公共利益提供了对多Q疾病的更好的理解和探索.
- 该数据库旨在成为不断发展的PolyQ疾病知识中心.
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