内含子变异通过破坏分支点序列增加帕金森病风险

IF 12.5 1区生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Nature Structural & Molecular Biology Pub Date : 2025-01-02 DOI:10.1038/s41594-024-01424-1

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引用次数: 0

摘要

非洲血统的人特有的基因变异增加了患神经退行性疾病的风险，如帕金森病（PD）。这种变异发生在非编码区，干扰mRNA转录物的剪接，导致蛋白质水平和活性降低。这项工作揭示了一个新的治疗目标，在一个服务不足和代表性不足的人群。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Intronic variant increases Parkinson disease risk by disrupting branchpoint sequence

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Intronic variant increases Parkinson disease risk by disrupting branchpoint sequence

A genetic variant specific to people of African ancestry increases the risk of neurodegenerative diseases, such as Parkinson disease (PD). This variant occurs in a noncoding region and interferes with the splicing of mRNA transcripts, resulting in lowered protein levels and activity. This work reveals a novel therapeutic target in an underserved and underrepresented population.

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来源期刊

Nature Structural & Molecular Biology BIOCHEMISTRY & MOLECULAR BIOLOGY-BIOPHYSICS

CiteScore

22.00

自引率

1.80%

发文量

160

审稿时长

3-8 weeks

期刊介绍： Nature Structural & Molecular Biology is a comprehensive platform that combines structural and molecular research. Our journal focuses on exploring the functional and mechanistic aspects of biological processes, emphasizing how molecular components collaborate to achieve a particular function. While structural data can shed light on these insights, our publication does not require them as a prerequisite.