核斑点的干扰：C9ORF72 ALS/FTD中的RNA灶、二肽重复序列和错误剪接的联系。

IF 14.7 1区医学 Q1 NEUROSCIENCES

Neuron Pub Date : 2024-10-23 DOI:10.1016/j.neuron.2024.10.001

Haining Zhu

引用次数: 0

摘要

在本期《神经元》（Neuron）杂志上，Wu 等人1 发现，在 C9ORF72-ALS/FTD 中，核斑点蛋白被核 RNA 病灶和胞质二肽重复聚集体所封闭。因此，剪接失调会诱发广泛的剪接改变，并导致神经退行性变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Interference of nuclear speckles: A nexus of RNA foci, dipeptide repeats, and mis-splicing in C9ORF72 ALS/FTD.

In this issue of Neuron, Wu et al.¹ show that nuclear speckle proteins are sequestered by both nuclear RNA foci and cytoplasmic dipeptide repeat aggregates in C9ORF72-ALS/FTD. Consequently, dysregulation of splicing induces widespread splicing alterations and contributes to neurodegeneration.

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来源期刊

Neuron 医学-神经科学

CiteScore

24.50

自引率

3.10%

发文量

382

审稿时长

1 months

期刊介绍： Established as a highly influential journal in neuroscience, Neuron is widely relied upon in the field. The editors adopt interdisciplinary strategies, integrating biophysical, cellular, developmental, and molecular approaches alongside a systems approach to sensory, motor, and higher-order cognitive functions. Serving as a premier intellectual forum, Neuron holds a prominent position in the entire neuroscience community.