核斑点的干扰：RNA 焦点、二肽重复和 C9ORF72 ALS/FTD 中剪接错误的联系。
Interference of nuclear speckles: A nexus of RNA foci, dipeptide repeats, and mis-splicing in C9ORF72 ALS/FTD.
机构信息
Department of Pharmacology and Toxicology, R. Ken Coit College of Pharmacy, University of Arizona, Tucson, AZ 85721, USA; Research Service, Department of Veteran Affairs Southern Arizona Health Care, Tucson, AZ 85723, USA.
出版信息
Neuron. 2024 Oct 23;112(20):3375-3377. doi: 10.1016/j.neuron.2024.10.001.
PMID:39447539
Abstract
In this issue of Neuron, Wu et al. 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.
摘要
在本期《神经元》杂志中，Wu 等人表明，核斑点蛋白被 C9ORF72-ALS/FTD 中的核 RNA 焦点和细胞质二肽重复聚集物隔离。因此，剪接失调会诱导广泛的剪接改变，并导致神经退行性变。
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