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Deregulated Splicing Is a Major Mechanism of RNA-Induced Toxicity in Huntington's Disease.剪接失调是亨廷顿病中 RNA 诱导毒性的主要机制。
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Neuronal identity genes regulated by super-enhancers are preferentially down-regulated in the striatum of Huntington's disease mice.由超级增强子调控的神经元身份基因在亨廷顿病小鼠的纹状体中优先下调。
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引用本文的文献

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Huntingtin interactome reveals huntingtin role in regulation of double strand break DNA damage response (DSB/DDR), chromatin remodeling and RNA processing pathways.亨廷顿相互作用组揭示了亨廷顿蛋白在双链断裂DNA损伤反应(DSB/DDR)、染色质重塑和RNA加工途径调控中的作用。
bioRxiv. 2024 Dec 27:2024.12.27.630542. doi: 10.1101/2024.12.27.630542.

本文引用的文献

1
Huntington's disease-specific mis-splicing unveils key effector genes and altered splicing factors.亨廷顿病特异性剪接揭示关键效应基因和改变的剪接因子。
Brain. 2021 Aug 17;144(7):2009-2023. doi: 10.1093/brain/awab087.
2
Deregulated Splicing Is a Major Mechanism of RNA-Induced Toxicity in Huntington's Disease.剪接失调是亨廷顿病中 RNA 诱导毒性的主要机制。
J Mol Biol. 2019 Apr 19;431(9):1869-1877. doi: 10.1016/j.jmb.2019.01.034. Epub 2019 Jan 31.
3
Single-cell RNAseq for the study of isoforms-how is that possible?单细胞 RNA 测序用于异构体研究——这怎么可能?
Genome Biol. 2018 Aug 10;19(1):110. doi: 10.1186/s13059-018-1496-z.
4
Transcriptome sequencing reveals aberrant alternative splicing in Huntington's disease.转录组测序揭示亨廷顿舞蹈病中异常的可变剪接。
Hum Mol Genet. 2016 Aug 15;25(16):3454-3466. doi: 10.1093/hmg/ddw187. Epub 2016 Jul 4.
5
The neurogenetics of alternative splicing.可变剪接的神经遗传学
Nat Rev Neurosci. 2016 May;17(5):265-81. doi: 10.1038/nrn.2016.27.
6
RNA mis-splicing in disease.疾病中的RNA错配剪接
Nat Rev Genet. 2016 Jan;17(1):19-32. doi: 10.1038/nrg.2015.3. Epub 2015 Nov 23.
7
Huntington's disease is a four-repeat tauopathy with tau nuclear rods.亨廷顿病是一种四重复tau 病,具有 tau 核棒。
Nat Med. 2014 Aug;20(8):881-5. doi: 10.1038/nm.3617. Epub 2014 Jul 20.
8
Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease.亨廷顿病中 HTT 的异常剪接导致致病外显子 1 蛋白的产生。
Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2366-70. doi: 10.1073/pnas.1221891110. Epub 2013 Jan 22.
9
Expansion of the eukaryotic proteome by alternative splicing.通过选择性剪接扩展真核生物蛋白质组。
Nature. 2010 Jan 28;463(7280):457-63. doi: 10.1038/nature08909.
10
Trinucleotide repeat disorders.三核苷酸重复序列疾病
Annu Rev Neurosci. 2007;30:575-621. doi: 10.1146/annurev.neuro.29.051605.113042.

亨廷顿病中的错剪接:利用比较转录组学的力量。

Mis-splicing in Huntington's disease: harnessing the power of comparative transcriptomics.

机构信息

Center for Computational and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Center for Computational and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Graduate Group in Genomics and Computational Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.

出版信息

Trends Neurosci. 2022 Feb;45(2):91-93. doi: 10.1016/j.tins.2021.10.009. Epub 2021 Nov 6.

DOI:10.1016/j.tins.2021.10.009
PMID:34753605
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10550193/
Abstract

A recent paper by Elorza et al. describes an 'intersect-RNA-seq' analysis of Huntington's disease (HD) by parallel RNA sequencing (RNA-seq) profiling of HD brain tissues from humans and mice. This work illustrates a broadly applicable strategy to elucidate splicing alterations in neurological diseases by integrating the transcriptome profiles of human patient tissues and animal models.

摘要

最近,Elorza 等人发表了一篇论文,描述了一种通过对人类和小鼠的亨廷顿病(HD)脑组织进行平行 RNA 测序(RNA-seq)分析来进行“交集 RNA-seq”分析的方法。这项工作通过整合人类患者组织和动物模型的转录组谱,说明了一种阐明神经疾病中剪接改变的广泛适用策略。