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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.

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。

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The neurogenetics of alternative splicing.可变剪接的神经遗传学
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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.

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