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Updated: Jul 15, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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Msh3和Pms1设定了神经CAG重复迁移率,以驱动HD小鼠的选择性状和皮层病原体

Nan Wang, Shasha Zhang, Peter Langfelder

    bioRxiv : the preprint server for biology
    |July 19, 2024
    PubMed
    概括

    不匹配修复基因Msh3和Pms1通过减少DNA重复扩张在小鼠中显著减缓亨廷顿病 (HD) 的进展. 这为HD提供了潜在的治疗策略,通过准这些基因修饰剂来治疗HD.

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    相关概念视频

    Huntington Disease l: Introduction01:21

    Huntington Disease l: Introduction

    Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...