相关实验视频

Updated: Jul 8, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

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致病性TDP-43在亨廷顿病的试验小鼠中加快了有毒外子1 HTT的生成

Dazhang Bai1,2, Fuyu Deng1,3, Qingqing Jia1

  • 1State Key Laboratory of Bioactive Molecules and Druggability Assessment, Guangdong Key Laboratory of non-human Primate Research, Guangdong-Hongkong-Macau Institute of CNS Regeneration, Jinan University, Guangzhou, Guangdong, China.

Aging cell
|August 26, 2024
PubMed
概括

亨廷顿病 (HD) 模型中的细胞质TDP-43积累加剧了运动缺陷. 这种错位的TDP-43结合了Htt前mRNA,促进了有毒蛋白质的产生,并导致了HD的发病.

关键词:
亨廷顿病就是亨廷顿病.在TDP-43中.异常的拼接方式错位化的错位化

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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,...