肌萎缩侧索硬化
细胞内
亨廷顿蛋白
脊髓小脑共济失调
神经科学
脊髓性肌萎缩
神经退行性变
生物
疾病
亨廷顿蛋白
共济失调
医学
细胞生物学
亨廷顿病
病理
作者
Xing-Xing Chen,Enhao He,Chonglin Su,Yan Zeng,Jiang Xu
标识
DOI:10.3389/fnagi.2023.1100395
摘要
Huntingtin-associated protein 1 (HAP1), the first identified HTT-binding partner, is highly expressed in the central nervous system, and has been found to associated with neurological diseases. Mounting evidence suggests that HAP1 functions as a component of cargo-motor molecules to bind various proteins and participates in intracellular trafficking. It is known that the failure of intracellular transport is a key contributor to the progression of neurodegenerative disorders (NDs) including Alzheimer’s disease (AD), Huntington’s disease (HD), Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS), spinal and bulbar muscular atrophy (SBMA) and spinocerebellar ataxia (SCA). The link between HAP1 and various NDs is supported by growing evidence. This review aims to provide a comprehensive overview of the intracellular trafficking function of HAP1 and its involvement in NDs.
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