国家重点基础研究发展计划(973)(2004CB518601)和湖南省自然科学基金(09JJ4018)资助项目
This work was supported by grants from National Basic Research Program of China (2004CB518601) and Hunan Natural Science Foundation (09JJ4018)
帕金森病(Parkinson's disease,PD)是一种最常见的神经退行性运动障碍,常染色体显性遗传PD可由LRRK2基因的突变引起.总结了LRRK2功能研究的最新成果,分为分子遗传学、表达分布和亚细胞定位、突变体的功能、蛋白质化学、蛋白质动力学、相互作用蛋白和底物、信号传导途径、与突起和突触囊泡蛋白的关系、结构分析、病理和临床特征等10个方面进行论述.指出已有的研究初步阐明了LRRK2突变导致PD的发病机制,提出了治疗PD的新策略,并对未来研究进行展望.
Parkinson's disease (PD) is the most frequent progressive neurodegenerative movement disorder, and autosomal dominant inherited PD can be caused by LRRK2 mutations. The new findings of LRRK2's function were summarized and described in 10 aspects, such as molecular genetics, expressing distribution and subcellular localization, function of mutants, protein chemistry, protein dynamics, interacting protein and substrate, signal transduction pathway, connection with neurite and synaptic vesicles protein, structure analysis, pathological and clinic features. It was pointed out that these achievements have preliminarily clarified the pathogenic mechanism of how LRRK2 mutants cause PD, and presented the new strategies for treatment of PD. Finally, the future researches were previewed.
朱飞舟,夏昆.帕金森病中LRRK2的功能[J].生物化学与生物物理进展,2010,37(10):1059-1066
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