https://scholars.lib.ntu.edu.tw/handle/123456789/634674
標題: | Homozygous mutation of the LRRK2 ROC domain as a novel genetic model of parkinsonism | 作者: | Chen, Meng-Ling RUEY-MEEI WU |
關鍵字: | Anxiety; Fission; GTPase activity; Gait; Homozygous; LRRK2; PET; Parkinsonism; R1441G | 公開日期: | 十二月-2022 | 卷: | 29 | 期: | 1 | 起(迄)頁: | 60 | 來源出版物: | Journal of biomedical science | 摘要: | Parkinson's disease (PD) is one of the most important neurodegenerative disorders in elderly people. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are found in a large proportion of the patients with sporadic and familial PD. Mutations can occur at different locations in the LRRK2. Patients with LRRK2 ROC-COR mutations face an increased risk of typical motor symptoms of PD, along with cognitive decline. An animal model with a monogenic LRRK2 gene mutation is a suitable model for exploring the pathophysiology of PD and identifying potential drug therapies. However, the effect of homozygous (HOM) LRRK2 in PD pathophysiology is unclear. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/634674 | ISSN: | 10217770 | DOI: | 10.1186/s12929-022-00844-9 |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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