Article
Clinical characteristics and pathophysiological properties of newly discovered LRRK2 variants associated with Parkinson's disease.
Neurobiology of disease - 1 Sept 2024
Tezuka Toshiki, Ishiguro Mayu, Taniguchi Daisuke, Osogaguchi Ehoto, Shiba-Fukushima Kahori, Ogata Jun, Ishii Ryota, Ikeda Aya, Li Yuanzhe, Yoshino Hiroyo, Matsui Taro, Kaida Kenichi, Funayama Manabu, Nishioka Kenya, Kumazawa Fumihisa, Matsubara Tomoyasu, Tsuda Hitoshi, Saito Yuko, Murayama Shigeo, Imai Yuzuru, Hattori Nobutaka
Abstract excerpt
Leucine-rich repeat kinase 2 (LRRK2) is the most common gene responsible for familial Parkinson's disease (PD). The gene product of LRRK2 contains multiple protein domains, including armadillo repeat, ankyrin repeat, leucine-rich repeat (LRR), Ras-of-complex (ROC), C-terminal of ROC (COR), kinase, and WD40 domains. In this study, we performed genetic screening of LRRK2 in our PD cohort, detecting sixteen LRRK2...
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