Article
The LRRK2 G2385R variant is a partial loss-of-function mutation that affects synaptic vesicle trafficking through altered protein interactions.
Scientific reports - 14 Jul 2017
Carrion Maria Dolores Perez, Marsicano Silvia, Daniele Federica, Marte Antonella, Pischedda Francesca, Di Cairano Eliana, Piovesana Ester, von Zweydorf Felix, Kremmer Elisabeth, Gloeckner Christian Johannes, Onofri Franco, Perego Carla, Piccoli Giovanni
Abstract excerpt
Mutations in the Leucine-rich repeat kinase 2 gene (LRRK2) are associated with familial Parkinson's disease (PD). LRRK2 protein contains several functional domains, including protein-protein interaction domains at its N- and C-termini. In this study, we analyzed the functional features attributed to LRRK2 by its N- and C-terminal domains. We combined TIRF microscopy and synaptopHluorin assay to visualize synaptic...
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