Article
Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling.
Molecular neurodegeneration - 19 Jan 2017
Berwick Daniel C, Javaheri Behzad, Wetzel Andrea, Hopkinson Mark, Nixon-Abell Jonathon, Grannò Simone, Pitsillides Andrew A, Harvey Kirsten
Abstract excerpt
BACKGROUND: LRRK2 mutations and risk variants increase susceptibility to inherited and idiopathic Parkinson's disease, while recent studies have identified potential protective variants. This, and the fact that LRRK2 mutation carriers develop symptoms and brain pathology almost indistinguishable from idiopathic Parkinson's disease, has led to enormous interest in this protein. LRRK2 has been implicated in a range...
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