Article
Pathogenic LRRK2 mutations, through increased kinase activity, produce enlarged lysosomes with reduced degradative capacity and increase ATP13A2 expression.
Human molecular genetics - 1 Nov 2015
Henry Anastasia G, Aghamohammadzadeh Soheil, Samaroo Harry, Chen Yi, Mou Kewa, Needle Elie, Hirst Warren D
Abstract excerpt
Lysosomal dysfunction plays a central role in the pathogenesis of several neurodegenerative disorders, including Parkinson's disease (PD). Several genes linked to genetic forms of PD, including leucine-rich repeat kinase 2 (LRRK2), functionally converge on the lysosomal system. While mutations in LRRK2 are commonly associated with autosomal-dominant PD, the physiological and pathological functions of this kinase...
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