Article
ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function.
Human molecular genetics - 1 May 2017
Demirsoy S, Martin S, Motamedi S, van Veen S, Holemans T, Van den Haute C, Jordanova A, Baekelandt V, Vangheluwe P, Agostinis P
Abstract excerpt
ATP13A2 (also called PARK9), is a transmembrane endo-/lysosomal-associated P5 type transport ATPase. Loss-of-function mutations in ATP13A2 result in the Kufor-Rakeb Syndrome (KRS), a form of autosomal Parkinson's disease (PD). In spite of a growing interest in ATP13A2, very little is known about its physiological role in stressed cells. Recent studies suggest that the N-terminal domain of ATP13A2 may hold key...
Topics
- Autophagy
- Cell Line, Tumor
- Endosomes
- Humans
- Lysosomes
- Mutation
- Parkinson Disease
- Parkinsonian Disorders
- Phosphatidylinositol Phosphates
- Protein Transport