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. Author manuscript; available in PMC: 2022 Nov 18.
Published in final edited form as: Mol Cell. 2021 Oct 28;81(22):4635–4649.e8. doi: 10.1016/j.molcel.2021.08.017

Figure 6. Disease-associated mutations of ATP13A2 and functional importance of CTE.

Figure 6.

(A) Positions of disease-associated missense mutations (colored spheres) were mapped onto the ATP13A2 E2P structure. Magenta, mutations that potentially cause protein folding defects. Orange, mutations that potentially alter the D508-phosphorylation reaction (T512I) or P-N interdomain interaction (G517V). Cyan, mutations of unknown mechanisms. Q1135X is also indicated (gray sphere). See also Table S2. (B) Spermine-induced ATPase stimulation of microsomes overexpressing WT ATP13A2 and the ΔNTD, ΔCTE, and D508N (control) mutants (means and s.e.m.). Lines are fitted dose-response curves.