Title

A numerical investigation into possible mechanisms by that the A629P mutant of ATP7A causes Menkes Disease

Document Type

Article

Publication Date

8-16-2010

Abstract

We study in silico possible mechanisms by that the A629P mutant of ATP7A causes Menkes Disease. Our results indicate that the mutation does not have appreciable affects on the stability of copper-bound states but rather destabilizes the characteristic end-to-end β-sheet. In this way, the mutation presumably increases the probability for aggregation and/or degradation leading to decreased concentration of the monomer.

Publisher's Statement

© 2010 Owner Societies. Publisher's version of record: http://dx.doi.org/10.1039/C003568H

Publication Title

Physical Chemistry Chemical Physics