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

作者：Kouza Maksim; Gowtham S; Seel Max; Hansmann Ulrich H E^*

来源：Physical Chemistry Chemical Physics, 2010, 12(37): 11390-11397.

DOI：10.1039/c003568h

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 b-sheet. In this way, the mutation presumably increases the probability for aggregation and/or degradation leading to decreased concentration of the monomer.

• 出版日期2010