A rational free energy-based approach to understanding and targeting disease-causing missense mutations.

CONCLUSIONS: This observation is used to demonstrate, computationally and experimentally, that a particular condition, Snyder-Robinson syndrome caused by the G56S spermine synthase mutation, might be ameliorated by small molecule binding.
PMID: 23408511 [PubMed - as supplied by publisher]

Source: Journal of the American Medical Informatics Association - February 13, 2013 Category: Information Technology Authors: Zhang Z, Witham S, Petukh M, Moroy G, Miteva M, Ikeguchi Y, Alexov E Tags: J Am Med Inform Assoc Source Type: research