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

Zhe Zhang; Shawn Witham; Marharita Petukh; Gautier Moroy; Maria Miteva; Yoshihiko Ikeguchi; Emil Alexov

doi:10.1136/amiajnl-2012-001505

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

Authors

Zhang, Zhe^{1, 2}
Witham, Shawn²
Petukh, Marharita²
Moroy, Gautier¹
Maria Miteva¹
Ikeguchi, Yoshihiko³
Alexov, Emil²

¹ Molécules Thérapeutiques In Silico, Inserm UMR-S 973, Université Paris Diderot, Sorbonne Paris Cité, Paris, France
² Computational Biophysics and Bioinformatics, Department of Physics, Clemson University, Clemson, South Carolina, USA
³ Faculty of Pharmaceutical Sciences, Josai University, Tokyo, Japan

Type

Published Article

Journal

Journal of the American Medical Informatics Association

Publisher

Oxford University Press

Publication Date

Jun 15, 2013

Volume

20

Issue

4

Pages

643–651

Identifiers

DOI: 10.1136/amiajnl-2012-001505

PMID: 23408511

Source

USPC - SET - SVS

Keywords

License

Green

Abstract

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.

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine. This record was last updated on 03/16/2020 and may not reflect the most current and accurate biomedical/scientific data available from NLM. The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/23408511

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