BiophysicsbioRxiv
Dynamic coupling of residues within proteins as a mechanistic foundation of many enigmatic pathogenic missense variants
N. J. Ose, B. M. Butler, A. Kumar…·S. B. Ozkan
The paper identifies a mechanism by which pathogenic missense variants disrupt dynamic coupling between protein residues and functional sites, explaining dysfunction in enzymes with distant mutations.
DOI 10.1371/journal.pcbi.1010006