Article
Phase Separation as a Missing Mechanism for Interpretation of Disease Mutations.
Cell - 23 Dec 2020
Tsang Brian, Pritišanac Iva, Scherer Stephen W, Moses Alan M, Forman-Kay Julie D
Abstract excerpt
It is unclear how disease mutations impact intrinsically disordered protein regions (IDRs), which lack a stable folded structure. These mutations, while prevalent in disease, are frequently neglected or annotated as variants of unknown significance. Biomolecular phase separation, a physical process often mediated by IDRs, has increasingly appreciated roles in cellular organization and regulation. We find that...
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