Article
Comprehensive mapping of cystic fibrosis mutations to CFTR protein identifies mutation clusters and molecular docking predicts corrector binding site.
Proteins - 1 Aug 2018
Molinski Steven V, Shahani Vijay M, Subramanian Adithya S, MacKinnon Stephen S, Woollard Geoffrey, Laforet Marcon, Laselva Onofrio, Morayniss Leonard D, Bear Christine E, Windemuth Andreas
Abstract excerpt
Cystic Fibrosis (CF) is caused by mutations in the CFTR gene, of which over 2000 have been reported to date. Mutations have yet to be analyzed in aggregate to assess their distribution across the tertiary structure of the CFTR protein, an approach that could provide valuable insights into the structure-function relationship of CFTR. In addition, the binding site of Class I correctors (VX-809, VX-661, and C18) is...
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