In silico and functional characterisation of an ultra-rare CFTR mutation identifies novel lasso motif interactions regulating channel gating
Sharon L. Wong, Nikhil T Awatade, Miro A. Astore, Katelin M. Allan, Michael J. Carnell, Iveta Šlapetová, Po‐Chia Chen, Alexander Capraro, Laura Katherine Fawcett, Renee Megan Whan, Renate Griffith, Chee Yee Ooi, Serdar Kuyucak B, Adam Jaffé, Shafagh A. Waters
The paper functionally and structurally characterizes an ultra-rare CFTR mutation, showing it responds to specific potentiators and correctors, with altered lasso motif interactions affecting channel gating.
bioRxiv · Dec 12, 2021 · PreprintMolecular Biology