A. G. McKee

This paper identifies an RNA structure in the CFTR transcript that promotes ribosomal frameshifting and premature termination, enhancing the function and pharmacological rescue of the misfolded {Delta}F508 CFTR variant.

The paper examines how mutations in unstable membrane proteins like GnRHR form distinct epistatic interactions depending on their destabilizing mechanisms and severity.

This study compares the effects of VX-661 and VX-445 on 129 CFTR variants using deep mutational scanning, finding distinct patterns of expression rescue based on variant destabilization and binding pocket locations.

This study identifies a chromenone derivative that stabilizes rod opsin mutants, rescues membrane trafficking in vitro, and protects photoreceptors in vivo in RP models.

This study uses deep mutational scanning to analyze how 123 pathogenic rhodopsin variants respond to 9-cis-retinal, identifying variants with diminished membrane expression and varying sensitivity to retinal.

This paper trains neural networks to predict how mutations affect plasma membrane expression of GPCRs, showing structural features alone can generalize across related proteins.

This study uses deep mutational scanning to analyze how temperature and retinal affect plasma membrane expression of rhodopsin variants, revealing correlations between mutation sites and sensitivity to these factors.