Eli Fritz McDonald

Deep Receptor Scanning Reveals General Sequence Constraints on GPCR Biosynthesis

The paper introduces a platform to characterize GPCR expression and uses machine learning to identify structural features affecting their biosynthesis.

Proteostasis Landscapes of Cystic Fibrosis Variants Reveals Drug Response Vulnerability

The paper uses proteomics and computational modeling to analyze CFTR variants, identifying structural vulnerabilities in NBD1 that limit corrector efficacy and suggesting secondary mutations as a therapeutic strategy.

General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants

This study investigates how calnexin modulates the expression and pharmacological rescue of CFTR variants using deep mutational scanning, revealing its role in CFTR assembly and variant-specific corrector responses.

The proteostasis interactomes of trafficking-deficient KV11.1 variants associated with Long QT Syndrome and pharmacological chaperone rescue

The paper identifies proteostasis interactomes of trafficking-deficient KV11.1 variants and shows pharmacological chaperone rescue of proteostasis network alterations in LQTS-associated variants.

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants

This study benchmarks AlphaMissense's ability to predict pathogenicity of CFTR missense variants using clinical and functional metrics, finding moderate correlations with some outcomes but limited utility for pharmacological response.

Structural comparative modeling of multi-domain ΔF508 CFTR

The paper uses Rosetta comparative modeling to generate structural models of ΔF508 CFTR and its variants, revealing how the mutation destabilizes the protein and how drugs like VX-809 stabilize it.