Molecular mechanisms of functional impairment for active site mutations in glucose-6-phosphatase catalytic subunit 1 linked to glycogen storage disease.
M. Sinclair, R. A. Stein, J. Sheehan, E. M. Hawes, R. M. O'Brien, E. Tajkhorshid, D. P. Claxton
This study identifies atomic interactions and energetic perturbations in G6PC1 active site mutations linked to glycogen storage disease type 1a using computational models and experimental validation.
bioRxiv · Mar 13, 2023Biophysics