Some Mendelian Disorders could be fixed with a pill? A Structural Bioinformatic investigation
Pietro Bongini, Daniele Iovinelli, Alfonso Trezza, Monica Bianchini, Ottavia Spiga, Simone Gardini, Neri Niccolai
The paper investigates Gly mutations in Mendelian disorders using ClinVar data, finding that bulky hydrophobic amino acid substitutions reduce protein stability and that Gly mutations may create binding pockets targetable for drug development.
bioRxiv · Oct 20, 2022 · PreprintBioinformatics