BioinformaticsbioRxivPreprint
Structure-based mechanistic principles underlying the paradoxical effects of pathological RET mutations
Anna Fassler Bakhman, Michal Cohen, Rachel Kolodny, Mickey Kosloff
This study identifies structural mechanisms explaining how certain RET mutations cause both Hirschsprungs disease and MEN2A by disrupting protein structure and promoting dimerization.
DOI 10.1101/2024.12.26.630356