Ava Domson

A yeast model for the functional analysis of SRP54 mutations associated with severe congenital neutropenia

Mutations in the human SRP54 gene are linked to the pathophysiology of severe congenital neutropenia (SCN). SRP54 is a key protein comprising one of the six protein subunits of the signal recognition particle responsible for cotranslational targeting of proteins to the ER. Crysta...