Neutrophil elastase: Nonsense lost in translation

摘要

In this issue of Cell Stem Cell, Daniel Bauer and colleagues investigate the pathogenesis of ELANE-associated severe congenital neutropenia (SCN) and describe two potentially universal gene correction strategies for autosomal dominant disorders (Rao et al., 2021). One exploits nonsense-mediated decay to prevent translation of the mutant allele. The other unexpectedly blocks translation by shortening the 3'-UTR.