DDX3X is a Cl--sensitive RNA helicase - PubMed
6 hours ago
- #RNA helicase
- #neurodevelopmental disorders
- #DDX3X
- DDX3X is a chloride-sensitive RNA helicase involved in stress granule assembly through biomolecular condensation.
- Chloride (Cl-) directly interacts with DDX3X's helicase core in the RNA binding region, impairing ATPase and helicase activities and disrupting condensation at physiological concentrations.
- In neuroblastoma cells, Cl- efflux leads to large, persistent stress granules containing DDX3X.
- The R326H mutation, linked to severe neurodevelopmental disorders, alters the Cl- binding site and impairs Cl--sensitive functions, offering insights into the mutation's molecular pathophysiology.