Open access
Aug 2026
A KDM5 variant outside the catalytic Jumonji C domain disrupts demethylase activity and alters the proximity interactome.
Findings show that KDM5-dependent transcriptional regulation cannot be explained by demethylase activity alone and support altered chromatin regulatory interactions as a key mechanism underlying pathogenic KDM5 variants.
Melissa A. Castiglione, Matanel Yheskel, Aubrey A Siebels et al.
· G3 · 1 citation