Author

Melissa A. Castiglione

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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