Beatriz Martínez–Delgado

This study investigates how Z-AAT accumulation in AATD models affects lipid metabolism, mitochondrial function, and organelle homeostasis, revealing impaired adaptive responses to lipid challenges.

The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.

The paper identifies a de novo EHMT2 mutation causing a Kleefstra-like syndrome by reducing enzyme activity and altering epigenetic profiles.