Author
Instituto de Salud Carlos IIIORCID 0000-0003-0682-5276Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Sara Gil-Martín, Nerea Matamala, Otto Hagen-Doval…·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.
Aleš Hnı́zda, Beatriz Martínez–Delgado, Diana Sánchez-Ponce…·Lenka Nosková
The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.
Beatriz Martínez–Delgado, Estrella López Martín, Jennifer Kerkhof…·María J. Barrero
The paper identifies a de novo EHMT2 mutation causing a Kleefstra-like syndrome by reducing enzyme activity and altering epigenetic profiles.