Author

Sheila Ramos-Del Saz

Instituto de Salud Carlos IIIORCID 0000-0002-4831-0353Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Beatriz Martínez–DelgadoiD· 2 shared Gema Gómez‐MarianoiD· 2 shared Javier AlonsoiD· 2 shared María J. BarreroiD· 2 shared Marta Fernández-PrietoiD· 2 shared Alan KádekiD· 1 shared Aleš Hnı́zdaiD· 1 shared Andrea GřegořováiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersMolecular Biology

Beatriz Martínez–DelgadoORCID

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2 papers

Recent·Most cited

Molecular BiologybioRxivPreprintAug 17, 2026

Z-AAT impairs organelle homeostasis and reduces adaptive response to lipids in alpha-1 antitrypsin deficiency models

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.

DOI 10.64898/2026.08.14.744823

humanproteomics

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GeneticsNature CommunicationsPeer-reviewedJul 1, 2026

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

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.

1 citation

humanDNA methylation

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