Author

D. Mazzeo

Instituto de Salud Carlos IIIORCID 0009-0003-9425-7711Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 1 Research Focus:cell-cell communication· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1

Frequent Co-Authors

Déborah Gómez-Domínguez· 1 shared Diego Megı́asiD· 1 shared Ignacío Pérez de CastroiD· 1 shared Iván HernándeziD· 1 shared Kamel MamchaouiiD· 1 shared Mario SantafeiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 15 mutual co-author links

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1 shared paperCell Biology

Déborah Gómez-Domínguez

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1 paper

Recent·Most cited

Cell BiologybioRxivPreprintAug 4, 2026

Adenine base editing correction of LMNA c.745C>T (p.R249W) in congenital muscular dystrophy myoblasts improves cellular phenotype while revealing deleterious p.L248P bystander effects

Mario Santafe, Iván Hernández, D. Mazzeo…·Ignacío Pérez de Castro

This study uses adenine base editing to correct the LMNA c.745C>T mutation in myoblasts, showing improved cellular phenotype but also revealing harmful bystander mutations.

DOI 10.64898/2026.08.03.742539

humanexperimental assay

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