Author

Mario Santafe

Universidad Nacional de Educación a DistanciaORCID 0009-0002-0085-3671Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Cell Biology· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

D. MazzeoiD· 1 shared Déborah Gómez-Domínguez· 1 shared Diego Megı́asiD· 1 shared Ignacío Pérez de CastroiD· 1 shared Iván HernándeziD· 1 shared Kamel MamchaouiiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 15 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperCell Biology

D. MazzeoORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

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, Déborah Gómez-Domínguez, Diego Megı́as, Kamel Mamchaoui, 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.

bioRxiv · Aug 4, 2026 · PreprintCell Biology