Author
Centre for Biomedical Network Research on Rare DiseasesORCID 0000-0002-2073-2810Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Iris Lodewijk, Carolina Rubio, Pontus Eriksson…·Marta Dueñas
This study identifies CD44v6 as a driver of bladder cancer aggressiveness and chemoresistance, linking its expression to poor patient outcomes and therapeutic resistance.
Sara Fañanas-Baquero, Oscar Quintana Bustamante, Daniel P. Dever…·Jose Carlos Segovia
This study uses gene editing in hematopoietic stem cells to treat Pyruvate Kinase Deficiency Hemolytic Anemia, restoring RPK function and ATP levels in erythroid cells.
María José Pino-Barrio, Yari A. Gimenez, M Villanueva…·Susana Navarro
This paper demonstrates efficient gene editing in FA mouse models using TALENs and a donor template at a safe harbor locus, achieving phenotypic correction of FA cells.