Author
Consejo Superior de Investigaciones CientíficasORCID 0000-0002-3190-1958Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Marta Sevilla Porras, Esther Nieto-Molina, Zahara Medina…·Mireia del Toro
The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.
Francisco del Caño‐Ochoa, Marçal Vilar, Alicia Vilas…·Santiago Ramón‐Maiques
This study investigates the conformational flexibility of PMM2 using structural and simulation analyses, revealing dynamic states that inform pharmacological chaperone design.
Ainhoa Martínez‐Pizarro, Sara Picó, Arístides López‐Márquez…·Lourdes R. Desviat
This paper generates a partially humanized mouse model of PKU with the c.1066-11G>A PAH variant, showing splicing defects, metabolic imbalances, and neurological phenotypes.