Francisco del Caño‐Ochoa

This paper characterizes DO1Cas9, a cold-adapted Cas9 nuclease from the deep ocean, showing improved activity under cold conditions and broader organismal applicability.

This study investigates the conformational flexibility of PMM2 using structural and simulation analyses, revealing dynamic states that inform pharmacological chaperone design.

This study identifies pathogenic CAD mutations that disrupt oligomerization, showing their impact on enzymatic activity and nucleotide synthesis.

The paper identifies functional and structural defects in Gemin5 variants linked to neurodevelopmental disorders, showing impaired dimerization and protein instability.

The paper develops a cell-based assay to identify pathogenic CAD variants and identifies 11 individuals likely to benefit from uridine therapy.