Functional and structural deficiencies of Gemin5 variants associated with neurological disease
Rosario Francisco‐Velilla, Azman Embarc Buh, Francisco del Caño‐Ochoa, Salvador Abellan, Marçal Vilar, Sara Álvarez, Alberto Fernández‐Jaén, Sukhleen Kour, Deepa Soundara Rajan, Udai Bhan Pandey, Santiago Ramón‐Maiques, Encarnación Martı́nez-Salas
The paper identifies functional and structural defects in Gemin5 variants linked to neurodevelopmental disorders, showing impaired dimerization and protein instability.
bioRxiv · Jan 25, 2022 · PreprintMolecular Biology