Molecular basis of Salla Disease: R39C Mutation Effects on the Lysosomal Transporter Sialin
Christos Matsingos, Isaure Lot, Malaury Vaz, Jade Mailliart, Meryam Boulayat, Cécile Debacker, Anne Lamy, Bruno Gasnier, Francine Acher, Christine Anne
This study investigates how the R39C mutation in sialin affects its lysosomal transport function by analyzing structural and dynamic changes in the protein.
bioRxiv · Apr 22, 2026 · PreprintBiochemistry