Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease
A. Rovelet-Lecrux, S. Feuillette, L. Miguel, C. Schramm, S. Pernet, I. Segalas-Milazzo, L. Guilhaudis, S. Rousseau, G. Riou, T. Frebourg, D. Campion, G. Nicolas, M. Lecourtois
This paper identifies SORL1 missense variants that impair SorLA maturation and trafficking, leading to increased Aβ secretion and linking these variants to Alzheimer's disease pathophysiology.
bioRxiv · Jun 18, 2021Cell Biology