Cell BiologybioRxiv
Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease
A. Rovelet-Lecrux, S. Feuillette, L. Miguel…·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.
DOI 10.1186/s40478-021-01294-4