Anne Mette G. Jensen, et al. – Aarhus University Department of Biomedicine.
This study explored the effects of a missense mutation of SORL1 found in 3 patients with family histories of AD. This mutation, p.Y1816C, impairs dimerization of the protein, limiting its trafficking to the cell surface. These effects, along with the inheritance pattern of AD associated with this mutation, lead the authors to suggest SORL1 should be considered the 4th gene associated with autosomal-dominant AD, joining APP, PSEN1, and PSEN2.
