A familial missense variant in the Alzheimer's Disease gene SORL1 impairs its maturation and endosomal sorting.
Elnaz Fazeli, Daniel D. Child, Stephanie A. Bucks, Miki Stovarsky, Gabrielle Edwards, Shannon E. Rose, Chang‐En Yu, Caitlin S. Latimer, Yu Kitago, Thomas D. Bird, Suman Jayadev, Olav M. Andersen, Jessica E. Young
The paper identifies a pathogenic SORL1 variant, p.R953C, associated with Alzheimer's Disease and shows it impairs protein maturation and endosomal sorting.
Acta Neuropathologica · Jan 20, 2024Peer-reviewedNeuroscience