The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer’s disease - Jensen, Anne Mette G.; Raska, Jan; Fojtik, Petr; Monti, Giulia; Lunding, Melanie; Bartova, Simona; Pospisilova, Veronika; van der Lee, Sven J.; Van Dongen, Jasper; Bossaerts, Liene; Van Broeckhoven, Christine; Dols-Icardo, Oriol; et al. (Proceedings of the National Academy of Sciences - PNAS, 2024)
Keywords: Age; Aged; Alzheimer Disease - genetics; Alzheimer Disease - metabolism; Alzheimer Disease - pathology; Alzheimer's disease; Biological Sciences; Cell surface; Cytopathology; Dimerization; Endosomes; Endosomes - metabolism; Female; Genetic diversity; Genetic screening; Genetic variance; HEK293 Cells; Humans; LDL-Receptor Related Proteins - genetics; LDL-Receptor Related Proteins - metabolism; Localization; Male; Membrane Transport Proteins - genetics; Membrane Transport Proteins - metabolism; Middle Aged; Mutants; Mutation; Mutation, Missense; Neurodegenerative diseases; Pathogenicity; Pathogens; Pedigree; Physiological effects; Protein Multimerization; Protein Transport; Protein turnover; Receptors; dimerization; 3Fn-domain; SORL1-associated Alzheimer’s disease; retromer; SORLA