The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease
SORL1 p.Y1816C 变异会导致内体二聚化受损和常染色体显性遗传性阿尔茨海默病。
期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:9.1
doi:10.1073/pnas.2408262121
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; Lléo, Alberto; Bellini, Sonia; Ghidoni, Roberta; Hulsman, Marc; Petsko, Gregory A; Sleegers, Kristel; Bohaciakova, Dasa; Holstege, Henne; Andersen, Olav M
