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The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease.
Jensen AMG, Raska J, Fojtik P, Monti G, Lunding M, Bartova S, Pospisilova V, van der Lee SJ, Van Dongen J, Bossaerts L, Van Broeckhoven C, Dols-Icardo O, Lléo A, Bellini S, Ghidoni R, Hulsman M, Petsko GA, Sleegers K, Bohaciakova D, Holstege H, Andersen OM. Jensen AMG, et al. Proc Natl Acad Sci U S A. 2024 Sep 10;121(37):e2408262121. doi: 10.1073/pnas.2408262121. Epub 2024 Sep 3. Proc Natl Acad Sci U S A. 2024. PMID: 39226352