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
Truncating genetic variants of SORL1, encoding the endosome recycling receptor SORLA, have been accepted as causal of Alzheimer's disease (AD). However, most genetic variants observed in SORL1 are missense variants, for which it is complicated to determine th …
Truncating genetic variants of SORL1, encoding the endosome recycling receptor SORLA, have been accepted as causal of Alzheimer's …