Article
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.
Nature genetics - 1 Feb 2007
Rogaeva Ekaterina, Meng Yan, Lee Joseph H, Gu Yongjun, Kawarai Toshitaka, Zou Fanggeng, Katayama Taiichi, Baldwin Clinton T, Cheng Rong, Hasegawa Hiroshi, Chen Fusheng, Shibata Nobuto, Lunetta Kathryn L, Pardossi-Piquard Raphaelle, Bohm Christopher, Wakutani Yosuke, Cupples L Adrienne, Cuenco Karen T, Green Robert C, Pinessi Lorenzo, Rainero Innocenzo, Sorbi Sandro, Bruni Amalia, Duara Ranjan, Friedland Robert P, Inzelberg Rivka, Hampe Wolfgang, Bujo Hideaki, Song You-Qiang, Andersen Olav M, Willnow Thomas E, Graff-Radford Neill, Petersen Ronald C, Dickson Dennis, Der Sandy D, Fraser Paul E, Schmitt-Ulms Gerold, Younkin Steven, Mayeux Richard, Farrer Lindsay A, St George-Hyslop Peter
Abstract excerpt
The recycling of the amyloid precursor protein (APP) from the cell surface via the endocytic pathways plays a key role in the generation of amyloid beta peptide (Abeta) in Alzheimer disease. We report here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease. These variants, which occur in at least two different clusters of intronic sequences within the...
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