The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.
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The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. / 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; Peter, St George-Hyslop.
In: NAT GENET, Vol. 39, No. 2, 2, 2007, p. 168-177.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.
AU - Rogaeva, Ekaterina
AU - Meng, Yan
AU - Lee, Joseph H
AU - Gu, Yongjun
AU - Kawarai, Toshitaka
AU - Zou, Fanggeng
AU - Katayama, Taiichi
AU - Baldwin, Clinton T
AU - Cheng, Rong
AU - Hasegawa, Hiroshi
AU - Chen, Fusheng
AU - Shibata, Nobuto
AU - Lunetta, Kathryn L
AU - Pardossi-Piquard, Raphaelle
AU - Bohm, Christopher
AU - Wakutani, Yosuke
AU - Cupples, L Adrienne
AU - Cuenco, Karen T
AU - Green, Robert C
AU - Pinessi, Lorenzo
AU - Rainero, Innocenzo
AU - Sorbi, Sandro
AU - Bruni, Amalia
AU - Duara, Ranjan
AU - Friedland, Robert P
AU - Inzelberg, Rivka
AU - Hampe, Wolfgang
AU - Bujo, Hideaki
AU - Song, You-Qiang
AU - Andersen, Olav M
AU - Willnow, Thomas E
AU - Graff-Radford, Neill
AU - Petersen, Ronald C
AU - Dickson, Dennis
AU - Der, Sandy D
AU - Fraser, Paul E
AU - Schmitt-Ulms, Gerold
AU - Younkin, Steven
AU - Mayeux, Richard
AU - Farrer, Lindsay A
AU - Peter, St George-Hyslop
PY - 2007
Y1 - 2007
N2 - 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 SORL1 gene (also known as LR11 or SORLA) may regulate tissue-specific expression of SORL1. We also show that SORL1 directs trafficking of APP into recycling pathways and that when SORL1 is underexpressed, APP is sorted into Abeta-generating compartments. These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease.
AB - 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 SORL1 gene (also known as LR11 or SORLA) may regulate tissue-specific expression of SORL1. We also show that SORL1 directs trafficking of APP into recycling pathways and that when SORL1 is underexpressed, APP is sorted into Abeta-generating compartments. These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease.
M3 - SCORING: Zeitschriftenaufsatz
VL - 39
SP - 168
EP - 177
JO - NAT GENET
JF - NAT GENET
SN - 1061-4036
IS - 2
M1 - 2
ER -