DOI: 10.1038/ng1943

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The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

Ekaterina Rogaeva,Yan Meng,Joseph H. Lee,Yonghong Gu,Toshitaka Kawarai,Fanggeng Zou,Taiichi Katayama,Clinton T. Baldwin,Rong Cheng,Hiroshi Hasegawa,Fusheng Chen,Nobuto Shibata,Kathryn L. Lunetta,Raphaëlle Pardossi‐Piquard,Christopher Böhm,Yosuke Wakutani,L. Adrienne Cupples,Karen T. Cuenco,Robert Green,Lorenzo Pinessi,Innocenzo Rainero,Sandro Sorbi,Amalia C. Bruni,Ranjan Duara,Robert P. Friedland,Rivka Inzelberg,Wolfgang Hampe,Hideaki Bujo,You‐Qiang Song,Olav M. Andersen,Thomas E. Willnow,Neill R. Graff‐Radford,Ronald C. Petersen,Dennis W. Dickson,Sandy D. Der,Paul E. Fraser,Gerold Schmitt‐Ulms,Steven G. Younkin,Richard Mayeux,Lindsay A. Farrer,Peter St George-Hyslop

Biology

Alzheimer's disease

Amyloid precursor protein

2007

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.

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“The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease” is a paper by Ekaterina Rogaeva Yan Meng Joseph H. Lee Yonghong Gu Toshitaka Kawarai Fanggeng Zou Taiichi Katayama Clinton T. Baldwin Rong Cheng Hiroshi Hasegawa Fusheng Chen Nobuto Shibata Kathryn L. Lunetta Raphaëlle Pardossi‐Piquard Christopher Böhm Yosuke Wakutani L. Adrienne Cupples Karen T. Cuenco Robert Green Lorenzo Pinessi Innocenzo Rainero Sandro Sorbi Amalia C. Bruni Ranjan Duara Robert P. Friedland Rivka Inzelberg Wolfgang Hampe Hideaki Bujo You‐Qiang Song Olav M. Andersen Thomas E. Willnow Neill R. Graff‐Radford Ronald C. Petersen Dennis W. Dickson Sandy D. Der Paul E. Fraser Gerold Schmitt‐Ulms Steven G. Younkin Richard Mayeux Lindsay A. Farrer Peter St George-Hyslop published in 2007. It has an Open Access status of “green”. You can read and download a PDF Full Text of this paper here.