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The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.
Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F, Katayama T, Baldwin CT, Cheng R, Hasegawa H, Chen F, Shibata N, Lunetta KL, Pardossi-Piquard R, Bohm C, Wakutani Y, Cupples LA, Cuenco KT, Green RC, Pinessi L, Rainero I, Sorbi S, Bruni A, Duara R, Friedland RP, Inzelberg R, Hampe W, Bujo H, Song YQ, Andersen OM, Willnow TE, Graff-Radford N, Petersen RC, Dickson D, Der SD, Fraser PE, Schmitt-Ulms G, Younkin S, Mayeux R, Farrer LA, St George-Hyslop P. Rogaeva E, et al. Among authors: gu y. Nat Genet. 2007 Feb;39(2):168-77. doi: 10.1038/ng1943. Epub 2007 Jan 14. Nat Genet. 2007. PMID: 17220890 Free PMC article.
TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity.
Chen F, Hasegawa H, Schmitt-Ulms G, Kawarai T, Bohm C, Katayama T, Gu Y, Sanjo N, Glista M, Rogaeva E, Wakutani Y, Pardossi-Piquard R, Ruan X, Tandon A, Checler F, Marambaud P, Hansen K, Westaway D, St George-Hyslop P, Fraser P. Chen F, et al. Among authors: gu y. Nature. 2006 Apr 27;440(7088):1208-12. doi: 10.1038/nature04667. Nature. 2006. PMID: 16641999
Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations.
Petit A, Kawarai T, Paitel E, Sanjo N, Maj M, Scheid M, Chen F, Gu Y, Hasegawa H, Salehi-Rad S, Wang L, Rogaeva E, Fraser P, Robinson B, St George-Hyslop P, Tandon A. Petit A, et al. Among authors: gu y. J Biol Chem. 2005 Oct 7;280(40):34025-32. doi: 10.1074/jbc.M505143200. Epub 2005 Aug 2. J Biol Chem. 2005. PMID: 16079129 Free article.
APH1 polar transmembrane residues regulate the assembly and activity of presenilin complexes.
Pardossi-Piquard R, Yang SP, Kanemoto S, Gu Y, Chen F, Böhm C, Sevalle J, Li T, Wong PC, Checler F, Schmitt-Ulms G, St George-Hyslop P, Fraser PE. Pardossi-Piquard R, et al. Among authors: gu y. J Biol Chem. 2009 Jun 12;284(24):16298-16307. doi: 10.1074/jbc.M109.000067. Epub 2009 Apr 15. J Biol Chem. 2009. PMID: 19369254 Free PMC article.
Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype.
Rozmahel R, Mount HT, Chen F, Nguyen V, Huang J, Erdebil S, Liauw J, Yu G, Hasegawa H, Gu Y, Song YQ, Schmidt SD, Nixon RA, Mathews PM, Bergeron C, Fraser P, Westaway D, St George-Hyslop P. Rozmahel R, et al. Among authors: gu y. Proc Natl Acad Sci U S A. 2002 Oct 29;99(22):14452-7. doi: 10.1073/pnas.222413999. Epub 2002 Oct 18. Proc Natl Acad Sci U S A. 2002. PMID: 12388777 Free PMC article.
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