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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.
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.
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
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.
Dissociated phenotypes in presenilin transgenic mice define functionally distinct gamma-secretases.
Mastrangelo P, Mathews PM, Chishti MA, Schmidt SD, Gu Y, Yang J, Mazzella MJ, Coomaraswamy J, Horne P, Strome B, Pelly H, Levesque G, Ebeling C, Jiang Y, Nixon RA, Rozmahel R, Fraser PE, St George-Hyslop P, Carlson GA, Westaway D. Mastrangelo P, et al. Among authors: gu y. Proc Natl Acad Sci U S A. 2005 Jun 21;102(25):8972-7. doi: 10.1073/pnas.0500940102. Epub 2005 Jun 10. Proc Natl Acad Sci U S A. 2005. PMID: 15951428 Free PMC article.
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