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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. 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.
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: rozmahel r. 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.
Loss of nicastrin elicits an apoptotic phenotype in mouse embryos.
Nguyen V, Hawkins C, Bergeron C, Supala A, Huang J, Westaway D, St George-Hyslop P, Rozmahel R. Nguyen V, et al. Among authors: rozmahel r. Brain Res. 2006 May 1;1086(1):76-84. doi: 10.1016/j.brainres.2006.02.122. Epub 2006 Apr 13. Brain Res. 2006. PMID: 16626651
Carboxyl-terminal fragments of Alzheimer beta-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells.
Chen F, Yang DS, Petanceska S, Yang A, Tandon A, Yu G, Rozmahel R, Ghiso J, Nishimura M, Zhang DM, Kawarai T, Levesque G, Mills J, Levesque L, Song YQ, Rogaeva E, Westaway D, Mount H, Gandy S, St George-Hyslop P, Fraser PE. Chen F, et al. Among authors: rozmahel r. J Biol Chem. 2000 Nov 24;275(47):36794-802. doi: 10.1074/jbc.M006986200. J Biol Chem. 2000. PMID: 10962005 Free article.
Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex.
Nishimura M, Yu G, Levesque G, Zhang DM, Ruel L, Chen F, Milman P, Holmes E, Liang Y, Kawarai T, Jo E, Supala A, Rogaeva E, Xu DM, Janus C, Levesque L, Bi Q, Duthie M, Rozmahel R, Mattila K, Lannfelt L, Westaway D, Mount HT, Woodgett J, St George-Hyslop P, et al. Nishimura M, et al. Among authors: rozmahel r. Nat Med. 1999 Feb;5(2):164-9. doi: 10.1038/5526. Nat Med. 1999. PMID: 9930863
39 results