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A loss of function mutation of presenilin-2 interferes with amyloid beta-peptide production and notch signaling.
Steiner H, Duff K, Capell A, Romig H, Grim MG, Lincoln S, Hardy J, Yu X, Picciano M, Fechteler K, Citron M, Kopan R, Pesold B, Keck S, Baader M, Tomita T, Iwatsubo T, Baumeister R, Haass C. Steiner H, et al. Among authors: tomita t. J Biol Chem. 1999 Oct 1;274(40):28669-73. doi: 10.1074/jbc.274.40.28669. J Biol Chem. 1999. PMID: 10497236 Free article.
Mutant presenilin 2 transgenic mouse: effect on an age-dependent increase of amyloid beta-protein 42 in the brain.
Oyama F, Sawamura N, Kobayashi K, Morishima-Kawashima M, Kuramochi T, Ito M, Tomita T, Maruyama K, Saido TC, Iwatsubo T, Capell A, Walter J, Grünberg J, Ueyama Y, Haass C, Ihara Y. Oyama F, et al. Among authors: tomita t. J Neurochem. 1998 Jul;71(1):313-22. doi: 10.1046/j.1471-4159.1998.71010313.x. J Neurochem. 1998. PMID: 9648880 Free article.
Molecular dissection of domains in mutant presenilin 2 that mediate overproduction of amyloidogenic forms of amyloid beta peptides. Inability of truncated forms of PS2 with familial Alzheimer's disease mutation to increase secretion of Abeta42.
Tomita T, Tokuhiro S, Hashimoto T, Aiba K, Saido TC, Maruyama K, Iwatsubo T. Tomita T, et al. J Biol Chem. 1998 Aug 14;273(33):21153-60. doi: 10.1074/jbc.273.33.21153. J Biol Chem. 1998. PMID: 9694871 Free article.
[Molecular cell biology of presenilins].
Tomita T, Iwatsubo T. Tomita T, et al. Nihon Yakurigaku Zasshi. 1999 Dec;114(6):337-46. doi: 10.1254/fpj.114.337. Nihon Yakurigaku Zasshi. 1999. PMID: 10672594 Review. Japanese.
The nonconserved hydrophilic loop domain of presenilin (PS) is not required for PS endoproteolysis or enhanced abeta 42 production mediated by familial early onset Alzheimer's disease-linked PS variants.
Saura CA, Tomita T, Soriano S, Takahashi M, Leem JY, Honda T, Koo EH, Iwatsubo T, Thinakaran G. Saura CA, et al. Among authors: tomita t. J Biol Chem. 2000 Jun 2;275(22):17136-42. doi: 10.1074/jbc.M909624199. J Biol Chem. 2000. PMID: 10748144 Free article.
The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue.
Tomita T, Maruyama K, Saido TC, Kume H, Shinozaki K, Tokuhiro S, Capell A, Walter J, Grünberg J, Haass C, Iwatsubo T, Obata K. Tomita T, et al. Proc Natl Acad Sci U S A. 1997 Mar 4;94(5):2025-30. doi: 10.1073/pnas.94.5.2025. Proc Natl Acad Sci U S A. 1997. PMID: 9050898 Free PMC article.
2,342 results