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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. Among authors: tokuhiro s. 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.
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. Among authors: tokuhiro s. 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.
SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk.
Reitz C, Tokuhiro S, Clark LN, Conrad C, Vonsattel JP, Hazrati LN, Palotás A, Lantigua R, Medrano M, Z Jiménez-Velázquez I, Vardarajan B, Simkin I, Haines JL, Pericak-Vance MA, Farrer LA, Lee JH, Rogaeva E, George-Hyslop PS, Mayeux R. Reitz C, et al. Among authors: tokuhiro s. Ann Neurol. 2011 Jan;69(1):47-64. doi: 10.1002/ana.22308. Ann Neurol. 2011. PMID: 21280075 Free PMC article.
40 results