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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.
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HA, Haines JL, Perkicak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop PH. Sherrington R, et al. Nature. 1995 Jun 29;375(6534):754-60. doi: 10.1038/375754a0. Nature. 1995. PMID: 7596406
Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice.
Citron M, Westaway D, Xia W, Carlson G, Diehl T, Levesque G, Johnson-Wood K, Lee M, Seubert P, Davis A, Kholodenko D, Motter R, Sherrington R, Perry B, Yao H, Strome R, Lieberburg I, Rommens J, Kim S, Schenk D, Fraser P, St George Hyslop P, Selkoe DJ. Citron M, et al. Nat Med. 1997 Jan;3(1):67-72. doi: 10.1038/nm0197-67. Nat Med. 1997. PMID: 8986743
Presenilin 1 is actively degraded by the 26S proteasome.
Fraser PE, Levesque G, Yu G, Mills LR, Thirlwell J, Frantseva M, Gandy SE, Seeger M, Carlen PL, St George-Hyslop P. Fraser PE, et al. Neurobiol Aging. 1998 Jan-Feb;19(1 Suppl):S19-21. doi: 10.1016/s0197-4580(98)00029-3. Neurobiol Aging. 1998. PMID: 9562462 Free article.
407 results