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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. Among authors: sherrington r. Nat Med. 1997 Jan;3(1):67-72. doi: 10.1038/nm0197-67. Nat Med. 1997. PMID: 8986743
Presenilin proteins undergo heterogeneous endoproteolysis between Thr291 and Ala299 and occur as stable N- and C-terminal fragments in normal and Alzheimer brain tissue.
Podlisny MB, Citron M, Amarante P, Sherrington R, Xia W, Zhang J, Diehl T, Levesque G, Fraser P, Haass C, Koo EH, Seubert P, St George-Hyslop P, Teplow DB, Selkoe DJ. Podlisny MB, et al. Among authors: sherrington r. Neurobiol Dis. 1997;3(4):325-37. doi: 10.1006/nbdi.1997.0129. Neurobiol Dis. 1997. PMID: 9173929
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
Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, beta APP-linked and sporadic Alzheimer disease.
Tamaoka A, Fraser PE, Ishii K, Sahara N, Ozawa K, Ikeda M, Saunders AM, Komatsuzaki Y, Sherrington R, Levesque G, Yu G, Rogaeva E, Shoji S, Nee LE, Pollen DA, Hendriks L, Martin JJ, Van Broeckhoven C, Roses AD, Farrer LA, St George-Hyslop PH, Mori H. Tamaoka A, et al. Among authors: sherrington r. Brain Res Mol Brain Res. 1998 May;56(1-2):178-85. doi: 10.1016/s0169-328x(98)00044-8. Brain Res Mol Brain Res. 1998. PMID: 9602117 Free article.
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
Sherrington R, Froelich S, Sorbi S, Campion D, Chi H, Rogaeva EA, Levesque G, Rogaev EI, Lin C, Liang Y, Ikeda M, Mar L, Brice A, Agid Y, Percy ME, Clerget-Darpoux F, Piacentini S, Marcon G, Nacmias B, Amaducci L, Frebourg T, Lannfelt L, Rommens JM, St George-Hyslop PH. Sherrington R, et al. Hum Mol Genet. 1996 Jul;5(7):985-8. doi: 10.1093/hmg/5.7.985. Hum Mol Genet. 1996. PMID: 8817335
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