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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. J Biol Chem. 2000 Nov 24;275(47):36794-802. doi: 10.1074/jbc.M006986200. J Biol Chem. 2000. PMID: 10962005 Free article.
Presenilins interact with armadillo proteins including neural-specific plakophilin-related protein and beta-catenin.
Levesque G, Yu G, Nishimura M, Zhang DM, Levesque L, Yu H, Xu D, Liang Y, Rogaeva E, Ikeda M, Duthie M, Murgolo N, Wang L, VanderVere P, Bayne ML, Strader CD, Rommens JM, Fraser PE, St George-Hyslop P. Levesque G, et al. J Neurochem. 1999 Mar;72(3):999-1008. doi: 10.1046/j.1471-4159.1999.0720999.x. J Neurochem. 1999. PMID: 10037471 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. Nat Med. 1999 Feb;5(2):164-9. doi: 10.1038/5526. Nat Med. 1999. PMID: 9930863
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