| 1 | APH1A, NCSTN, PSEN1, PSEN2, PSENEN
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| Pen-2 and Presenilin are Sufficient to Catalyze Notch Processing.
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| Hu C, Xu J, Zeng L, Li T, Cui MZ, Xu X.
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| J Alzheimers Dis 56(4):1263-1269. doi: 10.3233/JAD-161094.
2017
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| 2 | PSEN1, PSEN2
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| Attenuated presenilin-1 endoproteolysis enhances store-operated calcium currents in neuronal cells.
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| Ryazantseva M, Skobeleva K, Glushankova L, Kaznacheyeva E.
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| J Neurochem 136(5):1085-95. doi: 10.1111/jnc.13495. Epub 2016 Jan 11.
2016
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| 3 | ARF4, PSEN2
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| A Presenilin-2-ARF4 trafficking axis modulates Notch signaling during epidermal differentiation.
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| Ezratty EJ, Pasolli HA, Fuchs E.
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| J Cell Biol 214(1):89-101. doi: 10.1083/jcb.201508082. Epub 2016 Jun 27.
2016
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| 4 | PSEN1, PSEN2
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| Loss of Spatial Memory, Learning, and Motor Function During Normal Aging Is Accompanied by Changes in Brain Presenilin 1 and 2 Expression Levels.
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| Kaja S, Sumien N, Shah VV, Puthawala I, Maynard AN, Khullar N, Payne AJ, Forster MJ, Koulen P.
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| Mol Neurobiol 52(1):545-54. doi: 10.1007/s12035-014-8877-4. Epub 2014 Sep 10.
2015
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| 5 | PSEN2
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| Distribution and expression of Pen-2 in the central nervous system of APP/PS1 double transgenic mice.
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| Chu Y, Peng X, Long Z, Wang K, Luo S, Sharma A, He G.
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| Acta Biochim Biophys Sin (Shanghai) 47(4):258-66. doi: 10.1093/abbs/gmv010. Epub 2015 Mar 2.
2015
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| 6 | PSEN1, PSEN2
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| PSEN1 and PSEN2 gene expression in Alzheimer's disease brain: a new approach.
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| Delabio R, Rasmussen L, Mizumoto I, Viani GA, Chen E, Villares J, Costa IB, Turecki G, Linde SA, Smith MC, Payão SL.
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| J Alzheimers Dis 42(3):757-60. doi: 10.3233/JAD-140033.
2014
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| 7 | PSEN1, PSEN2
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| Presenilins regulate calcium homeostasis and presynaptic function via ryanodine receptors in hippocampal neurons.
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| Wu B, Yamaguchi H, Lai FA, Shen J.
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| Proc Natl Acad Sci U S A 110(37):15091-6. doi: 10.1073/pnas.1304171110. Epub 2013 Aug 5.
2013
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| 8 | PSEN1, PSEN2
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| Presenilins are novel substrates for TRAF6-mediated ubiquitination.
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| Yan R, Farrelly S, McCarthy JV.
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| Cell Signal 25(9):1769-79. doi: 10.1016/j.cellsig.2013.05.015. Epub 2013 May 21.
2013
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| 9 | PRKN, PSEN1, PSEN2
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| Parkin differently regulates presenilin-1 and presenilin-2 functions by direct control of their promoter transcription.
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| Duplan E, Sevalle J, Viotti J, Goiran T, Bauer C, Renbaum P, Levy-Lahad E, Gautier CA, Corti O, Leroudier N, Checler F, da Costa CA.
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| J Mol Cell Biol 5(2):132-42. doi: 10.1093/jmcb/mjt003. Epub 2013 Jan 28.
2013
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| 10 | PSEN1, PSEN2
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| Presenilin 1 and 2 are expressed differentially in the cerebral cortex of mice during development.
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| Kumar A, Thakur MK.
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| Neurochem Int 61(5):778-82. doi: 10.1016/j.neuint.2012.07.001. Epub 2012 Jul 11.
2012
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| 11 | PSEN1, PSEN2
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| Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk.
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| Zampese E, Fasolato C, Kipanyula MJ, Bortolozzi M, Pozzan T, Pizzo P.
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| Proc Natl Acad Sci U S A 108(7):2777-82. Epub 2011 Feb 1.
2011
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| 12 | PSEN2
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| The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease.
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| Yu CE, Marchani E, Nikisch G, Müller U, Nolte D, Hertel A, Wijsman EM, Bird TD.
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| Arch Neurol 67(5):631-3.PMID: 20457965 2010
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| 13 | PSEN1, PSEN2
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| Is Alzheimer's disease a disorder of mitochondria-associated membranes?
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| Schon EA, Area-Gomez E.
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| J Alzheimers Dis 20 Suppl 2:S281-92. Review.PMID: 20421691 2010
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| 14 | AD4, PSEN2
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| Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families.
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| Marchani EE, Bird TD, Steinbart EJ, Rosenthal E, Yu CE, Schellenberg GD, Wijsman EM.
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| Am J Med Genet B Neuropsychiatr Genet 153B(5):1031-41.PMID: 20333730 2010
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| 15 | PSEN2
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| A novel mutation in the predicted TMIII domain of the PSEN2 gene in an Italian pedigree with atypical Alzheimer's disease.
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| Piscopo P, Talarico G, Crestini A, Gasparini M, Malvezzi-Campeggi L, Piacentini E, Lenzi GL, Bruno G, Confaloni A.
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| J Alzheimers Dis 20(1):43-7.PMID: 20164579 2010
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| 16 | PSEN1, PSEN2
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| Independent and cooperative action of Psen2 with Psen1 in zebrafish embryos.
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| Nornes S, Newman M, Wells S, Verdile G, Martins RN, Lardelli M.
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| Exp Cell Res 315(16):2791-801. Epub 2009 Jun 27.PMID: 1956380 2009
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| 17 | PSEN1, PSEN2
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| Variations in the neuropathology of familial Alzheimer's disease.
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| Shepherd C, McCann H, Halliday GM.
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| Acta Neuropathol 118(1):37-52. Epub 2009 Mar 22. Review.PMID: 19306098 2009
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| 18 | PSEN2
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| A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.
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| Marcon G, Di Fede G, Giaccone G, Rossi G, Giovagnoli AR, Maccagnano E, Tagliavini F.
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| J Alzheimers Dis 16(3):509-11.PMID: 19276543 2009
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| 19 | PSEN1, PSEN2, PSENEN
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| Pen2 and presenilin-1 modulate the dynamic equilibrium of presenilin-1 and presenilin-2 gamma-secretase complexes.
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| Placanica L, Tarassishin L, Yang G, Peethumnongsin E, Kim SH, Zheng H, Sisodia SS, Li YM.
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| J Biol Chem 284(5):2967-77. doi: 10.1074/jbc.M807269200. Epub 2008 Nov 25.
2009
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| 20 | NOTCH1, NOTCH2, NOTCH3, JAG1, ICHD, PSEN1, PSEN2
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| The multifaceted role of Notch in cardiac development and disease.
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| High FA, Epstein JA.
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| Nat Rev Genet 9(1):49-61. Review. 2008
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| 21 | AD1, AD2, AD24, AD3, AD4, APOE, APP, PSEN1, PSEN2
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| Genome-wide association studies in Alzheimer disease.
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| Waring SC, Rosenberg RN.
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| Arch Neurol 65(3):329-34. Review. 2008
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| 22 | AD4, PSEN2
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| A novel PSEN2 mutation associated with a peculiar phenotype.
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| Piscopo P, Marcon G, Piras MR, Crestini A, Campeggi LM, Deiana E, Cherchi R, Tanda F, Deplano A, Vanacore N, Tagliavini F, Pocchiari M, Giaccone G, Confaloni A.
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| Neurology 70(17):1549-54.PMID: 18427071 2008
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| 23 | PSEN1, PSEN2
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| Molecular signatures of neurodegeneration in the cortex of PS1/PS2 double knockout mice.
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| Mirnics K, Norstrom EM, Garbett K, Choi SH, Zhang X, Ebert P, Sisodia SS.
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| Mol Neurodegener 3:14.PMID: 18834536 2008
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| 24 | TMED10, PSEN1, PSEN2
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| TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity.
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| Chen F, Hasegawa H, Schmitt-Ulms G, Kawarai T, Bohm C, Katayama T, Gu Y, Sanjo N, Glista M, Rogaeva E, Wakutani Y, Pardossi-Piquard R, Ruan X, Tandon A, Checler F, Marambaud P, Hansen K, Westaway D, St George-Hyslop P, Fraser P.
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| Nature 440(7088):1208-12. 2006
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| 25 | AD24, AD3, AD4, PSEN1, PSEN2
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| Presenilin mutations linked to familial Alzheimer's disease cause an imbalance in phosphatidylinositol 4,5-bisphosphate metabolism.
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| Landman N, Jeong SY, Shin SY, Voronov SV, Serban G, Kang MS, Park MK, Di Paolo G, Chung S, Kim TW.
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| Proc Natl Acad Sci U S A 103(51):19524-9. Epub 2006 Dec 8. 2006
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| 26 | PSEN1, PSEN2, CMD1U
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| Mutations of presenilin genes in dilated cardiomyopathy and heart failure.
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| Li D, Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Partain J, Nixon RR, Allen CN, Irwin RP, Jakobs PM, Litt M, Hershberger RE.
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| Am J Hum Genet 79(6):1030-9. Epub 2006 Oct 24. 2006
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| 27 | CMD1V, PSEN2
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| Mutations of presenilin genes in dilated cardiomyopathy and heart failure.
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| Li D, Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Partain J, Nixon RR, Allen CN, Irwin RP, Jakobs PM, Litt M, Hershberger RE.
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| Am J Hum Genet 79(6):1030-9. Epub 2006 Oct 24.
2006
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| 28 | PSEN1, PSEN2, BCL2, FKBP8
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| Interaction of presenilins with FKBP38 promotes apoptosis by reducing mitochondrial Bcl-2.
|
| Wang HQ, Nakaya Y, Du Z, Yamane T, Shirane M, Kudo T, Takeda M, Takebayashi K, Noda Y, Nakayama KI, Nishimura M.
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| Hum Mol Genet 14(13):1889-902. Epub 2005 May 19. 2005
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| 29 | PSEN1, PSEN2, PSENEN
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| Length and overall sequence of the PEN-2 C-terminal domain determines its function in the stabilization of presenilin fragments.
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| Prokop S, Haass C, Steiner H.
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| J Neurochem 94(1):57-62. 2005
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| 30 | PSEN2
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| Recent insights on the pro-apoptotic phenotype elicited by presenilin 2 and its caspase and presenilinase-derived fragments.
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| da Costa CA.
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| Curr Alzheimer Res 2(5):507-14. Review. 2005
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| 31 | PSEN2
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| The presenilin 2 M239I mutation associated with familial Alzheimer's disease reduces Ca2+ release from intracellular stores.
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| Zatti G, Ghidoni R, Barbiero L, Binetti G, Pozzan T, Fasolato C, Pizzo P.
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| Neurobiol Dis 15(2):269-78. 2004
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| 32 | HM13, PSEN1, PSEN2, SPPL2A, SPPL2B, SPPL3
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| Intramembrane-cleaving aspartic proteases and disease: presenilins, signal peptide peptidase and their homologs.
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| Martoglio B, Golde TE.
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| Hum Mol Genet 12 Suppl 2:R201-6. Epub 2003 Sep 09. 2003
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| 33 | APH1A, APH1B, NCSTN, PSENEN, PSEN1, PSEN2
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| APH1, PEN2, and Nicastrin increase Abeta levels and gamma-secretase activity.
|
| Marlow L, Canet RM, Haugabook SJ, Hardy JA, Lahiri DK, Sambamurti K.
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| Biochem Biophys Res Commun 305(3):502-9.Erratum in: Biochem Biophys Res Commun. 2003 Aug 1;307(3):756. 2003
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| 34 | APP, PSEN1, PSEN2
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| Presenilin, Notch, and the genesis and treatment of Alzheimer's disease.
|
| Selkoe DJ.
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| Proc Natl Acad Sci U S A 98(20):11039-41. 2001
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| 35 | PARL, PSEN1, PSEN2, YME1L1
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| PAMP and PARL, two novel putative metalloproteases interacting with the COOH-terminus of Presenilin-1 and -2.
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| Pellegrini L, Passer BJ, Canelles M, Lefterov I, Ganjei JK, Fowlkes BJ, Koonin EV, D'Adamio L.
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| J Alzheimers Dis 3(2):181-190. 2001
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| 36 | APP, PRNP, PSEN1, PSEN2
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| High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
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| Finckh U, Muller-Thomsen T, Mann U, Eggers C, Marksteiner J, Meins W, Binetti G, Alberici A, Hock C, Nitsch RM, Gal A.
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| Am J Hum Genet 66(1):110-7. 2000
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| 37 | AD4, FHL2, PSEN2
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| Alzheimer's disease-associated presenilin 2 interacts with DRAL, an LIM-domain protein
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| Tanahashi H, Tabira T.
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| Hum Mol Genet 9(15):2281-9. 2000
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| 38 | PSEN2, SRI
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| Presenilin 2 interacts with sorcin, a modulator of the ryanodine receptor.
|
| Pack-Chung E, Meyers MB, Pettingell WP, Moir RD, Brownawell AM, Cheng I, Tanzi RE, Kim TW.
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| J Biol Chem 275(19):14440-5. 2000
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| 39 | PSEN1, PSEN2
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| Presenilin-1 and -2 are molecular targets for gamma-secretase inhibitors.
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| Seiffert D, Bradley JD, Rominger CM, Rominger DH, Yang F, Meredith JE Jr, Wang Q, Roach AH, Thompson LA, Spitz SM, Higaki JN, Prakash SR, Combs AP, Copeland RA, Arneric SP, Hartig PR, Robertson DW, Cordell B, Stern AM, Olson RE, Zaczek R.
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| J Biol Chem 275(44):34086-91. 2000
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| 40 | PSEN2
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| Phosphorylation of presenilin-2 regulates its cleavage by caspases and retards progression of apoptosis.
|
| Walter J, et al.
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| Proc Natl Acad Sci U S A 96 : 1391-1396. 1999
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| 41 | AD3, AD4, PSEN1, PSEN2
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| A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2.
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| Yasuda M, et al.
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| Arch Neurol 56(1):65-9. 1999
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| 42 | PSEN1, PSEN2
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| Identification of caspases that cleave presenilin-1 and presenilin-2. Five presenilin-1 (PS1) mutations do not alter the sensitivity of PS1 to caspases.
|
| van de Craen M, et al.
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| FEBS Lett 445(1):149-54. 1999
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| 43 | PSEN1, PSEN2
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| Presenilins interact with rab11, a small GTPase involved in the regulation of vesicular transport.
|
| Dumanchin C, Czech C, Campion D, Cuif MH, Poyot T, Martin C, Charbonnier F, Goud B, Pradier L, Frebourg T.
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| Hum Mol Genet 8(7):1263-9. 1999
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| 44 | PSEN2, AD4
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| A novel presenilin-2 splice variant in human Alzheimer's disease brain tissue.
|
| Sato N, et al.
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| J Neurochem 72(6):2498-505. 1999
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| 45 | AD3, AD4, PSEN1, PSEN2
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| Presenilin mutations in Alzheimer's disease.
|
| Cruts M, Van Broeckhoven C.
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| Hum Mutat 11(3):183-90. 1998
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| 46 | PSEN2
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| Cloning and characterization of the presenilin-2 gene promoter.
|
| Pennypacker KR, et al.
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| Brain Res Mol Brain Res 56 : 57-65. 1998
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| 47 | AD4, PSEN2
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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.
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| J Biol Chem 273 : 21153-21160. 1998
|
| 48 | AD4, PSEN2
|
| Monogenic determinants of familial Alzheimer's disease : presenilin-2 mutations.
|
| Renbaum P, et al.
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| Cell Mol Life Sci 54 : 910-919. 1998
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| 49 | AD4, PSEN2
|
| Alzheimer's disease-linked mutation of presenilin 2 (N141I-PS2) drastically lowers APPalpha secretion : control by the proteasome.
|
| Marambaud P, et al.
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| Biochem Biophys Res Commun 252 : 134-138. 1998
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| 50 | AD3, AD4, PSEN1, PSEN2
|
| Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
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| Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C.
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| Hum Mol Genet 7(1):43-51 1998
|
| 51 | AD4, PSEN2
|
| 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, et al.
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| Proc Natl Acad Sci U S A 94 : 2025-2030. 1997
|
| 52 | AD4, PSEN2
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| Assignment of Alzheimer's presenilin-2 (PS-2) gene to 1q42.1 by fluorescence in situ hybridization.
|
| Takano T, et al.
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| Neurosci Lett 221 : 205-207. 1997
|
| 53 | PSEN1, PSEN2
|
| Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation.
|
| Li J, Xu M, Zhou H, Ma J, Potter H.
|
| Cell 90(5):917-27. 1997
|
| 54 | APP, PSEN1, PSEN2
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| Interaction between amyloid precursor protein and presenilins in mammalian cells: implications for the pathogenesis of Alzheimer disease.
|
| Xia W, Zhang J, Perez R, Koo EH, Selkoe DJ.
|
| Proc Natl Acad Sci U S A 94(15):8208-13. 1997
|
| 55 | APP, PSEN2
|
| Formation of stable complexes between two Alzheimer's disease gene products: presenilin-2 and beta-amyloid precursor protein.
|
| Weidemann A, Paliga K, Durrwang U, Czech C, Evin G, Masters CL, Beyreuther K.
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| Nat Med 3(3):328-32. 1997
|
| 56 | AD3, AD4, PSEN1, PSEN2
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| Alzheimer-associated presenilins 1 and 2 : neuronal expression in brain and localization to intracellular membranes in mammalian cells.
|
| Kovacs DM, et al.
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| Nat Med 2 : 224-229. 1996
|
| 57 | PSEN2, AD4
|
| Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene.
|
| Levy-Lahad E, et al.
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| Genomics 34 : 198-204. 1996
|
| 58 | PSEN2, AD4
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| Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
|
| Sherrington R, et al.
|
| Hum Mol Genet 5 : 985-988. 1996
|
| 59 | AD3, AD4, PSEN1, PSEN2
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| Missense mutations of the PS-1/S182 gene in German early-onset Alzheimer's disease patients.
|
| Sandbrink R, et al.
|
| Ann Neurol 40 : 265-266. 1996
|
| 60 | AD4, PSEN2
|
| Participation of presenilin 2 in apoptosis : enhanced basal activity conferred by an Alzheimer mutation.
|
| Wolozin B, et al.
|
| Science 274 : 1710-1713. 1996
|
| 61 | PSEN1, PSEN2
|
| The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.
|
| Alzheimer's Disease Collaborative Group.
|
| Nat Genet 11 : 219-222. 1995
|
| 62 | AD3, PSEN1, PSEN2
|
| Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
|
| Campion D, et al.
|
| Hum Mol Genet 4 : 2373-2377. 1995
|
| 63 | AD4, PSEN1, PSEN2
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| Identification and expression analysis of a potential familial Alzheimer disease gene on chromosome 1 related to AD3.
|
| Li J, et al.
|
| Proc Natl Acad Sci U S A 92 : 12180-12184. 1995
|
| 64 | AD4, PSEN2
|
| A familial Alzheimer's disease locus on chromosome 1.
|
| Levy-Lahad E, et al.
|
| Science 269 : 970-973. 1995
|
| 65 | AD4, PSEN2
|
| Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
|
| Rogaev EI, et al.
|
| Nature 376 : 775-778. 1995
|
| 66 | AD4, PSEN2
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| Candidate gene for the chromosome 1 familial Alzheimer's disease locus.
|
| Levy-Lahad E, et al.
|
| Science 269 : 973-977. 1995
|