| 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, SYT1
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| Identification of the novel activity-driven interaction between synaptotagmin 1 and presenilin 1 links calcium, synapse, and amyloid beta.
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| Kuzuya A, Zoltowska KM, Post KL, Arimon M, Li X, Svirsky S, Maesako M, Muzikansky A, Gautam V, Kovacs D, Hyman BT, Berezovska O.
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| BMC Biol 14:25. doi: 10.1186/s12915-016-0248-3.
2016
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| 3 | KCNIP3, PSEN1
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| Molecular insight of DREAM and presenilin 1 C-terminal fragment interactions.
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| Pham K, Miksovska J.
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| FEBS Lett 590(8):1114-22. doi: 10.1002/1873-3468.12156. Epub 2016 Apr 8.
2016
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| 4 | AD3, PSEN1
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| Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.
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| Ringman JM, Monsell S, Ng DW, Zhou Y, Nguyen A, Coppola G, Van Berlo V, Mendez MF, Tung S, Weintraub S, Mesulam MM, Bigio EH, Gitelman DR, Fisher-Hubbard AO, Albin RL, Vinters HV.
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| J Neuropathol Exp Neurol 75(3):284-90. doi: 10.1093/jnen/nlv028. Epub 2016 Feb 17.
2016
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| 5 | PSEN1, PSEN2
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| Attenuated presenilin-1 endoproteolysis enhances store-operated calcium currents in neuronal cells.
|
| 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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| 6 | PSEN1
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| Presenilin-1 familial Alzheimer's disease mutation alters hippocampal neurogenesis and memory function in CCL2 null mice.
|
| Kiyota T, Morrison CM, Tu G, Dyavarshetty B, Weir RA, Zhang G, Xiong H, Gendelman HE.
|
| Brain Behav Immun 49:311-21. doi: 10.1016/j.bbi.2015.06.014. Epub 2015 Jun 22.
2015
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| 7 | PSEN1
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| A ubiquitin-binding CUE domain in presenilin-1 enables interaction with K63-linked polyubiquitin chains.
|
| Duggan SP, Yan R, McCarthy JV.
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| FEBS Lett 589(9):1001-8. doi: 10.1016/j.febslet.2015.03.008. Epub 2015 Mar 18.
2015
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| 8 | 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.
|
| 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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| 9 | 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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| 10 | MAPT, NUP62, PSEN1
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| Presenilin-1 regulates the expression of p62 to govern p62-dependent tau degradation.
|
| Tung YT, Wang BJ, Hsu WM, Hu MK, Her GM, Huang WP, Liao YF.
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| Mol Neurobiol 49(1):10-27. doi: 10.1007/s12035-013-8482-y. Epub 2013 Jun 23.
2014
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| 11 | PSEN1
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| Structure of a presenilin family intramembrane aspartate protease.
|
| Li X, Dang S, Yan C, Gong X, Wang J, Shi Y.
|
| Nature 493(7430):56-61. doi: 10.1038/nature11801. Epub 2012 Dec 19.
2013
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| 12 | 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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| 13 | PSEN1, PSEN2
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| Presenilins are novel substrates for TRAF6-mediated ubiquitination.
|
| 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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| 14 | PRKN, PSEN1, PSEN2
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| Parkin differently regulates presenilin-1 and presenilin-2 functions by direct control of their promoter transcription.
|
| 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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| 15 | PSEN1
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| Cortical atrophy in presymptomatic Alzheimer's disease presenilin 1 mutation carriers.
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| Quiroz YT, Stern CE, Reiman EM, Brickhouse M, Ruiz A, Sperling RA, Lopera F, Dickerson BC.
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| J Neurol Neurosurg Psychiatry 84(5):556-61. doi: 10.1136/jnnp-2012-303299. Epub 2012 Nov 7.
2013
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| 16 | PSEN1
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| Gain of function by phosphorylation in Presenilin 1-mediated regulation of insulin signaling.
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| Maesako M, Uemura K, Kuzuya A, Sasaki K, Asada M, Watanabe K, Ando K, Kubota M, Akiyama H, Takahashi R, Kihara T, Shimohama S, Kinoshita A.
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| J Neurochem 121(6):964-73. doi: 10.1111/j.1471-4159.2012.07741.x. Epub 2012 Apr 23.
2012
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| 17 | PSEN1
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| Presenilin-1 regulates the constitutive turnover of the fibronectin matrix in endothelial cells.
|
| De Gasperi R, Gama Sosa MA, Elder GA.
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| BMC Biochem 13:28. doi: 10.1186/1471-2091-13-28.
2012
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| 18 | PSEN1, PSEN2
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| Presenilin 1 and 2 are expressed differentially in the cerebral cortex of mice during development.
|
| 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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| 19 | DCC, PSEN1, ROBO1
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| Presenilin-dependent receptor processing is required for axon guidance.
|
| Bai G, Chivatakarn O, Bonanomi D, Lettieri K, Franco L, Xia C, Stein E, Ma L, Lewcock JW, Pfaff SL.
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| Cell 144(1):106-18.
2011
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| 20 | PSEN1
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| Presenilin-1 regulates neural progenitor cell differentiation in the adult brain.
|
| Gadadhar A, Marr R, Lazarov O.
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| J Neurosci 31(7):2615-23.
2011
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| 21 | PSEN1, PSEN2
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| Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk.
|
| 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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| 22 | PSEN1
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| Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations.
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| Lee JH, Yu WH, Kumar A, Lee S, Mohan PS, Peterhoff CM, Wolfe DM, Martinez-Vicente M, Massey AC, Sovak G, Uchiyama Y, Westaway D, Cuervo AM, Nixon RA.
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| Cell. 141(7):1146-58. 2010
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| 23 | AD6, PSEN1
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| A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.
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| Heilig EA, Xia W, Shen J, Kelleher RJ 3rd.
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| J Biol Chem 285(29):22350-9. Epub 2010 May 11.PMID: 20460383 2010
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| 24 | 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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| 25 | HTRA2, PSEN1
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| Association of Omi/HtrA2 with γ-secretase in mitochondria.
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| Behbahani H, Pavlov PF, Wiehager B, Nishimura T, Winblad B, Ankarcrona M.
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| Neurochem Int 57(6):668-75. doi: 10.1016/j.neuint.2010.08.004. Epub 2010 Aug 10.
2010
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| 26 | PSEN1
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| Presenilin 1 modifies lipid raft composition of neuronal membranes.
|
| Eckert GP, Müller WE.
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| Biochem Biophys Res Commun 382(4):673-7. Epub 2009 Mar 16.
2009
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| 27 | AD24, AD3, PSEN1
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| Cytoskeletal alterations differentiate presenilin-1 and sporadic Alzheimer's disease.
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| Woodhouse A, Shepherd CE, Sokolova A, Carroll VL, King AE, Halliday GM, Dickson TC, Vickers JC.
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| Acta Neuropathol 117(1):19-29. Epub 2008 Nov 18. 2009
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| 28 | PSEN1
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| Association between Presenilin-1 and TRAF6 modulates regulated intramembrane proteolysis of the p75NTR neurotrophin receptor.
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| Powell JC, Twomey C, Jain R, McCarthy JV.
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| J Neurochem. 108(1):216-30 2009
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| 29 | 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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| 30 | PSEN1, PSEN2
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| Variations in the neuropathology of familial Alzheimer's disease.
|
| 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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| 31 | PLD1, PSEN1
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| Intracellular trafficking of presenilin 1 is regulated by beta-amyloid precursor protein and phospholipase D1.
|
| Liu Y, Zhang YW, Wang X, Zhang H, You X, Liao FF, Xu H.
|
| J Biol Chem 284(18):12145-52. doi: 10.1074/jbc.M808497200. Epub 2009 Mar 10.
2009
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| 32 | PSEN1, PSEN2, PSENEN
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| Pen2 and presenilin-1 modulate the dynamic equilibrium of presenilin-1 and presenilin-2 gamma-secretase complexes.
|
| 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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| 33 | PSEN1, SEC13
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| The coat protein complex II, COPII, protein Sec13 directly interacts with presenilin-1.
|
| Nielsen AL.
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| Biochem Biophys Res Commun. Oct 23;388(3):571-5. doi: 10.1016/j.bbrc.2009.08.051. Epub 2009 Aug 13. 2009
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| 34 | NOTCH1, NOTCH2, NOTCH3, JAG1, ICHD, PSEN1, PSEN2
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| The multifaceted role of Notch in cardiac development and disease.
|
| High FA, Epstein JA.
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| Nat Rev Genet 9(1):49-61. Review. 2008
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| 35 | AD1, AD2, AD24, AD3, AD4, APOE, APP, PSEN1, PSEN2
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| Genome-wide association studies in Alzheimer disease.
|
| Waring SC, Rosenberg RN.
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| Arch Neurol 65(3):329-34. Review. 2008
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| 36 | PSEN1
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| Presenilin-1 gene intronic polymorphism and late-onset Alzheimer's disease.
|
| Dursun E, Gezen-Ak D, Eker E, Ertan T, Engin F, Hanagasi H, Gürvit H, Emre M, Yilmazer S.
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| J Geriatr Psychiatry Neurol 21(4):268-73.
2008
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| 37 | PSEN1
|
| Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity.
|
| Nornes S, Newman M, Verdile G, Wells S, Stoick-Cooper CL, Tucker B, Frederich-Sleptsova I, Martins R, Lardelli M.
|
| Hum Mol Genet. 17(3):402-12. 2008
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| 38 | PSEN1
|
| Presenilin 1 interacts with acetylcholinesterase and alters its enzymatic activity and glycosylation.
|
| Silveyra MX, Evin G, Montenegro MF, Vidal CJ, Martínez S, Culvenor JG, Sáez-Valero J.
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| Mol Cell Biol 28(9):2908-19. Epub 2008 Feb 25.PMID: 18299393 2008
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| 39 | PSEN1, PSEN2
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| Molecular signatures of neurodegeneration in the cortex of PS1/PS2 double knockout mice.
|
| Mirnics K, Norstrom EM, Garbett K, Choi SH, Zhang X, Ebert P, Sisodia SS.
|
| Mol Neurodegener 3:14.PMID: 18834536 2008
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| 40 | PSEN1
|
| The C-terminal PAL motif and transmembrane domain 9 of presenilin 1 are involved in the formation of the catalytic pore of the gamma-secretase.
|
| Sato C, Takagi S, Tomita T, Iwatsubo T.
|
| J Neurosci 28(24):6264-71.PMID: 18550769 2008
|
| 41 | PSEN1
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| Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life.
|
| Kauwe JS, Wang J, Chakraverty S, Goate AM, Henao-Martinez AF.
|
| Neurosci Lett 438(2):257-9. Epub 2008 Apr 15.
2008
|
| 42 | ORMDL1, PSEN1
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| A family of membrane proteins associated with presenilin expression and gamma-secretase function.
|
| Araki W, Takahashi-Sasaki N, Chui DH, Saito S, Takeda K, Shirotani K, Takahashi K, Murayama KS, Kametani F, Shiraishi H, Komano H, Tabira T.
|
| FASEB J 22(3):819-27. Epub 2007 Oct 10.
2008
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| 43 | CTNNB1, PSEN1, PTPRF
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| Presenilin/gamma-secretase-mediated cleavage regulates association of leukocyte-common antigen-related (LAR) receptor tyrosine phosphatase with beta-catenin.
|
| Haapasalo A, Kim DY, Carey BW, Turunen MK, Pettingell WH, Kovacs DM.
|
| J Biol Chem 282(12):9063-72. Epub 2007 Jan 26. 2007
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| 44 | NGFR,PSEN1
|
| Familial Alzheimer's disease presenilin 1 mutation M146V increases gamma secretase cutting of p75NTR in vitro.
|
| Hatchett CS, Tyler S, Armstrong D, Dawbarn D, Allen SJ.
|
| Brain Res 1147:248-55. Epub 2007 Feb 7. 2007
|
| 45 | ACE, APOE, CHRNB2, CST3, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, TFAM, TNF
|
| Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.
|
| Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE.
|
| Nat Genet 39(1):17-23. 2007
|
| 46 | PSEN1
|
| The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.
|
| Shen J, Kelleher RJ 3rd.
|
| Proc Natl Acad Sci U S A. 104(2):403-9. 2007
|
| 47 | TMED10, PSEN1, PSEN2
|
| TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity.
|
| 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.
|
| Nature 440(7088):1208-12. 2006
|
| 48 | AD24, AD3, AD4, PSEN1, PSEN2
|
| Presenilin mutations linked to familial Alzheimer's disease cause an imbalance in phosphatidylinositol 4,5-bisphosphate metabolism.
|
| Landman N, Jeong SY, Shin SY, Voronov SV, Serban G, Kang MS, Park MK, Di Paolo G, Chung S, Kim TW.
|
| Proc Natl Acad Sci U S A 103(51):19524-9. Epub 2006 Dec 8. 2006
|
| 49 | PSEN1, PSEN2, CMD1U
|
| Mutations of presenilin genes in dilated cardiomyopathy and heart failure.
|
| 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.
|
| Am J Hum Genet 79(6):1030-9. Epub 2006 Oct 24. 2006
|
| 50 | FTLD,PSEN1
|
| Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment.
|
| Zekanowski C, Golan MP, Krzysko KA, Lipczynska-Lojkowska W, Filipek S, Kowalska A, Rossa G, Peplonska B, Styczynska M, Maruszak A, Religa D, Wender M, Kulczycki J, Barcikowska M, Kuznicki J.
|
| Exp Neurol 200(1):82-8. Epub 2006 Mar 20. 2006
|
| 51 | PSEN1
|
| Presenilin-1 is an unprimed glycogen synthase kinase-3beta substrate.
|
| Twomey C, McCarthy JV.
|
| FEBS Lett 580(17):4015-20. Epub 2006 Jun 22. 2006
|
| 52 | PSEN1
|
| Presenilin-1 interacts with plakoglobin and enhances plakoglobin-Tcf-4 association. Implications for the regulation of beta-catenin/Tcf-4-dependent transcription.
|
| Raurell I, Castaño J, Francí C, García de Herreros A, Duñach M.
|
| J Biol Chem. 281(3):1401-11 2006
|
| 53 | PSEN1
|
| A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease.
|
| Ishikawa A, Piao YS, Miyashita A, Kuwano R, Onodera O, Ohtake H, Suzuki M, Nishizawa M, Takahashi H.
|
| Ann Neurol 57(3):429-34. 2005
|
| 54 | PSEN1, PSEN2, BCL2, FKBP8
|
| 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.
|
| Hum Mol Genet 14(13):1889-902. Epub 2005 May 19. 2005
|
| 55 | AD1, AD24, AD3, APP, PSEN1
|
| Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
|
| Raux G, Guyant-Marechal L, Martin C, Bou J, Penet C, Brice A, Hannequin D, Frebourg T, Campion D.
|
| J Med Genet 42(10):793-5. Epub 2005 Jul 20. 2005
|
| 56 | PSEN1, PSEN2, PSENEN
|
| Length and overall sequence of the PEN-2 C-terminal domain determines its function in the stabilization of presenilin fragments.
|
| Prokop S, Haass C, Steiner H.
|
| J Neurochem 94(1):57-62. 2005
|
| 57 | PSEN1, PSENEN
|
| A sequence within the first transmembrane domain of PEN-2 is critical for PEN-2-mediated endoproteolysis of presenilin 1.
|
| Kim SH, Sisodia SS.
|
| J Biol Chem 280(3):1992-2001. Epub 2004 Nov 10. 2005
|
| 58 | PSEN1
|
| Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life.
|
| Snider BJ, Norton J, Coats MA, Chakraverty S, Hou CE, Jervis R, Lendon CL, Goate AM, McKeel DW Jr, Morris JC.
|
| Arch Neurol 62(12):1821-30. 2005
|
| 59 | PSEN1
|
| Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease.
|
| Beck JA, Poulter M, Campbell TA, Uphill JB, Adamson G, Geddes JF, Revesz T, Davis MB, Wood NW, Collinge J, Tabrizi SJ.
|
| Hum Mol Genet 13(12):1219-24. Epub 2004 Apr 28. 2004
|
| 60 | PSEN1, PHB, NCSTN, PSENEN, APH1A
|
| Purification and characterization of the human gamma-secretase complex.
|
| Fraering PC, Ye W, Strub JM, Dolios G, LaVoie MJ, Ostaszewski BL, van Dorsselaer A, Wang R, Selkoe DJ, Wolfe MS.
|
| Biochemistry 43(30):9774-89. 2004
|
| 61 | PSEN1
|
| Syntaxin 5 interacts with presenilin holoproteins, but not with their N- or C-terminal fragments, and affects beta-amyloid peptide production.
|
| Suga K, Tomiyama T, Mori H, Akagawa K.
|
| Biochem J. 381(Pt 3):619-28. 2004
|
| 62 | PSEN1
|
| Alternative splicing in the N-terminus of Alzheimer's presenilin 1.
|
| Scheper W, Zwart R, Baas F.
|
| Neurogenetics. 5(4):223-7. 2004
|
| 63 | PSEN1
|
| PS1 activates PI3K thus inhibiting GSK-3 activity and tau overphosphorylation: effects of FAD mutations.
|
| Baki L, Shioi J, Wen P, Shao Z, Schwarzman A, Gama-Sosa M, Neve R, Robakis NK.
|
| EMBO J. 23(13):2586-96. 2004
|
| 64 | PSEN1
|
| Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration.
|
| Saura CA, Choi SY, Beglopoulos V, Malkani S, Zhang D, Shankaranarayana Rao BS, Chattarji S, Kelleher RJ 3rd, Kandel ER, Duff K, Kirkwood A, Shen J.
|
| Neuron 42(1):23-36. 2004
|
| 65 | PSEN1
|
| Partial loss of presenilins causes seborrheic keratosis and autoimmune disease in mice.
|
| Tournoy J, Bossuyt X, Snellinx A, Regent M, Garmyn M, Serneels L, Saftig P, Craessaerts K, De Strooper B, Hartmann D.
|
| Hum Mol Genet. 13(13):1321-31 2004
|
| 66 | AD24, AD3, PSEN1
|
| Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1 expression.
|
| Theuns J, Remacle J, Killick R, Corsmit E, Vennekens K, Huylebroeck D, Cruts M, Van Broeckhoven C.
|
| Hum Mol Genet 12(8):869-77. 2003
|
| 67 | HM13, PSEN1, PSEN2, SPPL2A, SPPL2B, SPPL3
|
| Intramembrane-cleaving aspartic proteases and disease: presenilins, signal peptide peptidase and their homologs.
|
| Martoglio B, Golde TE.
|
| Hum Mol Genet 12 Suppl 2:R201-6. Epub 2003 Sep 09. 2003
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| 68 | APH1A, APH1B, NCSTN, PSENEN, PSEN1, PSEN2
|
| APH1, PEN2, and Nicastrin increase Abeta levels and gamma-secretase activity.
|
| Marlow L, Canet RM, Haugabook SJ, Hardy JA, Lahiri DK, Sambamurti K.
|
| Biochem Biophys Res Commun 305(3):502-9.Erratum in: Biochem Biophys Res Commun. 2003 Aug 1;307(3):756. 2003
|
| 69 | NCSTN, APP, PSEN1
|
| Presenilin-1, nicastrin, amyloid precursor protein, and gamma-secretase activity are co-localized in the lysosomal membrane.
|
| Pasternak SH, Bagshaw RD, Guiral M, Zhang S, Ackerley CA, Pak BJ, Callahan JW, Mahuran DJ.
|
| J Biol Chem 278(29):26687-94. Epub 2003 May 7. 2003
|
| 70 | PSEN1, CDH2
|
| Presenilin 1 is involved in maturation and trafficking of N-cadherin to the plasma membrane.
|
| Uemura K, Kitagawa N, Kohno R, Kuzuya A, Kageyama T, Chonabayashi K, Shibasaki H, Shimohama S.
|
| J Neurosci Res 74(2):184-91. 2003
|
| 71 | PSEN1
|
| Atypical dementia associated with a novel presenilin-2 mutation.
|
| Binetti G, Signorini S, Squitti R, Alberici A, Benussi L, Cassetta E, Frisoni GB, Barbiero L, Feudatari E, Nicosia F, Testa C, Zanetti O, Gennarelli M, Perani D, Anchisi D, Ghidoni R, Rossini PM.
|
| Ann Neurol 54(6):832-6. 2003
|
| 72 | APH1A, PSENEN, PSEN1
|
| The role of presenilin cofactors in the gamma-secretase complex.
|
| Takasugi N, Tomita T, Hayashi I, Tsuruoka M, Niimura M, Takahashi Y, Thinakaran G, Iwatsubo T.
|
| Nature 422(6930):438-41. Epub 2003 Mar 16. 2003
|
| 73 | PRDX1, PSEN1
|
| Presenilin-1 protects against neuronal apoptosis caused by its interacting protein PAG.
|
| Zhou Y, Zhang W, Easton R, Ray JW, Lampe P, Jiang Z, Brunkan AL, Goate A, Johnson EM, Wu JY.
|
| Neurobiol Dis 9(2):126-38. 2002
|
| 74 | PSEN1
|
| A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch.
|
| Amtul Z, Lewis PA, Piper S, Crook R, Baker M, Findlay K, Singleton A, Hogg M, Younkin L, Younkin SG, Hardy J, Hutton M, Boeve BF, Tang-Wai D, Golde TE.
|
| Neurobiol Dis 9(2):269-73. 2002
|
| 75 | PSEN1
|
| Presenilin couples the paired phosphorylation of beta-catenin independent of axin: implications for beta-catenin activation in tumorigenesis.
|
| Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH.
|
| Cell 110(6):751-62. 2002
|
| 76 | HERPUD1, PSEN1
|
| Endoplasmic reticulum stress-inducible protein, Herp, enhances presenilin-mediated generation of amyloid beta-protein.
|
| Sai X, Kawamura Y, Kokame K, Yamaguchi H, Shiraishi H, Suzuki R, Suzuki T, Kawaichi M, Miyata T, Kitamura T, De Strooper B, Yanagisawa K, Komano H.
|
| J Biol Chem 277(15):12915-20. Epub 2002 Jan 17. 2002
|
| 77 | PSEN1
|
| Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch.
|
| Lee SF, Shah S, Li H, Yu C, Han W, Yu G.
|
| J Biol Chem. 277(47):45013-9. 2002
|
| 78 | PSEN1
|
| Cyclin-dependent kinase-5/p35 phosphorylates Presenilin 1 to regulate carboxy-terminal fragment stability.
|
| Lau KF, Howlett DR, Kesavapany S, Standen CL, Dingwall C, McLoughlin DM, Miller CC.
|
| Mol Cell Neurosci. 20(1):13-20. 2002
|
| 79 | FBXW7, PSEN1
|
| SEL-10 interacts with presenilin 1, facilitates its ubiquitination, and alters A-beta peptide production.
|
| Li J, Pauley AM, Myers RL, Shuang R, Brashler JR, Yan R, Buhl AE, Ruble C, Gurney ME.
|
| J Neurochem. 82(6):1540-8. 2002
|
| 80 | PSEN1
|
| Accelerated plaque accumulation, associative learning deficits, and up-regulation of alpha 7 nicotinic receptor protein in transgenic mice co-expressing mutant human presenilin 1 and amyloid precursor proteins.
|
| Dineley KT, Xia X, Bui D, Sweatt JD, Zheng H.
|
| J Biol Chem. 277(25):22768-80. 2002
|
| 81 | PSEN1
|
| The -48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Abeta load in brain.
|
| Lambert JC, Mann DM, Harris JM, Chartier-Harlin MC, Cumming A, Coates J, Lemmon H, StClair D, Iwatsubo T, Lendon C.
|
| J Med Genet 38(6):353-5. 2001
|
| 82 | APP, PSEN1, PSEN2
|
| Presenilin, Notch, and the genesis and treatment of Alzheimer's disease.
|
| Selkoe DJ.
|
| Proc Natl Acad Sci U S A 98(20):11039-41. 2001
|
| 83 | PSEN1
|
| Presenilin-1 mutations reduce cytoskeletal association, deregulate neurite growth, and potentiate neuronal dystrophy and tau phosphorylation.
|
| Pigino G, Pelsman A, Mori H, Busciglio J.
|
| J Neurosci 21(3):834-42. 2001
|
| 84 | CREB1, PSEN1
|
| Activated cAMP-response element-binding protein regulates neuronal expression of presenilin-1.
|
| Mitsuda N, Ohkubo N, Tamatani M, Lee YD, Taniguchi M, Namikawa K, Kiyama H, Yamaguchi A, Sato N, Sakata K, Ogihara T, Vitek MP, Tohyama M.
|
| J Biol Chem 276(13):9688-98. 2001
|
| 85 | METTL2A, PSEN1
|
| Identification of a novel family of putative methyltransferases that interact with human and Drosophila presenilins.
|
| Zhang SX, Guo Y, Boulianne GL.
|
| Gene 280(1-2):135-44. 2001
|
| 86 | PARL, PSEN1, PSEN2, YME1L1
|
| PAMP and PARL, two novel putative metalloproteases interacting with the COOH-terminus of Presenilin-1 and -2.
|
| Pellegrini L, Passer BJ, Canelles M, Lefterov I, Ganjei JK, Fowlkes BJ, Koonin EV, D'Adamio L.
|
| J Alzheimers Dis 3(2):181-190. 2001
|
| 87 | PSEN1
|
| Interaction with telencephalin and the amyloid precursor protein predicts a ring structure for presenilins.
|
| Annaert WG, Esselens C, Baert V, Boeve C, Snellings G, Cupers P, Craessaerts K, De Strooper B.
|
| Neuron. 32(4):579-89. 2001
|
| 88 | PSEN1
|
| Deficient neurogenesis in forebrain-specific presenilin-1 knockout mice is associated with reduced clearance of hippocampal memory traces.
|
| Feng R, Rampon C, Tang YP, Shrom D, Jin J, Kyin M, Sopher B, Miller MW, Ware CB, Martin GM, Kim SH, Langdon RB, Sisodia SS, Tsien JZ.
|
| Neuron. 32(5):911-26. 2001
|
| 89 | PSEN1
|
| APP processing and synaptic plasticity in presenilin-1 conditional knockout mice.
|
| Yu H, Saura CA, Choi SY, Sun LD, Yang X, Handler M, Kawarabayashi T, Younkin L, Fedeles B, Wilson MA, Younkin S, Kandel ER, Kirkwood A, Shen J.
|
| Neuron. 31(5):713-26. 2001
|
| 90 | GDI1, PSEN1
|
| Alzheimer's presenilin 1 is a putative membrane receptor for rab GDP dissociation inhibitor.
|
| Scheper W, Zwart R, Sluijs P, Annaert W, Gool WA, Baas F.
|
| Hum Mol Genet 9(2):303-10 2000
|
| 91 | APP, PRNP, PSEN1, PSEN2
|
| High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
|
| Finckh U, Muller-Thomsen T, Mann U, Eggers C, Marksteiner J, Meins W, Binetti G, Alberici A, Hock C, Nitsch RM, Gal A.
|
| Am J Hum Genet 66(1):110-7. 2000
|
| 92 | PSEN1
|
| In search of gamma-secretase: presenilin at the cutting edge.
|
| Selkoe DJ, Wolfe MS.
|
| Proc Natl Acad Sci U S A 97(11):5690-2. No abstract available. 2000
|
| 93 | PSEN1
|
| Presenilin 1 is linked with gamma-secretase activity in the detergent solubilized state.
|
| Li YM, Lai MT, Xu M, Huang Q, DiMuzio-Mower J, Sardana MK, Shi XP, Yin KC, Shafer JA, Gardell SJ.
|
| Proc Natl Acad Sci U S A 97(11):6138-43. 2000
|
| 94 | PSEN1
|
| Separation of presenilin function in amyloid beta-peptide generation and endoproteolysis of Notch.
|
| Kulic L, Walter J, Multhaup G, Teplow DB, Baumeister R, Romig H, Capell A, Steiner H, Haass C.
|
| Proc Natl Acad Sci U S A 97(11):5913-8. 2000
|
| 95 | PSEN1, STX1A
|
| Identification of syntaxin 1A as a novel binding protein for presenilin-1.
|
| Smith SK, Anderson HA, Yu G, Robertson AG, Allen SJ, Tyler SJ, Naylor RL, Mason G, Wilcock GW, Roche PA, Fraser PE, Dawbarn D.
|
| Brain Res Mol Brain Res 78(1-2):100-7. 2000
|
| 96 | APP, NCSTN, PSEN1
|
| Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing.
|
| Yu G, Nishimura M, Arawaka S, Levitan D, Zhang L, Tandon A, Song YQ, Rogaeva E, Chen F, Kawarai T, Supala A, Levesque L, Yu H, Yang DS, Holmes E, Milman P, Liang Y, Zhang DM, Xu DH, Sato C, Rogaev E, Smith M, Janus C, Zhang Y, Aebersold R, Farrer LS, Sorbi S, Bruni A, Fraser P, St George-Hyslop P.
|
| Nature 407(6800):48-54. 2000
|
| 97 | PSEN1, PSEN2
|
| Presenilin-1 and -2 are molecular targets for gamma-secretase inhibitors.
|
| 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.
|
| J Biol Chem 275(44):34086-91. 2000
|
| 98 | FTLD, PSEN1
|
| Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.
|
| Raux G, Gantier R, Thomas-Anterion C, Boulliat J, Verpillat P, Hannequin D, Brice A, Frebourg T, Campion D.
|
| Neurology 55(10):1577-8. 2000
|
| 99 | APP, PSEN1
|
| Inhibiting amyloid precursor protein C-terminal cleavage promotes an interaction with presenilin 1.
|
| Verdile G, Martins RN, Duthie M, Holmes E, St George-Hyslop PH, Fraser PE.
|
| J Biol Chem. 275(27):20794-8. 2000
|
| 100 | PSEN1
|
| Presenilin-1 regulates neuronal differentiation during neurogenesis.
|
| Handler M, Yang X, Shen J.
|
| Development. 127(12):2593-606. 2000
|
| 101 | PSEN1
|
| Identification of ubiquilin, a novel presenilin interactor that increases presenilin protein accumulation.
|
| Mah AL, Perry G, Smith MA, Monteiro MJ.
|
| J Cell Biol. 151(4):847-62. 2000
|
| 102 | PSEN1
|
| Behavioral alterations associated with apoptosis and down-regulation of presenilin 1 in the brains of p53-deficient mice.
|
| Amson R, Lassalle JM, Halley H, Prieur S, Lethrosne F, Roperch JP, Israeli D, Gendron MC, Duyckaerts C, Checler F, Dausset J, Cohen D, Oren M, Telerman A.
|
| Proc Natl Acad Sci U S A. 97(10):5346-50. 2000
|
| 103 | PSEN1
|
| Presenilin is required for proper morphology and function of neurons in C. elegans.
|
| Wittenburg N, Eimer S, Lakowski B, Röhrig S, Rudolph C, Baumeister R.
|
| Nature 406(6793):306-9. 2000
|
| 104 | PSEN1
|
| Capacitative calcium entry deficits and elevated luminal calcium content in mutant presenilin-1 knockin mice.
|
| Leissring MA, Akbari Y, Fanger CM, Cahalan MD, Mattson MP, LaFerla FM.
|
| J Cell Biol. 149(4):793-8. 2000
|
| 105 | PSEN1
|
| Presenilin-1 regulates the neuronal threshold to excitotoxicity both physiologically and pathologically.
|
| Grilli M, Diodato E, Lozza G, Brusa R, Casarini M, Uberti D, Rozmahel R, Westaway D, St George-Hyslop P, Memo M, Ongini E.
|
| Proc Natl Acad Sci U S A. 97(23):12822-7. 2000
|
| 106 | PSEN1
|
| The glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease.
|
| Dermaut B, et al.
|
| Am J Hum Genet 64 : 290-292. 1999
|
| 107 | AD3, AD4, PSEN1, PSEN2
|
| A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2.
|
| Yasuda M, et al.
|
| Arch Neurol 56(1):65-9. 1999
|
| 108 | PSEN1
|
| Alzheimer's disease. In search of gamma-secretase.
|
| Hardy J, et al.
|
| Nature 398(6727):466-7. No abstract available 1999
|
| 109 | NOTCH4, PSEN1
|
| Neurogenic phenotypes and altered Notch processing in Drosophila Presenilin mutants.
|
| Ye Y, et al.
|
| Nature 398(6727):525-9. 1999
|
| 110 | NOTCH1, NOTCH2, NOTCH3, NOTCH4, PSEN1
|
| Presenilin is required for activity and nuclear access of Notch in Drosophila.
|
| Struhl G, et al.
|
| Nature 398(6727):522-5. 1999
|
| 111 | PSEN1
|
| Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity.
|
| Wolfe MS, et al.
|
| Nature 398(6727):513-7. 1999
|
| 112 | NOTCH1, NOTCH2, NOTCH3, NOTCH4, PSEN1
|
| A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain.
|
| De Strooper B, et al.
|
| Nature 398(6727):518-22. 1999
|
| 113 | AD3, PSEN1
|
| A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures.
|
| Ezquerra M, et al.
|
| Neurology 52(3):566-70. 1999
|
| 114 | PSEN1, PSEN2
|
| 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.
|
| FEBS Lett 445(1):149-54. 1999
|
| 115 | AD3, PSEN1
|
| Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased abeta42 secretion.
|
| Jonghe CD, et al.
|
| Hum Mol Genet 8(8):1529-40. 1999
|
| 116 | PSEN1, PSEN2
|
| 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.
|
| Hum Mol Genet 8(7):1263-9. 1999
|
| 117 | AD24, AD3, PSEN1
|
| YAC fragmentation with repetitive and single-copy sequences: detailed physical mapping of the presenilin 1 gene on chromosome 14.
|
| Del-Favero J, et al.
|
| Gene 229(1-2):193-201. 1999
|
| 118 | PSEN1
|
| Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA.
|
| Theuns J, et al.
|
| Mamm Genome 10(4):410-4. No abstract available 1999
|
| 119 | AD3, PSEN1, BCHE
|
| Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease.
|
| Tilley L, et al.
|
| Eur J Hum Genet 7(6):659-63 1999
|
| 120 | AD3, PSEN1
|
| Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample.
|
| van Duijn CM, Cruts M, Theuns J, Van Gassen G, Backhovens H, van den Broeck M, Wehnert A, Serneels S, Hofman A, Van Broeckhoven C.
|
| Eur J Hum Genet 7(7):801-6 1999
|
| 121 | MTCH1, PSEN1
|
| Identification of a novel PSD-95/Dlg/ZO-1 (PDZ)-like protein interacting with the C terminus of presenilin-1.
|
| Xu X, Shi Y, Wu X, Gambetti P, Sui D, Cui MZ.
|
| J Biol Chem 274(46):32543-6. 1999
|
| 122 | NOTCH1, PSEN1
|
| Evidence for a physical interaction between presenilin and Notch.
|
| Ray WJ, Yao M, Nowotny P, Mumm J, Zhang W, Wu JY, Kopan R, Goate AM.
|
| Proc Natl Acad Sci U S A. 96(6):3263-8 1999
|
| 123 | PSEN1
|
| 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.
|
| J Neurochem. 72(3):999-1008. 1999
|
| 124 | BCL2, PSEN1
|
| Presenilin 1 protein directly interacts with Bcl-2.
|
| Alberici A, Moratto D, Benussi L, Gasparini L, Ghidoni R, Gatta LB, Finazzi D, Frisoni GB, Trabucchi M, Growdon JH, Nitsch RM, Binetti G.
|
| J Biol Chem. 274(43):30764-9. 1999
|
| 125 | PSEN1
|
| Interaction of Alzheimer's presenilin-1 and presenilin-2 with Bcl-X(L). A potential role in modulating the threshold of cell death.
|
| Passer BJ, Pellegrini L, Vito P, Ganjei JK, D'Adamio L.
|
| J Biol Chem. 274(34):24007-13. 1999
|
| 126 | PSEN1
|
| Presenilin-1 forms complexes with the cadherin/catenin cell-cell adhesion system and is recruited to intercellular and synaptic contacts.
|
| Georgakopoulos A, Marambaud P, Efthimiopoulos S, Shioi J, Cui W, Li HC, Schütte M, Gordon R, Holstein GR, Martinelli G, Mehta P, Friedrich VL Jr, Robakis NK.
|
| Mol Cell. 4(6):893-902. 1999
|
| 127 | PSEN1
|
| Mice lacking both presenilin genes exhibit early embryonic patterning defects.
|
| Donoviel DB, Hadjantonakis AK, Ikeda M, Zheng H, Hyslop PS, Bernstein A.
|
| Genes Dev. 13(21):2801-10. 1999
|
| 128 | AD3, AD4, PSEN1, PSEN2
|
| Presenilin mutations in Alzheimer's disease.
|
| Cruts M, Van Broeckhoven C.
|
| Hum Mutat 11(3):183-90. 1998
|
| 129 | AD3, PSEN1
|
| A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.
|
| Tysoe C, Whittaker J, Xuereb J, Cairns NJ, Cruts M, Van Broeckhoven C, Wilcock G, Rubinsztein DC.
|
| Am J Hum Genet 62(1):70-6. 1998
|
| 130 | AD1, PSEN1
|
| Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein.
|
| De Strooper B, et al.
|
| Nature 391 : 387-390. 1998
|
| 131 | AD24, PSEN1
|
| A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.
|
| Crook R, et al.
|
| Nat Med 4 : 452-455. 1998
|
| 132 | AD3, PSEN1
|
| De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases.
|
| Dumanchin C, et al.
|
| J Med Genet 35 : 672-673. 1998
|
| 133 | AD3, PSEN1
|
| Presenilin-1 mutations associated with familial Alzheimer's disease do not disrupt protein transport from the endoplasmic reticulum to the Golgi apparatus.
|
| Tan Y, Hong J, Doan T, McConlogue L, Maltese WA.
|
| Biochim Biophys Acta 1407 : 69-78. 1998
|
| 134 | AD3, PSEN1
|
| Fine mapping of 12 previously unassigned EST clones to individual YACs in the familial Alzheimer's disease (FAD) region of chromosome 14q24.3.
|
| Ardley HC, et al.
|
| Cytogenet Cell Genet 82 : 107-109. 1998
|
| 135 | AD3, PSEN1
|
| Presenilin 1 mutations linked to familial Alzheimer's disease increase the intracellular levels of amyloid beta-protein 1-42 and its N-terminally truncated variants(s) which are generated at distinct sites.
|
| Sudoh S, et al.
|
| J Neurochem 71 : 1535-1543. 1998
|
| 136 | AD3, PSEN1
|
| of the presenilin-1 gene does not necessarily cause Alzheimer's disease.
|
| Mattila KM, et al.
|
| Ann Neurol 44 : 965-967. 1998
|
| 137 | AD3, AD4, PSEN1, PSEN2
|
| Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
|
| 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.
|
| Hum Mol Genet 7(1):43-51 1998
|
| 138 | MAPT, PSEN1
|
| Presenilin 1 associates with glycogen synthase kinase-3beta and its substrate tau.
|
| Takashima A, Murayama M, Murayama O, Kohno T, Honda T, Yasutake K, Nihonmatsu N, Mercken M, Yamaguchi H, Sugihara S, Wolozin B.
|
| Proc Natl Acad Sci U S A. 95(16):9637-41. 1998
|
| 139 | PSEN1
|
| The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin.
|
| Yu G, Chen F, Levesque G, Nishimura M, Zhang DM, Levesque L, Rogaeva E, Xu D, Liang Y, Duthie M, St George-Hyslop PH, Fraser PE.
|
| J Biol Chem. 273(26):16470-5. 1998
|
| 140 | PSEN1
|
| Cell surface presenilin-1 participates in the gamma-secretase-like proteolysis of Notch.
|
| Ray WJ, Yao M, Mumm J, Schroeter EH, Saftig P, Wolfe M, Selkoe DJ, Kopan R, Goate AM.
|
| J Biol Chem. 274(51):36801-7. 1998
|
| 141 | PSEN1
|
| Interaction of presenilins with the filamin family of actin-binding proteins.
|
| Zhang W, Han SW, McKeel DW, Goate A, Wu JY.
|
| J Neurosci. 18(3):914-22. 1998
|
| 142 | PSEN1
|
| Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease.
|
| Rogaev EI, et al.
|
| Genomics 40 : 415-424. 1997
|
| 143 | AD3, PSEN1
|
| Presenilin-1 gene intronic polymorphism in sporadic and familial Alzheimer's disease.
|
| Sorbi S, et al.
|
| Neurosci Lett 222 : 132-134. 1997
|
| 144 | PSEN1
|
| Evidence for a six-transmembrane domain structure of presenilin 1.
|
| Lehmann S, et al.
|
| J Biol Chem 272 : 12047-12051. 1997
|
| 145 | AD3, PSEN1
|
| A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI.
|
| Aoki M, et al.
|
| Neurology 48 : 1118-1120. 1997
|
| 146 | AD3, PSEN1
|
| A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.
|
| Gomez-Isla T, Wasco W, Pettingell WP, Gurubhagavatula S, Schmidt SD, Jondro PD, McNamara M, Rodes LA, DiBlasi T, Growdon WB, Seubert P, Schenk D, Growdon JH, Hyman BT, Tanzi RE.
|
| Ann Neurol 41(6):809-13. 1997
|
| 147 | AD3, PSEN1
|
| Increased A beta 42(43)-plaque deposition in early-onset familial Alzheimer's disease brains with the deletion of exon 9 and the missense point mutation (H163R) in the PS-1 gene.
|
| Ishii K, Ii K, Hasegawa T, Shoji S, Doi A, Mori H.
|
| Neurosci Lett 228(1):17-20. 1997
|
| 148 | PSEN1
|
| Presenilin-1 polymorphism and hereditary cerebral hemorrhage with amyloidosis, Dutch type.
|
| Bornebroek M, Haan J, Backhovens H, Deutz P, Van Buchem MA, van den Broeck M, Bakker E, Roos RA, Van Broeckhoven C.
|
| Ann Neurol 42(1):108-10. 1997
|
| 149 | AD24, PSEN1
|
| Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.
|
| Crook R, Ellis R, Shanks M, Thal LJ, Perez-Tur J, Baker M, Hutton M, Haltia T, Hardy J, Galasko D.
|
| Ann Neurol 42(1):124-8. 1997
|
| 150 | AD3, PSEN1
|
| E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles.
|
| Lendon CL, Martinez A, Behrens IM, Kosik KS, Madrigal L, Norton J, Neuman R, Myers A, Busfield F, Wragg M, Arcos M, Arango Viana JC, Ossa J, Ruiz A, Goate AM, Lopera F.
|
| Hum Mutat 10(3):186-95. 1997
|
| 151 | 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
|
| 152 | AD1, PSEN1
|
| A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease.
|
| Forsell C, Froelich S, Axelman K, Vestling M, Cowburn RF, Lilius L, Johnston JA, Engvall B, Johansson K, Dahlkild A, Ingelson M, St George-Hyslop PH, Lannfelt L.
|
| Neurosci Lett 234(1):3-6. 1997
|
| 153 | AD24, PSEN1
|
| Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.
|
| Kwok JBJ, et al.
|
| NeuroReport 8 : 1537-1542. 1997
|
| 154 | CTNND2, PSEN1
|
| Presenilin 1 interaction in the brain with a novel member of the Armadillo family.
|
| Zhou J, et al.
|
| Neuroreport 8 : 2085-2090. 1997
|
| 155 | APP, PSEN1, PSEN2
|
| 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
|
| 156 | PSEN1
|
| Skeletal and CNS defects in Presenilin-1-deficient mice.
|
| Shen J, Bronson RT, Chen DF, Xia W, Selkoe DJ, Tonegawa S.
|
| Cell. 89(4):629-39. 1997
|
| 157 | AD3, AD4, PSEN1, PSEN2
|
| Alzheimer-associated presenilins 1 and 2 : neuronal expression in brain and localization to intracellular membranes in mammalian cells.
|
| Kovacs DM, et al.
|
| Nat Med 2 : 224-229. 1996
|
| 158 | AD3, PSEN1
|
| Mutation analysis of presenilin 1 gene in Alzheimer's disease.
|
| Boteva K, et al.
|
| Lancet 347 : 130-131. 1996
|
| 159 | AD3, PSEN1
|
| Conservation of synteny between the genome of the pufferfish (Fugu rubripes) and the region on human chromosome 14 (14q24.3) associated with familial Alzheimer disease (AD3 locus).
|
| Trower MK, et al.
|
| Proc Natl Acad Sci U S A 93 : 1366-1369. 1996
|
| 160 | AD3, PSEN1
|
| Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease.
|
| Wragg M, et al.
|
| Lancet 347 : 509-512. 1996
|
| 161 | AD3, PSEN1
|
| Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families.
|
| Kamino K, et al.
|
| Neurosci Lett 208 : 195-198. 1996
|
| 162 | AD3, PSEN1
|
| Assignment of Alzheimer's presenilin-1 (PS-1) gene to 14q24.3 by fluorescence in situ hybridization.
|
| Takano T, et al.
|
| Neurosci Lett 214 : 69-71. 1996
|
| 163 | AD3, PSEN1
|
| A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis.
|
| Reznik-Wolf H, et al.
|
| Hum Genet 98 : 700-702. 1996
|
| 164 | AD3, AD4, PSEN1, PSEN2
|
| 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
|
| 165 | AD3, PSEN1
|
| Familial Alzheimer's disease co-segregates with a Met146Ile substitution in presenilin-1.
|
| Jšrgensen P, et al.
|
| Clin Genet 50 : 281-286. 1996
|
| 166 | AD3, PSEN1
|
| The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.
|
| Ikeda M, et al.
|
| Ann Neurol 40 : 912-917. 1996
|
| 167 | PSEN1
|
| The E280A presenilin 1 Alzheimer mutation produces increased Abeta42 deposition and severe cerebellar pathology.
|
| Lemere CA, et al.
|
| Nat Med 2 : 1146-1150. 1996
|
| 168 | PSEN1
|
| Identification and characterization of presenilin I-467, I-463 and I-374.
|
| Sahara N, Yahagi Y, Takagi H, Kondo T, Okochi M, Usami M, Shirasawa T, Mori H.
|
| FEBS Lett 381(1-2):7-11. 1996
|
| 169 | PSEN1
|
| Alzheimer's presenilin 1 gene expression in platelets and megakaryocytes. Identification of a novel splice variant.
|
| Vidal R, Ghiso J, Wisniewski T, Frangione B.
|
| FEBS Lett 393(1):19-23. 1996
|
| 170 | 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
|
| 171 | AD3, PSEN1
|
| Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.
|
| Cruts M, et al.
|
| Hum Mol Genet 4 : 2363-2371. 1995
|
| 172 | 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
|
| 173 | AD4, PSEN1, PSEN2
|
| 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
|
| 174 | AD3, PSEN1, NUMB, EIF2B2 , RGS6 , VWM2
|
| Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
|
| Sherrington R, et al.
|
| Nature 375 : 754-760. 1995
|