| 1 | ACNINV2, PSENEN
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| A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.
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| Pavlovsky M, Sarig O, Eskin-Schwartz M, Malchin N, Bochner R, Mohamad J, Gat A, Peled A, Hafner A, Sprecher E.
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| Br J Dermatol 178(2):502-508. doi: 10.1111/bjd.16000. Epub 2017 Dec 18.
2018
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| 2 | ACNINV2, PSENEN
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| Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
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| Ralser DJ, Basmanav FB, Tafazzoli A, Wititsuwannakul J, Delker S, Danda S, Thiele H, Wolf S, Busch M, Pulimood SA, Altmüller J, Nürnberg P, Lacombe D, Hillen U, Wenzel J, Frank J, Odermatt B, Betz RC.
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| J Clin Invest 127(4):1485-1490. doi: 10.1172/JCI90667. Epub 2017 Mar 13.
2017
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| 3 | 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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| 4 | ACNINV2, PSENEN
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| PSENEN c.66delG in sporadic acne inversa.
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| Liu Y, Miao T, Ma J, Shao L, Luo S, Li Y, Liu Q.
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| Eur J Dermatol 26(3):298-9. doi: 10.1684/ejd.2016.2742. No abstract available.
2016
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| 5 | PSENEN
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| The topology of pen-2, a γ-secretase subunit, revisited: evidence for a reentrant loop and a single pass transmembrane domain.
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| Zhang X, Yu CJ, Sisodia SS.
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| Mol Neurodegener 10:39. doi: 10.1186/s13024-015-0037-4.
2015
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| 6 | NCSTN, PSENEN
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| Structural basis of human γ-secretase assembly.
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| Sun L, Zhao L, Yang G, Yan C, Zhou R, Zhou X, Xie T, Zhao Y, Wu S, Li X, Shi Y.
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| Proc Natl Acad Sci U S A 112(19):6003-8. doi: 10.1073/pnas.1506242112. Epub 2015 Apr 27.
2015
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| 7 | PSENEN
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| Pen-2 is essential for γ-secretase complex stability and trafficking but partially dispensable for endoproteolysis.
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| Holmes O, Paturi S, Selkoe DJ, Wolfe MS.
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| Biochemistry 53(27):4393-406. doi: 10.1021/bi500489j. Epub 2014 Jun 30.
2014
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| 8 | FTL, PSENEN
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| Ferritin light chain interacts with PEN-2 and affects γ-secretase activity.
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| Li X, Liu Y, Zheng Q, Yao G, Cheng P, Bu G, Xu H, Zhang YW.
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| Neurosci Lett 548:90-4. doi: 10.1016/j.neulet.2013.05.018. Epub 2013 May 15.
2013
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| 9 | PSENEN, U2AF1L4
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| Human PSENEN and U2AF1L4 genes are concertedly regulated by a genuine bidirectional promoter.
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| Didych DA, Shamsutdinov MF, Smirnov NA, Akopov SB, Monastyrskaya GS, Uspenskaya NY, Nikolaev LG, Sverdlov ED.
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| Gene 515(1):34-41. doi: 10.1016/j.gene.2012.11.058. Epub 2012 Dec 14.
2013
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| 10 | ACNINV2, PSENEN
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| Mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa).
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| Pink AE, Simpson MA, Desai N, Dafou D, Hills A, Mortimer P, Smith CH, Trembath RC, Barker JNW.
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| J Invest Dermatol 132(10):2459-2461. doi: 10.1038/jid.2012.162. Epub 2012 May 24. No abstract available.
2012
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| 11 | ACNINV2, PSENEN
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| Gamma-secretase gene mutations in familial acne inversa.
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| Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, Lv D, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X.
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| Science 330(6007):1065. doi: 10.1126/science.1196284. Epub 2010 Oct 7.
2010
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| 12 | PSENEN
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| p53-dependent control of transactivation of the Pen2 promoter by presenilins.
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| Dunys J, Sevalle J, Giaime E, Pardossi-Piquard R, Vitek MP, Renbaum P, Levy-Lahad E, Zhang YW, Xu H, Checler F, da Costa CA.
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| J Cell Sci 122(Pt 21):4003-8. doi: 10.1242/jcs.051169.
2009
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| 13 | 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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| 14 | PSENEN, RER1
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| Endoplasmic reticulum retention of the gamma-secretase complex component Pen2 by Rer1.
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| Kaether C, Scheuermann J, Fassler M, Zilow S, Shirotani K, Valkova C, Novak B, Kacmar S, Steiner H, Haass C.
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| EMBO Rep 8(8):743-8. Epub 2007 Jul 6.
2007
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| 15 | APH1A, APH1B, LMAN1, NCSTN, PSENEN
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| N-glycosylation of human nicastrin is required for interaction with the lectins from the secretory pathway calnexin and ERGIC-53.
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| Morais VA, Brito C, Pijak DS, Crystal AS, Fortna RR, Li T, Wong PC, Doms RW, Costa J.
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| Biochim Biophys Acta 1762(9):802-10. Epub 2006 Jul 26.
2006
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| 16 | 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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| 17 | PSEN1, PSENEN
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| A sequence within the first transmembrane domain of PEN-2 is critical for PEN-2-mediated endoproteolysis of presenilin 1.
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| Kim SH, Sisodia SS.
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| J Biol Chem 280(3):1992-2001. Epub 2004 Nov 10. 2005
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| 18 | PSENEN
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| PEN-2 gene mutation in a familial Alzheimer's disease case.
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| Sala Frigerio C, Piscopo P, Calabrese E, Crestini A, Malvezzi Campeggi L, Civita di Fava R, Fogliarino S, Albani D, Marcon G, Cherchi R, Piras R, Forloni G, Confaloni A.
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| J Neurol 252(9):1033-6. Epub 2005 Mar 16. 2005
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| 19 | PSEN1, PHB, NCSTN, PSENEN, APH1A
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| Purification and characterization of the human gamma-secretase complex.
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| Fraering PC, Ye W, Strub JM, Dolios G, LaVoie MJ, Ostaszewski BL, van Dorsselaer A, Wang R, Selkoe DJ, Wolfe MS.
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| Biochemistry 43(30):9774-89. 2004
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| 20 | PSENEN
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| Membrane topology of gamma-secretase component PEN-2.
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| Crystal AS, Morais VA, Pierson TC, Pijak DS, Carlin D, Lee VM, Doms RW.
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| J Biol Chem 278(22):20117-23. Epub 2003 Mar 14. 2003
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| 21 | APH1A, APH1B, NCSTN, PSENEN, PSEN1, PSEN2
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| APH1, PEN2, and Nicastrin increase Abeta levels and gamma-secretase activity.
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| 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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| 22 | APH1A, PSENEN, PSEN1
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| The role of presenilin cofactors in the gamma-secretase complex.
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| Takasugi N, Tomita T, Hayashi I, Tsuruoka M, Niimura M, Takahashi Y, Thinakaran G, Iwatsubo T.
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| Nature 422(6930):438-41. Epub 2003 Mar 16. 2003
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| 23 | PSENEN
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| PEN-2 is an integral component of the gamma-secretase complex required for coordinated expression of presenilin and nicastrin.
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| Steiner H, Winkler E, Edbauer D, Prokop S, Basset G, Yamasaki A, Kostka M, Haass C.
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| J Biol Chem 277(42):39062-5. Epub 2002 Aug 26. 2002
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| 24 | APH1A, APH1B, PSENEN
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| aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation.
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| Francis R, McGrath G, Zhang J, Ruddy DA, Sym M, Apfeld J, Nicoll M, Maxwell M, Hai B, Ellis MC, Parks AL, Xu W, Li J, Gurney M, Myers RL, Himes CS, Hiebsch R, Ruble C, Nye JS, Curtis D.
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| Dev Cell 3(1):85-97. 2002
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