OMIM Entry – * 104311 – PRESENILIN 1; PSEN1

Alzheimer's Disease Collaborative Group. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nature Genet. 11: 219-222, 1995. [PubMed: 7550356] [Full Text: https://dx.doi.org/10.1038/ng1095-219%5D

Ataka, S., Tomiyama, T., Takuma, H., Yamashita, T., Shimada, H., Tsutada, T., Kawabata, K., Mori, H., Miki, T. A novel presenilin-1 mutation (leu85pro) in early-onset Alzheimer disease with spastic paraparesis. Arch. Neurol. 61: 1773-1776, 2004. [PubMed: 15534188] [Full Text: https://jamanetwork.com/journals/jamaneurology/fullarticle/10.1001/archneur.61.11.1773%5D

Athan, E. S., Williamson, J., Ciappa, A., Santana, V., Romas, S. N., Lee, J. H., Rondon, H., Lantigua, R. A., Medrano, M., Torres, M., Arawaka, S., Rogaeva, E., and 10 others. A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. JAMA 286: 2257-2263, 2001. [PubMed: 11710891] [Full Text: https://jamanetwork.com/journals/jama/fullarticle/vol/286/pg/2257%5D

Bai, G., Chivatakarn, O., Bonanomi, D., Lettieri, K., Franco, L., Xia, C., Stein, E., Ma, L., Lewcock, J. W., Pfaff, S. L. Presenilin-dependent receptor processing is required for axon guidance. Cell 144: 106-118, 2011. [PubMed: 21215373] [Full Text: https://linkinghub.elsevier.com/retrieve/pii/S0092-8674(10)01375-9%5D

Bai, X., Yan, C., Yang, G., Lu, P., Ma, D., Sun, L., Zhou, R., Scheres, S. H. W., Shi, Y. An atomic structure of human gamma-secretase. Nature 525: 212-217, 2015. [PubMed: 26280335] [Full Text: https://doi.org/10.1038/nature14892%5D

Beck, J. A., Poulter, M., Campbell, T. A., Uphill, J. B., Adamson, G., Geddes, J. F., Revesz, T., Davis, M. B., Wood, N. W., Collinge, J., Tabrizi, S. J. Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease. Hum. Molec. Genet. 13: 1219-1224, 2004. [PubMed: 15115757] [Full Text: https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddh134%5D

Beglopoulos, V., Sun, X., Saura, C. A., Lemere, C. A., Kim, R. D., Shen, J. Reduced beta-amyloid production and increased inflammatory responses in presenilin conditional knock-out mice. J. Biol. Chem. 279: 46907-46914, 2004. [PubMed: 15345711] [Full Text: http://www.jbc.org/cgi/pmidlookup?view=long&pmid=15345711%5D

Bertoli Avella, A. M., Teruel, B. M., Llibre Rodriguez, J. J., Gomez Viera, N., Borrajero Martinez, I., Severijnen, E. A., Joosse, M., van Duijn, C. M., Heredero Baute, L., Heutink, P. A novel presenilin 1 mutation (L174M) in a large Cuban family with early onset Alzheimer disease. Neurogenetics 4: 97-104, 2002. [PubMed: 12484344]

Borchelt, D. R., Thinakaran, G., Eckman, C. B., Lee, M. K., Davenport, F., Ratovitsky, T., Prada, C.-M., Kim, G., Seekins, S., Yager, D., Slunt, H. H., Wang, R., Seeger, M., Levey, A. I., Gandy, S. E., Copeland, N. G., Jenkins, N. A., Price, D. L., Younkin, S. G, Sisodia, S. S. Familial Alzheimer's disease-linked presenilin 1 variants elevate A-beta-1-42/1-40 ratio in vitro and in vivo. Neuron 17: 1005-1013, 1996. [PubMed: 8938131] [Full Text: https://linkinghub.elsevier.com/retrieve/pii/S0896-6273(00)80230-5%5D

Bruni, A. C., Bernardi, L., Colao, R., Rubino, E., Smirne, N., Frangipane, F., Terni, B., Curcio, S. A. M., Mirabelli, M., Clodomiro, A., Di Lorenzo, R., Maletta, R., and 23 others. Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. Neurology 74: 798-806, 2010. [PubMed: 20164095] [Full Text: http://www.neurology.org/cgi/pmidlookup?view=long&pmid=20164095%5D

Buckler, A. J., Chang, D. D., Graw, S. L., Brook, J. D., Haber, D. A., Sharp, P. A., Housman, D. E. Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proc. Nat. Acad. Sci. 88: 4005-4009, 1991. [PubMed: 1850845] [Full Text: http://www.pnas.org/cgi/pmidlookup?view=long&pmid=1850845%5D

Cai, D., Netzer, W. J., Zhong, M., Lin, Y., Du, G., Frohman, M., Foster, D. A., Sisodia, S. S., Xu, H., Gorelick, F. S., Greengard, P. Presenilin-1 uses phospholipase D1 as a negative regulator of beta-amyloid formation. Proc. Nat. Acad. Sci. 103: 1941-1946, 2006. [PubMed: 16449386] [Full Text: http://www.pnas.org/cgi/pmidlookup?view=long&pmid=16449386%5D

Cai, D., Zhong, M., Wang, R., Netzer, W. J., Shields, D., Zheng, H., Sisodia, S. S., Foster, D. A., Gorelick, F. S., Xu, H., Greengard, P. Phospholipase D1 corrects impaired beta-APP trafficking and neurite outgrowth in familial Alzheimer's disease-linked presenilin-1 mutant neurons. Proc. Nat. Acad. Sci. 103: 1936-1940, 2006. [PubMed: 16449385] [Full Text: http://www.pnas.org/cgi/pmidlookup?view=long&pmid=16449385%5D

Chau, D.-M., Crump, C. J., Villa, J. C., Scheinberg, D. A., Li, Y.-M. Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of gamma-secretase. J. Biol. Chem. 287: 17288-17296, 2012. [PubMed: 22461631] [Full Text: http://www.jbc.org/cgi/pmidlookup?view=long&pmid=22461631%5D

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, D. J. Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice. Nature Med. 3: 67-72, 1997. [PubMed: 8986743]

Clark, R. F., Hutton, M., Talbot, C., Wragg, M., Lendon, C., Busfield, F., Han, S. W., Perez-Tur, J., Adams, M., Fuldner, R., Roberts, G., Karran, E., Hardy, J., Goate, A. The role of presenilin 1 in the genetics of Alzheimer's disease. Cold Spring Harbor Symp. Quant. Biol. 61: 551-558, 1996. [PubMed: 9246481] [Full Text: http://symposium.cshlp.org/cgi/pmidlookup?view=long&pmid=9246481%5D

Crook, R., Verkkoniemi, A., Perez-Tur, J., Mehta N., Baker, M., Houlden, H., Farrer, M., Hutton, M., Lincoln, S., Hardy, J., Gwinn, K., Somer, M., Paetau, A., Kalimo, H., Ylikoski, R., Poyhonen, M., Kucera, S., Haltia, M. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nature Med. 4: 452-455, 1998. [PubMed: 9546792]

Cruts, M., Van Broeckhoven, C. Presenilin mutations in Alzheimer's disease. Hum. Mutat. 11: 183-190, 1998. [PubMed: 9521418] [Full Text: https://doi.org/10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J]

Cruts, M., van Duijn, C. M., Backhovens, H., Van den Broeck, M., Wehnert, A., Serneels, S., Sherrington, R., Hutton, M., Hardy, J., St George-Hyslop, P. H., Hofman, A., Van Broeckhoven, C. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum. Molec. Genet. 7: 43-51, 1998. [PubMed: 9384602]

Davis, J. A., Naruse, S., Chen, H., Eckman, C., Younkin, S., Price, D. L., Borchelt, D. R., Sisodia, S. S., Wong, P. C. An Alzheimer's disease-linked PS1 variant rescues the developmental abnormalities of PS1-deficient embryos. Neuron 20: 603-609, 1998. [PubMed: 9539132] [Full Text: https://linkinghub.elsevier.com/retrieve/pii/S0896-6273(00)80998-8%5D

De Jonghe, C., Cruts, M., Rogaeva, E. A., Tysoe, C., Singleton, A., Vanderstichele, H., Meschino, W., Dermaut, B., Vanderhoeven, I., Backhovens, H., Vanmechelen, E., Morris, C. M., Hardy, J., Rubinsztein, D. C., St George-Hyslop, P. H., Van Broeckhoven, C. Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased A-beta-42 secretion. Hum. Molec. Genet. 8: 1529-1540, 1999. [PubMed: 10401002]

De Strooper, B., Annaert, W., Cupers, P., Saftig, P., Craessaerts, K., Mumm, J. S., Schroeter, E. H., Schrijvers, V., Wolfe, M. S., Ray, W. J., Goate, A., Kopan, R. A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain. Nature 398: 518-522, 1999. [PubMed: 10206645] [Full Text: https://doi.org/10.1038/19083%5D

De Strooper, B., Saftig, P., Craessaerts, K., Vanderstichele, H., Guhde, G., Annaert, W., Von Figura, K., Van Leuven, F. Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein. Nature 391: 387-390, 1998. [PubMed: 9450754] [Full Text: https://doi.org/10.1038/34910%5D

De Strooper, B. Aph-1, Pen-2, and nicastrin with presenilin generate an active gamma-secretase complex. Neuron 38: 9-12, 2003. [PubMed: 12691659] [Full Text: https://linkinghub.elsevier.com/retrieve/pii/S0896627303002058%5D

Dermaut, B., Cruts, M., Slooter, A. J. C., Van Gestel, S., De Jonghe, C., Vanderstichele, H., Vanmechelen, E., Breteler, M. M., Hofman, A., van Duijn, C. M., Van Broeckhoven, C. The glu318-to-gly substitution in presenilin 1 is not causally related to Alzheimer disease. (Letter) Am. J. Hum. Genet. 64: 290-292, 1999. [PubMed: 9915968] [Full Text: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61682-6%5D

Dermaut, B., Kumar-Singh, S., Engelborghs, S., Theuns, J., Rademakers, R., Saerens, J., Pickut, B. A., Peeters, K., van den Broeck, M., Vennekens, K., Claes, S., Cruts, M., Cras, P., Martin, J.-J., Van Broeckhoven, C., De Deyn, P. P. A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Ann. Neurol. 55: 617-626, 2004. [PubMed: 15122701] [Full Text: https://doi.org/10.1002/ana.20083%5D

Devi, G., Fotiou, A., Jyrinji, D., Tycko, B., DeArmand, S., Rogaeva, E., Song, Y.-Q., Medieros, H., Liang, Y., Orlacchio, A., Williamson, J., St George-Hyslop, P., Mayeux, R. Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease. Arch. Neurol. 57: 1454-1457, 2000. [PubMed: 11030797] [Full Text: https://jamanetwork.com/journals/jamaneurology/fullarticle/vol/57/pg/1454%5D

Dineley, K. T., Xia, X., Bui, D., Sweatt, J. D., Zheng, H. 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. J. Biol. Chem. 277: 22768-22780, 2002. [PubMed: 11912199] [Full Text: http://www.jbc.org/cgi/pmidlookup?view=long&pmid=11912199%5D

Dolzhanskaya, N., Gonzalez, M. A., Sperziani, F., Stefl, S., Messing, J., Wen, G. Y., Alexov, E., Zuchner, S., Velinov, M. A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. J. Alzheimers Dis. 39: 23-27, 2014. [PubMed: 24121961] [Full Text: https://content.iospress.com/openurl?genre=article&id=doi:10.3233/JAD-131340%5D

Donoviel, D. B., Hadjantonakis, A.-K., Ikeda, M., Zheng, H., St George Hyslop, P., Bernstein, A. Mice lacking both presenilin genes exhibit early embryonic patterning defects. Genes Dev. 13: 2801-2810, 1999. [PubMed: 10557208] [Full Text: http://www.genesdev.org/cgi/pmidlookup?view=long&pmid=10557208%5D

Duff, K., Eckman, C., Zehr, C., Yu, X, Prada, C.-M., Perez-tur, J., Hutton, M., Buee, L., Harigaya, Y., Yager, D., Morgan, D., Gordon, M. N., Holcomb, L., Refolo, L., Zenk, B., Hardy, J., Youndkin, S. Increased amyloid-beta-42(43) in brains of mice expressing mutant presenilin 1. Nature 383: 710-713, 1996. [PubMed: 8878479] [Full Text: https://doi.org/10.1038/383710a0%5D

Esselens, C., Oorschot, V., Baert, V., Raemaekers, T., Spittaels, K., Serneels, L., Zheng, H., Saftig, P., De Strooper, B., Klumperman, J., Annaert, W. Presenilin 1 mediates the turnover of telencephalin in hippocampal neurons via an autophagic degradative pathway. J. Cell Biol. 166: 1041-1054, 2004. [PubMed: 15452145] [Full Text: http://jcb.rupress.org/cgi/pmidlookup?view=long&pmid=15452145%5D

Feng, R., Rampon, C., Tang, Y.-P., Shrom, D., Jin, J., Kyin, M., Sopher, B., Miller, M. W., Ware, C. B., Martin, G. M., Kim, S. H., Langdon, R. B., Sisodia, S. S., Tsien, J. Z. Deficient neurogenesis in forebrain-specific presenilin-1 knockout mice is associated with reduced clearance of hippocampal memory traces. Neuron 32: 911-926, 2001. Note: Erratum: Neuron 33: 313 only, 2002. [PubMed: 11738035] [Full Text: https://linkinghub.elsevier.com/retrieve/pii/S0896-6273(01)00523-2%5D

Fox, N. C., Kennedy, A. M., Harvey, R. J., Lantos, P. L., Roques, P. K., Collinge, J., Hardy, J., Hutton, M., Stevens, J. M., Warrington, E. K., Rossor, M. N. Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene: pedigree but not mutation specific age at onset provides evidence for a further genetic factor. Brain 120: 491-501, 1997. [PubMed: 9126060]

Francis, R., McGrath, G., Zhang, J., Ruddy, D. A., Sym, M., Apfeld, J., Nicoll, M., Maxwell, M., Hai, B., Ellis, M. C., Parks, A. L., Xu, W., Li, J., Gurney, M., Myers, R. L., Himes, C. S., Hiebsch, R., Ruble, C., Nye, J. S., Curtis, D. aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of beta-APP, and presenilin protein accumulation. Dev. Cell 3: 85-97, 2002. [PubMed: 12110170] [Full Text: https://linkinghub.elsevier.com/retrieve/pii/S1534-5807(02)00189-2%5D

Ganguly, A., Feldman, R. M. R., Guo, M. Ubiquilin antagonizes presenilin and promotes neurodegeneration in Drosophila. Hum. Molec. Genet. 17: 293-302, 2008. [PubMed: 17947293] [Full Text: https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddm305%5D

Georgakopoulos, A., Marambaud, P., Efthimiopoulos, S., Shioi, J., Cui, W., Li, H.-C., Schutte, M., Gordon, R., Holstein, G. R., Martinelli, G., Mehta, P., Friedrich, V. L., Jr., Robakis, N. K. Presenilin-1 forms complexes with the cadherin/catenin cell-cell adhesion system and is recruited to intercellular and synaptic contacts. Molec. Cell 4: 893-902, 1999. [PubMed: 10635315] [Full Text: https://linkinghub.elsevier.com/retrieve/pii/S1097-2765(00)80219-1%5D

Godbolt, A. K., Beck, J. A., Collinge, J., Garrard, P., Warren, J. D., Fox, N. C., Rossor, M. N. A presenilin 1 R278I mutation presenting with language impairment. Neurology 63: 1702-1704, 2004. [PubMed: 15534260] [Full Text: http://www.neurology.org/cgi/pmidlookup?view=long&pmid=15534260%5D

Goldman, J. S., Johnson, J. K., McElligott, K., Suchowersky, O., Miller, B. L., Van Deerlin, V. M. Presenilin 1 Glu318Gly polymorphism: interpret with caution. Arch. Neurol. 62: 1624-1627, 2005. [PubMed: 16216949] [Full Text: https://jamanetwork.com/journals/jamaneurology/fullarticle/10.1001/archneur.62.10.1624%5D

Grilli, M., Diodato, E., Lozza, G., Brusa, R., Casarini, M., Uberti, D., Rozmahel, R., Westaway, D., St George-Hyslop, P., Memo, M., Ongini, E. Presenilin-1 regulates the neuronal threshold to excitotoxicity both physiologically and pathologically. Proc. Nat. Acad. Sci. 97: 12822-12827, 2000. [PubMed: 11070093] [Full Text: http://www.pnas.org/cgi/pmidlookup?view=long&pmid=11070093%5D

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Handler, M., Yang, X., Shen, J. Presenilin-1 regulates neuronal differentiation during neurogenesis. Development 127: 2593-2606, 2000. [PubMed: 10821758] [Full Text: http://dev.biologists.org/cgi/pmidlookup?view=long&pmid=10821758%5D

Hartmann, D. From Alzheimer's disease to skin tumors: the catenin connection. Proc. Nat. Acad. Sci. 98: 10522-10523, 2001. [PubMed: 11553799] [Full Text: http://www.pnas.org/cgi/pmidlookup?view=long&pmid=11553799%5D

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Ishikawa, A., Piao, Y.-S., Miyashita, A., Kuwano, R., Onodera, O., Ohtake, H., Suzuki, M., Nishizawa, M., Takahashi, H. A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease. Ann. Neurol. 57: 429-434, 2005. [PubMed: 15732120] [Full Text: https://doi.org/10.1002/ana.20393%5D

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Jorgensen, P., Bus, C., Pallisgaard, N., Bryder, M., Jorgensen, A. L. Familial Alzheimer's disease co-segregates with a met146ile substitution in presenilin-1. Clin. Genet. 50: 281-286, 1996. [PubMed: 9007311] [Full Text: https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1996&volume=50&issue=5&spage=281%5D

Kaether, C., Capell, A., Edbauer, D., Winkler, E., Novak, B., Steiner, H., Haass, C. The presenilin C-terminus is required for ER-retention, nicastrin-binding and gamma-secretase activity. EMBO J. 23: 4738-4748, 2004. [PubMed: 15549135] [Full Text: http://emboj.embopress.org/cgi/pmidlookup?view=long&pmid=15549135%5D

Kamal, A., Almenar-Queralt, A., LeBlanc, J. F., Roberts, E. A., Goldstein, L. S. B. Kinesin-mediated axonal transport of a membrane compartment containing beta-secretase and presenilin-1 requires APP. Nature 414: 643-648, 2001. [PubMed: 11740561] [Full Text: https://doi.org/10.1038/414643a%5D

Kamal, A., Stokin, G. B., Yang, Z., Xia, C., Goldstein, L. S. Axonal transport of amyloid precursor protein is mediated by direct binding to the kinesin light chain subunit of kinesin-I. Neuron 28: 449-459, 2000. [PubMed: 11144355] [Full Text: https://linkinghub.elsevier.com/retrieve/pii/S0896-6273(00)00124-0%5D

Kang, D. E., Soriano, S., Xia, X., Eberhart, C. G., De Strooper, B., Zheng, H., Koo, E. H. Presenilin couples the paired phosphorylation of beta-catenin independent of Axin: implications for beta-catenin activation in tumorigenesis. Cell 110: 751-762, 2002. [PubMed: 12297048] [Full Text: https://linkinghub.elsevier.com/retrieve/pii/S0092867402009704%5D

Katayama, T., Imaizumi, K., Honda, A., Yoneda, T., Kudo, T., Takeda, M., Mori, K., Rozmahel, R., Fraser, P., St. George-Hyslop, P., Tohyama, M. Disturbed activation of endoplasmic reticulum stress transducers by familial Alzheimer's disease-linked presenilin-1 mutations. J. Biol. Chem. 276: 43446-43454, 2001. [PubMed: 11551913] [Full Text: http://www.jbc.org/cgi/pmidlookup?view=long&pmid=11551913%5D

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The rest is here:
OMIM Entry - * 104311 - PRESENILIN 1; PSEN1