메뉴 건너뛰기




Volumn 3, Issue 11, 2002, Pages

The presenilins

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; AMYLOID BETA PROTEIN; GAMMA SECRETASE; ISOPROTEIN; MEMBRANE PROTEIN; NICASTRIN; PRESENILIN 1; PRESENILIN 2; REGULATOR PROTEIN;

EID: 0036432244     PISSN: 14656906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (77)

References (71)
  • 2
    • 0029101491 scopus 로고
    • Familiar 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, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T: Familiar Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 1995, 376:775-778.
    • (1995) Nature , vol.376 , pp. 775-778
    • Rogaev, E.I.1    Sherrington, R.2    Rogaeva, E.A.3    Levesque, G.4    Ikeda, M.5    Liang, Y.6    Chi, H.7    Lin, C.8    Holman, K.9    Tsuda, T.10
  • 4
    • 0029115555 scopus 로고
    • The Alzheimer's disease collaborative group: The structure of the presenilin 1 (S182) gene and the identification of six novel mutations in early onset AD pedigrees
    • The Alzheimer's disease collaborative group: The structure of the presenilin 1 (S182) gene and the identification of six novel mutations in early onset AD pedigrees. Nat Genet 1995, 11:219-222.
    • (1995) Nat. Genet , vol.11 , pp. 219-222
  • 7
    • 0029962284 scopus 로고    scopus 로고
    • Molecular analysis of the presenilin 1 (S182) gene in "sporadic" cases of Alzheimer's disease: Identification and characterisation of unusual splice variants
    • Anwar R, Moynihan TP, Ardley H, Brindle N, Coletta PL, Cairns N, Markham AF, Robinson PA: Molecular analysis of the presenilin 1 (S182) gene in "sporadic" cases of Alzheimer's disease: identification and characterisation of unusual splice variants. J Neurochem 1996, 1774-1777.
    • (1996) J. Neurochem , pp. 1774-1777
    • Anwar, R.1    Moynihan, T.P.2    Ardley, H.3    Brindle, N.4    Coletta, P.L.5    Cairns, N.6    Markham, A.F.7    Robinson, P.A.8
  • 9
  • 10
    • 0029116848 scopus 로고
    • Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene
    • Levitan D, Greenwald I: Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene. Nature 1995, 377:351-354.
    • (1995) Nature , vol.377 , pp. 351-354
    • Levitan, D.1    Greenwald, I.2
  • 11
    • 0030889705 scopus 로고    scopus 로고
    • Isolation and characterization of Drosophila presenilin homolog
    • Hong CS, Koo EH: Isolation and characterization of Drosophila presenilin homolog. Neuroreport 1997, 8:665-668.
    • (1997) Neuroreport , vol.8 , pp. 665-668
    • Hong, C.S.1    Koo, E.H.2
  • 14
    • 0031566256 scopus 로고    scopus 로고
    • Cloning of Xenopus presenilin-alpha and -beta cDNAs and their differential expression in oogenesis and embryogenesis
    • Tsujimura A, Yasojima K, Hashimoto-Gotoh T: Cloning of Xenopus presenilin-alpha and -beta cDNAs and their differential expression in oogenesis and embryogenesis. Biochem Biophys Res Commun 1997, 231:392-396.
    • (1997) Biochem. Biophys. Res. Commun , vol.231 , pp. 392-396
    • Tsujimura, A.1    Yasojima, K.2    Hashimoto-Gotoh, T.3
  • 15
    • 0032413543 scopus 로고    scopus 로고
    • Cloning of the presenilin 2 cDNA and its distribution in brain of the primate, Microcebus murinus: Coexpression with betaAPP and Tau proteins
    • Calenda A, Mestre-Frances N, Czech C, Pradier L, Petter L, Petter A, Perret M, Bons N, Bellis M: Cloning of the presenilin 2 cDNA and its distribution in brain of the primate, Microcebus murinus: coexpression with betaAPP and Tau proteins. Neurobiol Dis 1998, 5:323-333.
    • (1998) Neurobiol. Dis , vol.5 , pp. 323-333
    • Calenda, A.1    Mestre-Frances, N.2    Czech, C.3    Pradier, L.4    Petter, L.5    Petter, A.6    Perret, M.7    Bons, N.8    Bellis, M.9
  • 16
    • 0035965798 scopus 로고    scopus 로고
    • Characterization of the amphioxus presenilin gene in a high gene-density genomic region illustrates duplication during the vertebrate lineage
    • Martinez-Mir A, Canestro C, Gonzalez-Duarte R, Albalat R: Characterization of the amphioxus presenilin gene in a high gene-density genomic region illustrates duplication during the vertebrate lineage. Gene 2001, 279:157-164.
    • (2001) Gene , vol.279 , pp. 157-164
    • Martinez-Mir, A.1    Canestro, C.2    Gonzalez-Duarte, R.3    Albalat, R.4
  • 18
    • 0031108103 scopus 로고    scopus 로고
    • Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing
    • Baumeister R, Leimer U, Zweckbronner I, Jakubek C, Grunberg J, Haass C: Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing. Genes Funct 1997, 1:149-159.
    • (1997) Genes Funct , vol.1 , pp. 149-159
    • Baumeister, R.1    Leimer, U.2    Zweckbronner, I.3    Jakubek, C.4    Grunberg, J.5    Haass, C.6
  • 20
    • 0036628917 scopus 로고    scopus 로고
    • Novel class of polytopic proteins with domains associated with putative protease activity
    • Grigorenko AP, Moliaka Yk, Korovaitseva GI, Rogaev EI: Novel class of polytopic proteins with domains associated with putative protease activity. Biochemistry (Mosc) 2002, 67:826-835.
    • (2002) Biochemistry (Mosc) , vol.67 , pp. 826-835
    • Grigorenko, A.P.1    Moliaka, Y.K.2    Korovaitseva, G.I.3    Rogaev, E.I.4
  • 21
    • 0030761094 scopus 로고    scopus 로고
    • The presenilins and Alzheimer's disease
    • Hutton M, Hardy J: The presenilins and Alzheimer's disease. Hum Mol Genet 1997, 6:1639-1646.
    • (1997) Hum. Mol. Genet , vol.6 , pp. 1639-1646
    • Hutton, M.1    Hardy, J.2
  • 22
    • 0033864011 scopus 로고    scopus 로고
    • Molecular genetics of Alzheimer's disease: The role of beta-amyloid and the presenilins
    • Tandon A, Rogaeva EA, Mullan M, St George-Hyslop P: Molecular genetics of Alzheimer's disease: the role of beta-amyloid and the presenilins. Curr Opin Neurol 2000, 13:377-384.
    • (2000) Curr. Opin. Neurol , vol.13 , pp. 377-384
    • Tandon, A.1    Rogaeva, E.A.2    Mullan, M.3    St George-Hyslop, P.4
  • 23
    • 0036364359 scopus 로고    scopus 로고
    • The solved and unsolved mysteries of the genetics of early-onset Alzheimer's disease
    • Rogaeva E: The solved and unsolved mysteries of the genetics of early-onset Alzheimer's disease. Neuromolecular Med 2002, 2:1-10.
    • (2002) Neuromolecular Med , vol.2 , pp. 1-10
    • Rogaeva, E.1
  • 25
    • 0032488995 scopus 로고    scopus 로고
    • The proteolytic fragments of the Alzheimer's disease-associated presenilin-1 form hetorodimers and occur as a 100-150-kDa molecular mass complex
    • Capell A, Grunberg J, Pesold B, Diehlmann A, Citron M, Nixon R, Beyreuther K, Selkoe DJ, Haass C: The proteolytic fragments of the Alzheimer's disease-associated presenilin-1 form hetorodimers and occur as a 100-150-kDa molecular mass complex. J Biol Chem 1998, 273:3205-3211.
    • (1998) J. Biol. Chem , vol.273 , pp. 3205-3211
    • Capell, A.1    Grunberg, J.2    Pesold, B.3    Diehlmann, A.4    Citron, M.5    Nixon, R.6    Beyreuther, K.7    Selkoe, D.J.8    Haass, C.9
  • 26
    • 0030868903 scopus 로고    scopus 로고
    • Alternative cleavage of Alzheimer-associated presenilins during apoptosis by a caspase-3 family protease
    • Kim TW, Pettingel WH, Jung YK, Kovacs DM, Tanzi RE: Alternative cleavage of Alzheimer-associated presenilins during apoptosis by a caspase-3 family protease. Science 1997, 277:373-376.
    • (1997) Science , vol.277 , pp. 373-376
    • Kim, T.W.1    Pettingel, W.H.2    Jung, Y.K.3    Kovacs, D.M.4    Tanzi, R.E.5
  • 27
    • 0031569390 scopus 로고    scopus 로고
    • Analysis of the 5′ sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSENI) associated with early onset Alzheimer disease
    • Rogaev EI, Sherrington R, Wu C, Levesque G, Liang Y, Rogaeva EA, Ikeda M, Holman K, Lin C, Lukiw WJ, et al.: Analysis of the 5′ sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSENI) associated with early onset Alzheimer disease. Genomics 1997, 40:415-424.
    • (1997) Genomics , vol.40 , pp. 415-424
    • Rogaev, E.I.1    Sherrington, R.2    Wu, C.3    Levesque, G.4    Liang, Y.5    Rogaeva, E.A.6    Ikeda, M.7    Holman, K.8    Lin, C.9    Lukiw, W.J.10
  • 30
    • 0034669031 scopus 로고    scopus 로고
    • A common enzyme connects notch signaling and Alzheimer's disease
    • Kopan R, Goate A: A common enzyme connects notch signaling and Alzheimer's disease. Genes Dev 2000, 14:2799-2806.
    • (2000) Genes Dev , vol.14 , pp. 2799-2806
    • Kopan, R.1    Goate, A.2
  • 31
    • 16044373524 scopus 로고    scopus 로고
    • Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease
    • Scheuner D, Eckman C, Jensen M, Song X, Citron M, Suzuki N, Bird TD, Hardy J, Hutton M, Kukull W, et al.: Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nat Med 1996, 2:864-870.
    • (1996) Nat. Med , vol.2 , pp. 864-870
    • Scheuner, D.1    Eckman, C.2    Jensen, M.3    Song, X.4    Citron, M.5    Suzuki, N.6    Bird, T.D.7    Hardy, J.8    Hutton, M.9    Kukull, W.10
  • 33
    • 0030293676 scopus 로고    scopus 로고
    • Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo
    • Borchelt DR, Thinakaran G, Eckman CB, et al.: Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo. Neuron 1996, 17:1005-1013.
    • (1996) Neuron , vol.17 , pp. 1005-1013
    • Borchelt, D.R.1    Thinakaran, G.2    Eckman, C.B.3
  • 35
    • 16944362157 scopus 로고    scopus 로고
    • Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice
    • Citron M, Westaway D, Xia W, Carlson G, Diehl T, Levesque G, Johnson-Wood K, Lee M, Seubert P, Davis A, et al.: Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice. Nat Med 1997, 3:67-72.
    • (1997) Nat. Med , vol.3 , pp. 67-72
    • Citron, M.1    Westaway, D.2    Xia, W.3    Carlson, G.4    Diehl, T.5    Levesque, G.6    Johnson-Wood, K.7    Lee, M.8    Seubert, P.9    Davis, A.10
  • 37
    • 0033535553 scopus 로고    scopus 로고
    • Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity
    • Wolfe MS, Xia W, Ostaszewski BL, Diehl TS, Kimberly WT, Selkoe DJ: Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity. Nature 1999, 398:513-517.
    • (1999) Nature , vol.398 , pp. 513-517
    • Wolfe, M.S.1    Xia, W.2    Ostaszewski, B.L.3    Diehl, T.S.4    Kimberly, W.T.5    Selkoe, D.J.6
  • 41
    • 0034282749 scopus 로고    scopus 로고
    • Mutation of conserved aspartates affects maturation of both aspartate mutant and endogenous presenilin 1 and presenilin 2 complexes
    • Yu G, Chen F, Nishimura M, Steiner H, Tandon A, Kawarai T, Arawaka S, Supala A, Song YQ, Rogaeva E, et al.: Mutation of conserved aspartates affects maturation of both aspartate mutant and endogenous presenilin 1 and presenilin 2 complexes. J Biol Chem 2000, 275:27348-27353.
    • (2000) J. Biol. Chem , vol.275 , pp. 27348-27353
    • Yu, G.1    Chen, F.2    Nishimura, M.3    Steiner, H.4    Tandon, A.5    Kawarai, T.6    Arawaka, S.7    Supala, A.8    Song, Y.Q.9    Rogaeva, E.10
  • 44
    • 0034727409 scopus 로고    scopus 로고
    • Mutation of the conserved N-terminal cysteine (Cys92) of human presenilin 1 causes increased Abeta42 secretion in mammalian cells by impaired Notch/Lin 12 signalling in C. elegans embryos
    • Zhang DM, Levitan D, Yu G, Nishimura M, Chen F, Tandon A, Kawarai T, Arawaka S, Milman P, Holmes E, et al.: Mutation of the conserved N-terminal cysteine (Cys92) of human presenilin 1 causes increased Abeta42 secretion in mammalian cells by impaired Notch/Lin 12 signalling in C. elegans embryos. Neuroreport 2000, 11:3227-3230.
    • (2000) Neuroreport , vol.11 , pp. 3227-3230
    • Zhang, D.M.1    Levitan, D.2    Yu, G.3    Nishimura, M.4    Chen, F.5    Tandon, A.6    Kawarai, T.7    Arawaka, S.8    Milman, P.9    Holmes, E.10
  • 45
    • 0034731432 scopus 로고    scopus 로고
    • A loss of function mutant of the presenilin homologue sel-12 undergoes aberrant endoproteolysis in Caenorhabditis elegans and increased A-beta-42 generation in human cells
    • Okochi M, Eimer S, Bottcher A, Baumeister R, Romig H, Walter J, Capell A, Steiner H, Haass C: A loss of function mutant of the presenilin homologue sel-12 undergoes aberrant endoproteolysis in Caenorhabditis elegans and increased A-beta-42 generation in human cells. J Biol Chem 2000, 275:40925-40932.
    • (2000) J. Biol. Chem , vol.275 , pp. 40925-40932
    • Okochi, M.1    Eimer, S.2    Bottcher, A.3    Baumeister, R.4    Romig, H.5    Walter, J.6    Capell, A.7    Steiner, H.8    Haass, C.9
  • 46
    • 0035005101 scopus 로고    scopus 로고
    • New protease inhibitors prevent gamma-secretase-mediated production of Abeta40/42 without affecting Notch cleavage
    • Petit A, Bihel F, Alves da Costa C, Pourquie O, Checler F, Kraus JL: New protease inhibitors prevent gamma-secretase-mediated production of Abeta40/42 without affecting Notch cleavage. Nat Cell Biol 2001, 3:507-511.
    • (2001) Nat. Cell Biol , vol.3 , pp. 507-511
    • Petit, A.1    Bihel, F.2    Alves da Costa, C.3    Pourquie, O.4    Checler, F.5    Kraus, J.L.6
  • 47
    • 0035955693 scopus 로고    scopus 로고
    • The intracellular domain of the beta-amyloid precursor protein is stabilized by Fe65 and translocates to the nucleus in a Notch-like manner
    • Kimberly WT, Zheng JB, Guenette S, Selkoe DJ: The intracellular domain of the beta-amyloid precursor protein is stabilized by Fe65 and translocates to the nucleus in a Notch-like manner. J Biol Chem 2001, 276:40288-40292.
    • (2001) J. Biol. Chem , vol.276 , pp. 40288-40292
    • Kimberly, W.T.1    Zheng, J.B.2    Guenette, S.3    Selkoe, D.J.4
  • 50
    • 0033636136 scopus 로고    scopus 로고
    • Axonal transport of amyloid precursor protein is mediated by direct binding to the kinesin light chain subunit of kinesin-1
    • Kamal A, Stokin GB, Yang Z, Xia CH, Goldstein LS: Axonal transport of amyloid precursor protein is mediated by direct binding to the kinesin light chain subunit of kinesin-1. Neuron 2000, 28:449-459.
    • (2000) Neuron , vol.28 , pp. 449-459
    • Kamal, A.1    Stokin, G.B.2    Yang, Z.3    Xia, C.H.4    Goldstein, L.S.5
  • 51
    • 0035818998 scopus 로고    scopus 로고
    • Kinesin-mediated axonal transport of a membrane compartment containing beta-secretase and presenilin-I requires APP
    • Kamal A, Almenar-Queralt A, LeBlanc JF, Roberts EA, Goldstein LS: Kinesin-mediated axonal transport of a membrane compartment containing beta-secretase and presenilin-I requires APP. Nature 2001, 414-643-648.
    • (2001) Nature , vol.414 , pp. 643-648
    • Kamal, A.1    Almenar-Queralt, A.2    LeBlanc, J.F.3    Roberts, E.A.4    Goldstein, L.S.5
  • 52
    • 0033529031 scopus 로고    scopus 로고
    • Neuronal overexpression of APPL, the Drosophila homologue of the amyloid precursor protein (APP), disrupts axonal transport
    • Torroja L, Chu H, Kotovsky I, White K: Neuronal overexpression of APPL, the Drosophila homologue of the amyloid precursor protein (APP), disrupts axonal transport. Curr Biol 1999, 9:489-492.
    • (1999) Curr. Biol , vol.9 , pp. 489-492
    • Torroja, L.1    Chu, H.2    Kotovsky, I.3    White, K.4
  • 53
    • 0035829720 scopus 로고    scopus 로고
    • Disruption of axonal transport and neuronal viability by amyloid precursor protein mutations in Drosophila
    • Gunawardena S, Goldstein LS: Disruption of axonal transport and neuronal viability by amyloid precursor protein mutations in Drosophila. Neuron 2001, 32:389-401.
    • (2001) Neuron , vol.32 , pp. 389-401
    • Gunawardena, S.1    Goldstein, L.S.2
  • 61
    • 0036007117 scopus 로고    scopus 로고
    • Nicastrin is required for gamma-secretase cleavage of the Drosophila Notch receptor
    • Hu Y, Ye Y, Fortini ME: Nicastrin is required for gamma-secretase cleavage of the Drosophila Notch receptor. Dev Cell 2002, 2:69-78.
    • (2002) Dev. Cell , vol.2 , pp. 69-78
    • Hu, Y.1    Ye, Y.2    Fortini, M.E.3
  • 62
    • 0035894534 scopus 로고    scopus 로고
    • APH-2/nicastrin functions in LIN-12/Notch signaling in the Caenorhabditis elegans somatic gonad
    • Levitan D, Yu G, St George HP, Goutte C: APH-2/nicastrin functions in LIN-12/Notch signaling in the Caenorhabditis elegans somatic gonad. Dev Biol 2001, 240:654-661.
    • (2001) Dev. Biol , vol.240 , pp. 654-661
    • Levitan, D.1    Yu, G.2    St George, H.P.3    Goutte, C.4
  • 63
    • 0035204206 scopus 로고    scopus 로고
    • Nicastrin is required for Presenilin-mediated transmembrane cleavage in Drosophila
    • Chung HM, Struhl G: Nicastrin is required for Presenilin-mediated transmembrane cleavage in Drosophila. Nat Cell Biol 2001, 3:1129-1132.
    • (2001) Nat. Cell Biol , vol.3 , pp. 1129-1132
    • Chung, H.M.1    Struhl, G.2
  • 64
    • 0036007118 scopus 로고    scopus 로고
    • Drosophila nicastrin is essential for the intramembranous cleavage of notch
    • Lopez-Schier H, St Johnston D: Drosophila nicastrin is essential for the intramembranous cleavage of notch. Dev Cell 2002, 2:79-89.
    • (2002) Dev. Cell , vol.2 , pp. 79-89
    • Lopez-Schier, H.1    St Johnston, D.2
  • 67
    • 0037173115 scopus 로고    scopus 로고
    • Presenilin and nicastrin regulate each other and determine amyloid betapeptide production via complex formation
    • Edbauer D, Winkler E, Haass C, Steiner H: Presenilin and nicastrin regulate each other and determine amyloid betapeptide production via complex formation. Proc Natl Acad Sci USA 2002, 99:8666-8671.
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 8666-8671
    • Edbauer, D.1    Winkler, E.2    Haass, C.3    Steiner, H.4
  • 68
    • 0037154158 scopus 로고    scopus 로고
    • APH-I is a multipass membrane protein essential for the Notch signalling Pathway in Caenorhabditis elegans embryos
    • Goutte C, Tsunazoki M, Hale VA, Priess JR: APH-I is a multipass membrane protein essential for the Notch signalling Pathway in Caenorhabditis elegans embryos. Proc Natl Acad Sci USA 2002, 99:775-779.
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 775-779
    • Goutte, C.1    Tsunazoki, M.2    Hale, V.A.3    Priess, J.R.4
  • 69
    • 18444417998 scopus 로고    scopus 로고
    • aph-1 and pen-2 are required for Notch pathway signalling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation
    • Francis R, McGrath G, Zhang J, Ruddy DA, Sym M, Apfeld J, Nicoll M, Maxwell M, Hai B, Ellis MC, et al: aph-1 and pen-2 are required for Notch pathway signalling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation. Dev Cell 2002, 3:85-97.
    • (2002) Dev. Cell , vol.3 , pp. 85-97
    • Francis, R.1    McGrath, G.2    Zhang, J.3    Ruddy, D.A.4    Sym, M.5    Apfeld, J.6    Nicoll, M.7    Maxwell, M.8    Hai, B.9    Ellis, M.C.10
  • 71
    • 0011451948 scopus 로고    scopus 로고
    • Alzheimer research forum: Presenilin mutations directory
    • Alzheimer research forum: presenilin mutations directory [http://www.alzforum.org/res/com/mut/pre/default.asp]


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.