메뉴 건너뛰기




Volumn 11, Issue 3, 1998, Pages 183-190

Presenilin mutations in Alzheimer's disease

Author keywords

Alzheimer's disease; Mutation analysis; Presenilin 1 and 2

Indexed keywords

PRESENILIN 1; PRESENILIN 2;

EID: 0031938304     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J     Document Type: Article
Times cited : (178)

References (64)
  • 2
    • 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 (1997) Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing. Genes and Function 1:149-159.
    • (1997) Genes and Function , vol.1 , pp. 149-159
    • Baumeister, R.1    Leimer, U.2    Zweckbronner, I.3    Jakubek, C.4    Grunberg, J.5    Haass, C.6
  • 13
    • 0029813255 scopus 로고    scopus 로고
    • The presenilin genes: A new gene family involved in Alzheimer disease pathology
    • Cruts M, Hendriks L, Van Broeckhoven C (1996) The presenilin genes: A new gene family involved in Alzheimer disease pathology. Hum Molec Genet 5:1449-1455.
    • (1996) Hum Molec Genet , vol.5 , pp. 1449-1455
    • Cruts, M.1    Hendriks, L.2    Van Broeckhoven, C.3
  • 20
    • 0031052381 scopus 로고    scopus 로고
    • Amyloid, the presenilins and Alzheimer disease
    • Hardy J ( 1997) Amyloid, the presenilins and Alzheimer disease. TINS 20:154-159.
    • (1997) TINS , vol.20 , pp. 154-159
    • Hardy, J.1
  • 22
    • 0030889705 scopus 로고    scopus 로고
    • Isolation and characterisation of Drosophila presenilin homologue
    • Hong C-S, Koo EH (1997) Isolation and characterisation of Drosophila presenilin homologue. Neuroreport 8:665-668.
    • (1997) Neuroreport , vol.8 , pp. 665-668
    • Hong, C.-S.1    Koo, E.H.2
  • 24
    • 0030474298 scopus 로고    scopus 로고
    • Familial Alzheimer's disease co-segregates with a Met146Ile substitution in presenilin-1
    • Abstract
    • Jorgensen P, Bus C, Pallisgaard N, Bryder M, Jorgensen AL (1996) Familial Alzheimer's disease co-segregates with a Met146Ile substitution in presenilin-1. Clin Genet 50:281-286 (Abstract).
    • (1996) Clin Genet , vol.50 , pp. 281-286
    • Jorgensen, P.1    Bus, C.2    Pallisgaard, N.3    Bryder, M.4    Jorgensen, A.L.5
  • 26
    • 0030890399 scopus 로고    scopus 로고
    • Endoproteolytic cleavage and proteasomal degradation of presenilin 2 in transfected cells
    • Kim T-W, Pettingell WH, Hallmark OG, Moir RD, Wasco W, Tanzi RE (1997a) Endoproteolytic cleavage and proteasomal degradation of presenilin 2 in transfected cells. J Biol Chem 272:11006-11010.
    • (1997) J Biol Chem , vol.272 , pp. 11006-11010
    • Kim, T.-W.1    Pettingell, W.H.2    Hallmark, O.G.3    Moir, R.D.4    Wasco, W.5    Tanzi, R.E.6
  • 27
    • 0030868903 scopus 로고    scopus 로고
    • Alternative Cleavage of Alzheimer-associated presenilins during apoptosis by a caspase-3 family protease
    • Kim T-W, Warren H, Pettingell H, Jung Y-K, Kovacs DM, Tanzi E (1997b) Alternative Cleavage of Alzheimer-associated presenilins during apoptosis by a caspase-3 family protease. Science 277:373-376.
    • (1997) Science , vol.277 , pp. 373-376
    • Kim, T.-W.1    Warren, H.2    Pettingell, H.3    Jung, Y.-K.4    Kovacs, D.M.5    Tanzi, E.6
  • 30
    • 0030922146 scopus 로고    scopus 로고
    • Evidence for a six-transmembrane domain structure of presenilin 1
    • Lehmanns, Chiesar, Harris DA (1997) Evidence for a six-transmembrane domain structure of presenilin 1 J Biol Chem 272:12047-12051.
    • (1997) J Biol Chem , vol.272 , pp. 12047-12051
    • Lehmanns1    Chiesar2    Harris, D.A.3
  • 34
    • 0030293894 scopus 로고    scopus 로고
    • Membrane topology of the C. elegans SEL-12 presenilin
    • Li X, Greenwald I (1996) Membrane topology of the C. elegans SEL-12 presenilin Neuron 17 1015-1021.
    • (1996) Neuron , vol.17 , pp. 1015-1021
    • Li, X.1    Greenwald, I.2
  • 36
    • 0030575338 scopus 로고    scopus 로고
    • Characterization of human presenilin 1 using N-terminal specific monoclonal antibodies: Evidence that Alzheimer mutations affect proteolytic processing
    • Mercken M, Takahashi H, Honda T, Sato K, Murayama M, Nakazato Y, Noguchi K, Imahori K, Takashima A (1996) Characterization of human presenilin 1 using N-terminal specific monoclonal antibodies: Evidence that Alzheimer mutations affect proteolytic processing. Febs Letters 389:297-303.
    • (1996) Febs Letters , vol.389 , pp. 297-303
    • Mercken, M.1    Takahashi, H.2    Honda, T.3    Sato, K.4    Murayama, M.5    Nakazato, Y.6    Noguchi, K.7    Imahori, K.8    Takashima, A.9
  • 44
    • 0029899593 scopus 로고    scopus 로고
    • Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation
    • Rossor MN, Fox NC, Beck J, Campbell TC, Collinge J (1996) Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation. Lancet 347:1560.
    • (1996) Lancet , vol.347 , pp. 1560
    • Rossor, M.N.1    Fox, N.C.2    Beck, J.3    Campbell, T.C.4    Collinge, J.5
  • 54
    • 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, Hashomoto-Gotoh T (1997) Cloning of Xenopus presenilin-alpha and -beta cDNAs and their differential expression in oogenesis and embryogenesis. Biochem Biophys Res Commun 231:392-396.
    • (1997) Biochem Biophys Res Commun , vol.231 , pp. 392-396
    • Tsujimura, A.1    Yasojima, K.2    Hashomoto-Gotoh, T.3
  • 55
    • 0028883252 scopus 로고
    • Molecular Genetics of Alzheimer disease. Identification of genes and gene mutations
    • Van Broeckhoven C (1995a) Molecular Genetics of Alzheimer disease. Identification of genes and gene mutations. Eur Neurol 35:8-19.
    • (1995) Eur Neurol , vol.35 , pp. 8-19
    • Van Broeckhoven, C.1
  • 56
    • 0029411573 scopus 로고
    • Presenilins and Alzheimer disease
    • Van Broeckhoven C (1995b) Presenilins and Alzheimer disease. Nature Genet 11:230-232.
    • (1995) Nature Genet , vol.11 , pp. 230-232
    • Van Broeckhoven, C.1
  • 62
    • 0031054505 scopus 로고    scopus 로고
    • Formation of stable complexes between two Alzheimer's disease gene products: Presenilin-2 and β-amyloid precursor protein
    • Weideman A, Paliga K, Durrwang U, Czech C, Evin G, Masters CL, Beyreuther K (1997) Formation of stable complexes between two Alzheimer's disease gene products: Presenilin-2 and β-amyloid precursor protein. Nature Med 3:328-332.
    • (1997) Nature Med , vol.3 , pp. 328-332
    • Weideman, A.1    Paliga, K.2    Durrwang, U.3    Czech, C.4    Evin, G.5    Masters, C.L.6    Beyreuther, K.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.