메뉴 건너뛰기




Volumn 42, Issue 1, 1997, Pages 124-128

Early-onset alzheimer's disease with a presenilin-1 mutation at the site corresponding to the volga German presenilin-2 mutation

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALPHA HELIX; ALZHEIMER DISEASE; ARTICLE; CASE REPORT; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MOLECULAR MODEL; PHENOTYPE; PRIORITY JOURNAL;

EID: 0030848149     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410420121     Document Type: Article
Times cited : (33)

References (25)
  • 1
    • 0026088977 scopus 로고
    • Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
    • Goate AM, Chartier-Harlin MC, Mullan MC, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991;349:704-706
    • (1991) Nature , vol.349 , pp. 704-706
    • Goate, A.M.1    Chartier-Harlin, M.C.2    Mullan, M.C.3
  • 2
    • 0029004341 scopus 로고
    • Cloning of a gene bearing missense mutations in early onset familial Alzheimer's disease
    • Sherrington R, Rogaev E, Liang Y, et al. Cloning of a gene bearing missense mutations in early onset familial Alzheimer's disease. Nature 1995;375:754-760
    • (1995) Nature , vol.375 , pp. 754-760
    • Sherrington, R.1    Rogaev, E.2    Liang, Y.3
  • 3
    • 0029087026 scopus 로고
    • Candidate gene for the chromosome 1 familial Alzheimer's disease gene
    • Levy-Lahad E, Wasco W, Poorkaj P, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease gene. Science 1995;269:973-977
    • (1995) Science , vol.269 , pp. 973-977
    • Levy-Lahad, E.1    Wasco, W.2    Poorkaj, P.3
  • 4
    • 0029101491 scopus 로고    scopus 로고
    • Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
    • Rogaev EJ, Sherrington R, Rogaeva EA. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 1996;376:775-778
    • (1996) Nature , vol.376 , pp. 775-778
    • Rogaev, E.J.1    Sherrington, R.2    Rogaeva, E.A.3
  • 5
    • 0028883252 scopus 로고
    • Molecular genetics of Alzheimer's disease: Identification of genes and gene mutations
    • Van Broeckhoven C. Molecular genetics of Alzheimer's disease: identification of genes and gene mutations. Eur Neurol 1995; 35:8-19
    • (1995) Eur Neurol , vol.35 , pp. 8-19
    • Van Broeckhoven, C.1
  • 6
    • 0029115555 scopus 로고
    • The structure of the presenilin 1 (S 182) gene and identification of six novel mutations in early onset Alzheimer's disease families
    • Clark RF, Hutton M, Fuldner RA, et al. The structure of the presenilin 1 (S 182) gene and identification of six novel mutations in early onset Alzheimer's disease families. Nature Genet 1995;11:219-222
    • (1995) Nature Genet , vol.11 , pp. 219-222
    • Clark, R.F.1    Hutton, M.2    Fuldner, R.A.3
  • 7
    • 9344237637 scopus 로고    scopus 로고
    • Complete analysis of the presenilin 1 gene in families with early onset Alzheimer's disease
    • Hutton M, Busfield F, Wragg M, et al. Complete analysis of the presenilin 1 gene in families with early onset Alzheimer's disease. Neuroreport 1996;7:801-805
    • (1996) Neuroreport , vol.7 , pp. 801-805
    • Hutton, M.1    Busfield, F.2    Wragg, M.3
  • 8
    • 0026688633 scopus 로고
    • Mutation of a putative sperm membrane protein in C. elegans prevents sperm differentiation but not its associated meiotic divisions
    • L'Hernault SW, Arduengo PM. Mutation of a putative sperm membrane protein in C. elegans prevents sperm differentiation but not its associated meiotic divisions. J Cell Biol 1992;119: 55-68
    • (1992) J Cell Biol , vol.119 , pp. 55-68
    • L'Hernault, S.W.1    Arduengo, P.M.2
  • 9
    • 0029116848 scopus 로고
    • Facilitation of lin-12 mediated signaling by sel-12, a C. elegans S182 Alzheimer's disease gene
    • Levitan D, Greenwald I. Facilitation of lin-12 mediated signaling by sel-12, a C. elegans S182 Alzheimer's disease gene. Nature 1995;377:351-354
    • (1995) Nature , vol.377 , pp. 351-354
    • Levitan, D.1    Greenwald, I.2
  • 10
    • 16044373524 scopus 로고    scopus 로고
    • The amyloid β protein deposited in the senile plaques in 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, et al. The amyloid β protein deposited in the senile plaques in Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nature Med 1996;2:864-870
    • (1996) Nature Med , vol.2 , pp. 864-870
    • Scheuner, D.1    Eckman, C.2    Jensen, M.3
  • 11
    • 16044366039 scopus 로고    scopus 로고
    • Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1
    • Duff K, Eckman C, Zehr C, et al. Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1. Nature 1996; 383:710-713
    • (1996) Nature , vol.383 , pp. 710-713
    • Duff, K.1    Eckman, C.2    Zehr, C.3
  • 12
    • 0029554875 scopus 로고    scopus 로고
    • A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin 1 gene
    • Perez-Tur J, Froelich S, Prihar G, et al. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin 1 gene. Neuroreport 1996;7:297-301
    • (1996) Neuroreport , vol.7 , pp. 297-301
    • Perez-Tur, J.1    Froelich, S.2    Prihar, G.3
  • 13
    • 0029813255 scopus 로고    scopus 로고
    • The presenilin genes: A new gene family involved in Alzheimer's disease pathology
    • Cruts M, Hendriks L, Van Broeckhoven C. The presenilin genes: a new gene family involved in Alzheimer's disease pathology. Hum Mol Genet 1996;5:1449-1455
    • (1996) Hum Mol Genet , vol.5 , pp. 1449-1455
    • Cruts, M.1    Hendriks, L.2    Van Broeckhoven, C.3
  • 14
    • 0030250147 scopus 로고    scopus 로고
    • A further presenilin 1 mutation in exon 8 in familial Alzheimer's disease
    • Perez-Tur J, Croxton R, Wright C, et al. A further presenilin 1 mutation in exon 8 in familial Alzheimer's disease. Neurodegeneration 1996;5:207-212
    • (1996) Neurodegeneration , vol.5 , pp. 207-212
    • Perez-Tur, J.1    Croxton, R.2    Wright, C.3
  • 15
    • 15844425969 scopus 로고    scopus 로고
    • Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo
    • Thinakaran G, Borchelt DR, Lee MK, et al. Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo. Neuron 1996;17:181-190
    • (1996) Neuron , vol.17 , pp. 181-190
    • Thinakaran, G.1    Borchelt, D.R.2    Lee, M.K.3
  • 16
    • 0002638493 scopus 로고
    • Mental status examination for organic mental syndrome in the elderly patient
    • Bellak L, Karasu TB, eds. New York: Grune and Stratton
    • Mattis S. Mental status examination for organic mental syndrome in the elderly patient. In: Bellak L, Karasu TB, eds. Geriatric psychiatry: a handbook for psychiatrists and primary care physicians. New York: Grune and Stratton, 1976:77-121
    • (1976) Geriatric Psychiatry: A Handbook for Psychiatrists and Primary Care Physicians , pp. 77-121
    • Mattis, S.1
  • 17
    • 0016823810 scopus 로고
    • Mini-mental state: A practical method for grading the cognitive state of patients for the clinician
    • Folstcin MF, Folstein SE, McHugh PR. Mini-mental state: a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189-198
    • (1975) J Psychiatr Res , vol.12 , pp. 189-198
    • Folstcin, M.F.1    Folstein, S.E.2    McHugh, P.R.3
  • 19
    • 1842341996 scopus 로고    scopus 로고
    • Rost B. http://www.embl-heidelberg.de/predictprotein/phd_pred. html
    • Rost, B.1
  • 21
    • 0027050182 scopus 로고
    • Sequence specificity in the dimerization of transmembrane α-helices
    • Lemmon MA, Flanagan JM, Treutlein HR, et al. Sequence specificity in the dimerization of transmembrane α-helices. Biochemistry 1992;31:12719-12725
    • (1992) Biochemistry , vol.31 , pp. 12719-12725
    • Lemmon, M.A.1    Flanagan, J.M.2    Treutlein, H.R.3
  • 22
    • 0024290472 scopus 로고
    • Amino acid preferences for specific locations at the end of a α helices
    • Richardson JS, Richardson DC. Amino acid preferences for specific locations at the end of a α helices. Science 1988;240: 1648-1652
    • (1988) Science , vol.240 , pp. 1648-1652
    • Richardson, J.S.1    Richardson, D.C.2
  • 23
    • 0027499143 scopus 로고
    • Non-random distribution of amino acids in the trans-membrane segments of human type I single span membrane proteins
    • Landolt-Marticorena C, Williams K, Deber CM, Reithmeier RAF. Non-random distribution of amino acids in the trans-membrane segments of human type I single span membrane proteins. J Mol Biol 1993;229:602-608
    • (1993) J Mol Biol , vol.229 , pp. 602-608
    • Landolt-Marticorena, C.1    Williams, K.2    Deber, C.M.3    Reithmeier, R.A.F.4
  • 24
    • 0030020734 scopus 로고    scopus 로고
    • Topology prediction of membrane proteins
    • Persson B, Argos P. Topology prediction of membrane proteins. Protein Sci 1996;5:363-371
    • (1996) Protein Sci , vol.5 , pp. 363-371
    • Persson, B.1    Argos, P.2
  • 25
    • 0028153788 scopus 로고
    • A mutation data matrix for transmembrane proteins
    • Jones DT, Taylor WR, Thornton JM. A mutation data matrix for transmembrane proteins. FEBS Lett 1994;339:269-275
    • (1994) FEBS Lett , vol.339 , pp. 269-275
    • Jones, D.T.1    Taylor, W.R.2    Thornton, J.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.