메뉴 건너뛰기




Volumn 66, Issue 12, 2006, Pages 1955-1956

The Thr354Ile substitution in PSEN1: Disease-causing mutation or polymorphism?

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN[1-42]; PRESENILIN 1;

EID: 33745930215     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000219762.28324.a6     Document Type: Article
Times cited : (9)

References (6)
  • 1
    • 1642555780 scopus 로고    scopus 로고
    • Mutant presenilins specifically elevate the levels of the 42 residue beta-amyloid peptide in vivo: Evidence for augmentation of a 42-specific gamma secretase
    • Jankowsky JL, Fadale DJ, Anderson J, et al. Mutant presenilins specifically elevate the levels of the 42 residue beta-amyloid peptide in vivo: evidence for augmentation of a 42-specific gamma secretase. Hum Mol Genet 2004;13:159-170.
    • (2004) Hum Mol Genet , vol.13 , pp. 159-170
    • Jankowsky, J.L.1    Fadale, D.J.2    Anderson, J.3
  • 2
    • 0035964209 scopus 로고    scopus 로고
    • Screening for PS1 mutations in a referral-based series of AD cases: 21 Novel mutations
    • Rogaeva EA, Fafel KC, Song YQ, et al. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology 2001;57:621-625.
    • (2001) Neurology , vol.57 , pp. 621-625
    • Rogaeva, E.A.1    Fafel, K.C.2    Song, Y.Q.3
  • 3
    • 0034595640 scopus 로고    scopus 로고
    • The nonconserved hydrophilic loop domain of presenilin (PS) is not required for PS endoproteolysis or enhanced abeta 42 production mediated by familial early onset Alzheimer's disease-linked PS variants
    • Saura CA, Tomita T, Soriano S, et al. The nonconserved hydrophilic loop domain of presenilin (PS) is not required for PS endoproteolysis or enhanced abeta 42 production mediated by familial early onset Alzheimer's disease-linked PS variants. J Biol Chem 2000;275:17136-17142.
    • (2000) J Biol Chem , vol.275 , pp. 17136-17142
    • Saura, C.A.1    Tomita, T.2    Soriano, S.3
  • 4
    • 1542559602 scopus 로고    scopus 로고
    • The A431E presenilin 1 gene mutation associated with familial Alzheimer's disease in individuals of Mexican descent: Evidence for a founder effect
    • Murrell JR, Faber K, Alonso ME, et al. The A431E presenilin 1 gene mutation associated with familial Alzheimer's disease in individuals of Mexican descent: evidence for a founder effect. J Neuropathol Exp Neurol 2003;62:543.
    • (2003) J Neuropathol Exp Neurol , vol.62 , pp. 543
    • Murrell, J.R.1    Faber, K.2    Alonso, M.E.3
  • 5
    • 17944404642 scopus 로고    scopus 로고
    • The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease
    • Mattila KM, Forsell C, Pirttila T, et al. The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease. Ann Neurol 1998;44:965-967.
    • (1998) Ann Neurol , vol.44 , pp. 965-967
    • Mattila, K.M.1    Forsell, C.2    Pirttila, T.3
  • 6
    • 0027194791 scopus 로고
    • Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families
    • Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 1993;261:921-923.
    • (1993) Science , vol.261 , pp. 921-923
    • Corder, E.H.1    Saunders, A.M.2    Strittmatter, W.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.