Interaction between the APOE epsilon 4 allele and the APH-1b c+651T > G SNP in Alzheimer's disease (Articolo in rivista)

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  • Interaction between the APOE epsilon 4 allele and the APH-1b c+651T > G SNP in Alzheimer's disease (Articolo in rivista) (literal)
Anno
  • 2008-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1016/j.neurobiolaging.2007.03.019 (literal)
Alternative label
  • Poli, Maura; Gatta, Luisa Benerini; Lovati, Carlo; Mariani, Claudio; Galimberti, Daniela; Scarpini, Elio; Biunno, Ida; Musicco, Massimo; Dominici, Roberto; Albertini, Alberto; Finazzi, Dario (2008)
    Interaction between the APOE epsilon 4 allele and the APH-1b c+651T > G SNP in Alzheimer's disease
    in Neurobiology of aging
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Poli, Maura; Gatta, Luisa Benerini; Lovati, Carlo; Mariani, Claudio; Galimberti, Daniela; Scarpini, Elio; Biunno, Ida; Musicco, Massimo; Dominici, Roberto; Albertini, Alberto; Finazzi, Dario (literal)
Pagina inizio
  • 1494 (literal)
Pagina fine
  • 1501 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 29 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 8 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 10 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • University of Brescia; University of Milan; University of Milan; Ist Tecnol Biomed CNR; BioRep; L Sacco Hosp Vialba; Spedali Civil Brescia (literal)
Titolo
  • Interaction between the APOE epsilon 4 allele and the APH-1b c+651T > G SNP in Alzheimer's disease (literal)
Abstract
  • The gamma-secretase complex is a multimeric aspartyl protease which plays a pivotal role in the production of amyloid P-peptide, the main component of senile plaques in Alzheimer's disease (AD). APH-1a and APH-1b have been recently identified as important sub-units of the gamma-secretase complex. We previously Studied Sequence variations in both genes and their association with AD in a small Italian population. the rare polymorphism c + 651T>G in APH-1b showed a possible interaction with the Apolipoprotein E (APOE) epsilon 4 allele in the AD population sample. We extended our genetic analysis to 449 AD patients and 435 controls and, in AD cases, we found a significant interaction (P = 0.001) between the allelic variants in the two genes, resulting in a marked increase of the relative risk for AD (OR = 28.6). Despite the amino acid substitution does not seem to modify either the intracellular localization or the half-life of APH-1b protein. these data suggest that a cooperative mechanism involving APOE and APH-1b play, a role in the susceptibility to develop AD. (C) 2007 Elsevier Inc. All rights reserved. (literal)
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