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Nicastrin gene in familial and sporadic Alzheimer's disease.

Authors: Confaloni, Annamaria  Terreni, Liana  Piscopo, Paola  Crestini, Alessio  Campeggi, Lorenzo Malvezzi  Frigerio, Carlo Sala  Blotta, Ida  Perri, Maria  Di Natale, Manuela  Maletta, Raffaele  Marcon, Gabriella  Franceschi, Massimo  Bruni, Amalia C  Forloni, Gianluigi  Cantafora, Alfredo 
Citation: Confaloni A, etal., Neurosci Lett. 2003 Dec 15;353(1):61-5.
Pubmed: (View Article at PubMed) PMID:14642438

Nicastrin is a protein recently discovered associated to presenilins and involved in the production of amyloid beta peptide that accumulates in Alzheimer's disease (AD) brain. In this study the nicastrin gene was examined for unknown mutations and polymorphisms in 104 patients with familial AD (52 early-onset and 52 late-onset), 174 sporadic AD and 191 healthy neurological controls of Italian origin. The scanning of the nicastrin gene identified a missense mutation (N417Y) in two patients with sporadic AD, in an early-onset familial AD and in a young control subject. Furthermore, we found two silent mutations and four intronic polymorphisms, three of them co-segregating in a single haplotype. We found some differences in the distribution of genotype alterations in the AD population compared to the controls. However, our data together with other evidence did not support the pathological role of missense mutation N417Y.


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CRRD Object Information
CRRD ID: 13801188
Created: 2018-11-01
Species: All species
Last Modified: 2018-11-01
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.