Please use this identifier to cite or link to this item: https://hdl.handle.net/10316/20129
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dc.contributor.authorGuerreiro, Rita João-
dc.contributor.authorBaquero, Miquel-
dc.contributor.authorBlesa, Rafael-
dc.contributor.authorBoada, Mercè-
dc.contributor.authorBrás, José Miguel-
dc.contributor.authorBullido, Maria. J.-
dc.contributor.authorCalado, Ana-
dc.contributor.authorCrook, Richard-
dc.contributor.authorFerreira, Carla-
dc.contributor.authorFrank, Ana-
dc.contributor.authorGómez-Isla, Teresa-
dc.contributor.authorHernández, Isabel-
dc.contributor.authorLleó, Alberto-
dc.contributor.authorMachado, Álvaro-
dc.contributor.authorMartínez- Lage, Pablo-
dc.contributor.authorMasdeu, José-
dc.contributor.authorMolina-Porcel, Laura-
dc.contributor.authorMolinuevo, José L.-
dc.contributor.authorPastor, Pau-
dc.contributor.authorPérez-Tur, Jordi-
dc.contributor.authorRelvas, Rute-
dc.contributor.authorOliveira, Catarina Resende-
dc.contributor.authorRibeiro, Maria Helena-
dc.contributor.authorRogaeva, Ekaterina-
dc.contributor.authorSá, Alfredo-
dc.contributor.authorSamaranch, Lluís-
dc.contributor.authorSánchez-Valle, Raquel-
dc.contributor.authorSantana, Isabel-
dc.contributor.authorTàrraga, Lluís-
dc.contributor.authorValdivieso, Fernando-
dc.contributor.authorSingleton, Andrew-
dc.contributor.authorHardy, John-
dc.contributor.authorClarimón, Jordi-
dc.date.accessioned2012-06-05T09:34:49Z-
dc.date.available2012-06-05T09:34:49Z-
dc.date.issued2010-
dc.identifier.citationGUERREIRO, Rita João [et. al.] - Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. "Neurobiology of Aging". ISSN 0197-4580. 31:5 (2010) 725-731-
dc.identifier.issn0197-4580-
dc.identifier.urihttps://hdl.handle.net/10316/20129-
dc.description.abstractMutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65years) Alzheimer’s disease (AD). We performed a screening for mutations in the coding regions of presenilins, as well as exons 16 and 17 of the APP gene in a total of 231 patients from the Iberian peninsular with a clinical diagnosis of early onset AD (mean age at onset of 52.9 years; range 31– 64). We found three novel mutations in PSEN1, one novel mutation in PSEN2, and a novel mutation in the APP gene. Four previously described mutations in PSEN1 were also found. The same analysis was carried in 121 elderly healthy controls from the Iberian peninsular, and a set of 130 individuals from seven African populations belonging to the Centre d’Etude du Polymorphisme Humain-Human Genome Diversity Panel (CEPH-HGDP), in order to determine the extent of normal variability in these genes. Interestingly, in the latter series, we found five new nonsynonymous changes in all three genes and a presenilin 2 variant (R62H) that has been previously related to AD. In some of these mutations, the pathologic consequence is uncertain and needs further investigation. To address this question we propose and use a systematic algorithm to classify the putative pathology of AD mutations.por
dc.language.isoengpor
dc.publisherElsevierpor
dc.rightsopenAccesspor
dc.subjectEarly-onset Alzheimer’s diseasepor
dc.subjectPresenilinspor
dc.subjectAPPpor
dc.subjectMutationspor
dc.titleGenetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APPpor
dc.typearticlepor
degois.publication.firstPage725por
degois.publication.lastPage731por
degois.publication.issue5por
degois.publication.titleNeurobiology of Agingpor
dc.relation.publisherversionhttp://www.sciencedirect.com/science/journal/01974580por
dc.peerreviewedYespor
dc.identifier.doi10.1016/j.neurobiolaging.2008.06.012-
degois.publication.volume31por
item.openairetypearticle-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.grantfulltextopen-
item.fulltextCom Texto completo-
crisitem.author.researchunitCNC - Center for Neuroscience and Cell Biology-
crisitem.author.researchunitCNC - Center for Neuroscience and Cell Biology-
crisitem.author.orcid0000-0001-6942-4328-
crisitem.author.orcid0000-0002-8114-9434-
Appears in Collections:I&D CNC - Artigos em Revistas Internacionais
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