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Article: Mutations in the open reading frame of the β-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease
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TitleMutations in the open reading frame of the β-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease
 
AuthorsNicolaou, M7
Song, YQ8 5
Sato, CA8 5
Orlacchio, A9
Kawarai, T8 5
Medeiros, H8 5
Liang, Y8 5
Sorbi, S6
Richard, E8 5
Rogaev, EI8 5
Moliaka, Y8 5 1
Bruni, AC3
Jorge, R4
Percy, M
Duara, R2
Farrer, LA7
St GeorgeHyslop, P8 5
Rogaeva, EA8 5 1
 
Issue Date2001
 
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/10048/index.htm
 
CitationNeurogenetics, 2001, v. 3 n. 4, p. 203-206 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s100480100123
 
AbstractAmyloid β-peptide (Aβ) plays a central role in the pathogenesis of Alzheimer's disease (AD). The gene encoding the β-site APP cleaving enzyme (BACE), one of two enzymes that sequentially cleave the β-amyloid precursor protein to generate Aβ, has recently been cloned. We tested the hypothesis that BACE might be genetically associated with AD by linkage analysis (56 pedigrees), by direct nucleotide sequencing of the entire open reading frame (20 subjects with familial AD, and 10 subjects with sporadic AD) and by allelic association analysis (155 AD cases and 173 non-demented controls). Our results revealed no evidence for either genetic linkage or allelic association between BACE and AD, and no coding sequence mutations were detected in the open reading frame of the BACE gene. These data suggest that while BACE protein plays an important role in the pathogenesis of AD, and may be a robust therapeutic target, it is unlikely to be a major AD susceptibility locus. © Springer-Verlag 2001.
 
ISSN1364-6745
2013 Impact Factor: 2.658
 
DOIhttp://dx.doi.org/10.1007/s100480100123
 
ISI Accession Number IDWOS:000171833400004
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorNicolaou, M
 
dc.contributor.authorSong, YQ
 
dc.contributor.authorSato, CA
 
dc.contributor.authorOrlacchio, A
 
dc.contributor.authorKawarai, T
 
dc.contributor.authorMedeiros, H
 
dc.contributor.authorLiang, Y
 
dc.contributor.authorSorbi, S
 
dc.contributor.authorRichard, E
 
dc.contributor.authorRogaev, EI
 
dc.contributor.authorMoliaka, Y
 
dc.contributor.authorBruni, AC
 
dc.contributor.authorJorge, R
 
dc.contributor.authorPercy, M
 
dc.contributor.authorDuara, R
 
dc.contributor.authorFarrer, LA
 
dc.contributor.authorSt GeorgeHyslop, P
 
dc.contributor.authorRogaeva, EA
 
dc.date.accessioned2012-05-29T06:03:54Z
 
dc.date.available2012-05-29T06:03:54Z
 
dc.date.issued2001
 
dc.description.abstractAmyloid β-peptide (Aβ) plays a central role in the pathogenesis of Alzheimer's disease (AD). The gene encoding the β-site APP cleaving enzyme (BACE), one of two enzymes that sequentially cleave the β-amyloid precursor protein to generate Aβ, has recently been cloned. We tested the hypothesis that BACE might be genetically associated with AD by linkage analysis (56 pedigrees), by direct nucleotide sequencing of the entire open reading frame (20 subjects with familial AD, and 10 subjects with sporadic AD) and by allelic association analysis (155 AD cases and 173 non-demented controls). Our results revealed no evidence for either genetic linkage or allelic association between BACE and AD, and no coding sequence mutations were detected in the open reading frame of the BACE gene. These data suggest that while BACE protein plays an important role in the pathogenesis of AD, and may be a robust therapeutic target, it is unlikely to be a major AD susceptibility locus. © Springer-Verlag 2001.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationNeurogenetics, 2001, v. 3 n. 4, p. 203-206 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s100480100123
 
dc.identifier.doihttp://dx.doi.org/10.1007/s100480100123
 
dc.identifier.epage206
 
dc.identifier.hkuros69644
 
dc.identifier.isiWOS:000171833400004
 
dc.identifier.issn1364-6745
2013 Impact Factor: 2.658
 
dc.identifier.issue4
 
dc.identifier.pmid11714100
 
dc.identifier.scopuseid_2-s2.0-0035486922
 
dc.identifier.spage203
 
dc.identifier.urihttp://hdl.handle.net/10722/147463
 
dc.identifier.volume3
 
dc.languageeng
 
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/10048/index.htm
 
dc.publisher.placeGermany
 
dc.relation.ispartofNeurogenetics
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAged
 
dc.subject.meshAged, 80 And Over
 
dc.subject.meshAlzheimer Disease - Genetics
 
dc.subject.meshAmyloid Precursor Protein Secretases
 
dc.subject.meshAspartic Acid Endopeptidases - Genetics
 
dc.subject.meshDna Mutational Analysis
 
dc.subject.meshEndopeptidases
 
dc.subject.meshGenetic Linkage
 
dc.subject.meshGenetic Markers
 
dc.subject.meshGenotype
 
dc.subject.meshHumans
 
dc.subject.meshMiddle Aged
 
dc.subject.meshMutation
 
dc.subject.meshOpen Reading Frames - Genetics
 
dc.titleMutations in the open reading frame of the β-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease
 
dc.typeArticle
 
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Author Affiliations
  1. National Center for Mental Health
  2. Mount Sinai Medical Center Miami Beach
  3. Centro Regionale di Neurogenetica ASL 6
  4. Hospital de Clinicas Jose de San Martin
  5. University Health Network University of Toronto
  6. Università degli Studi di Firenze
  7. Boston University
  8. University of Toronto
  9. Fondazione Santa Lucia