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, YQ5 8
Sato, CA5 8
Orlacchio, A9
Kawarai, T5 8
Medeiros, H5 8
Liang, Y5 8
Sorbi, S6
Richard, E5 8
Rogaev, EI5 8
Moliaka, Y1 5 8
Bruni, AC3
Jorge, R2
Percy, M
Duara, R4
Farrer, LA7
St GeorgeHyslop, P5 8
Rogaeva, EA1 5 8
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
2011 Impact Factor: 3.354
2011 SCImago Journal Rankings: 0.394
DOIhttp://dx.doi.org/10.1007/s100480100123
ISI Accession Number IDWOS:000171833400004
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 3.354
2011 SCImago Journal Rankings: 0.394
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
Author Affiliations
  1. National Center for Mental Health
  2. Hospital de Clinicas Jose de San Martin
  3. Centro Regionale di Neurogenetica ASL 6
  4. Mount Sinai Medical Center Miami Beach
  5. University Health Network
  6. Università degli Studi di Firenze
  7. Boston University
  8. University of Toronto
  9. Fondazione Santa Lucia