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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

TitleMutations in the open reading frame of the β-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease
Authors
Issue Date2001
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/10048/index.htm
Citation
Neurogenetics, 2001, v. 3 n. 4, p. 203-206 How to Cite?
Abstract
Amyloid 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.
Persistent Identifierhttp://hdl.handle.net/10722/147463
ISSN
2013 Impact Factor: 2.658
ISI Accession Number ID
References

 

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
DC FieldValueLanguage
dc.contributor.authorNicolaou, Men_US
dc.contributor.authorSong, YQen_US
dc.contributor.authorSato, CAen_US
dc.contributor.authorOrlacchio, Aen_US
dc.contributor.authorKawarai, Ten_US
dc.contributor.authorMedeiros, Hen_US
dc.contributor.authorLiang, Yen_US
dc.contributor.authorSorbi, Sen_US
dc.contributor.authorRichard, Een_US
dc.contributor.authorRogaev, EIen_US
dc.contributor.authorMoliaka, Yen_US
dc.contributor.authorBruni, ACen_US
dc.contributor.authorJorge, Ren_US
dc.contributor.authorPercy, Men_US
dc.contributor.authorDuara, Ren_US
dc.contributor.authorFarrer, LAen_US
dc.contributor.authorSt GeorgeHyslop, Pen_US
dc.contributor.authorRogaeva, EAen_US
dc.date.accessioned2012-05-29T06:03:54Z-
dc.date.available2012-05-29T06:03:54Z-
dc.date.issued2001en_US
dc.identifier.citationNeurogenetics, 2001, v. 3 n. 4, p. 203-206en_US
dc.identifier.issn1364-6745en_US
dc.identifier.urihttp://hdl.handle.net/10722/147463-
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.en_US
dc.languageengen_US
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/10048/index.htmen_US
dc.relation.ispartofNeurogeneticsen_US
dc.subject.meshAgeden_US
dc.subject.meshAged, 80 And Overen_US
dc.subject.meshAlzheimer Disease - Geneticsen_US
dc.subject.meshAmyloid Precursor Protein Secretasesen_US
dc.subject.meshAspartic Acid Endopeptidases - Geneticsen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshEndopeptidasesen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshGenetic Markersen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHumansen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutationen_US
dc.subject.meshOpen Reading Frames - Geneticsen_US
dc.titleMutations in the open reading frame of the β-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's diseaseen_US
dc.typeArticleen_US
dc.identifier.emailSong, YQ:songy@hkucc.hku.hken_US
dc.identifier.authoritySong, YQ=rp00488en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1007/s100480100123en_US
dc.identifier.pmid11714100en_US
dc.identifier.scopuseid_2-s2.0-0035486922en_US
dc.identifier.hkuros69644-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0035486922&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume3en_US
dc.identifier.issue4en_US
dc.identifier.spage203en_US
dc.identifier.epage206en_US
dc.identifier.isiWOS:000171833400004-
dc.publisher.placeGermanyen_US
dc.identifier.scopusauthoridNicolaou, M=8690928100en_US
dc.identifier.scopusauthoridSong, YQ=7404921212en_US
dc.identifier.scopusauthoridSato, CA=7201887342en_US
dc.identifier.scopusauthoridOrlacchio, A=35074779600en_US
dc.identifier.scopusauthoridKawarai, T=7003632751en_US
dc.identifier.scopusauthoridMedeiros, H=35418557900en_US
dc.identifier.scopusauthoridLiang, Y=26642980800en_US
dc.identifier.scopusauthoridSorbi, S=7004417453en_US
dc.identifier.scopusauthoridRichard, E=7005030055en_US
dc.identifier.scopusauthoridRogaev, EI=35391858800en_US
dc.identifier.scopusauthoridMoliaka, Y=6603152152en_US
dc.identifier.scopusauthoridBruni, AC=7102347222en_US
dc.identifier.scopusauthoridJorge, R=7003825222en_US
dc.identifier.scopusauthoridPercy, M=7005300764en_US
dc.identifier.scopusauthoridDuara, R=7005297173en_US
dc.identifier.scopusauthoridFarrer, LA=7005139839en_US
dc.identifier.scopusauthoridSt GeorgeHyslop, P=7005637468en_US
dc.identifier.scopusauthoridRogaeva, EA=35372614800en_US

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