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Article: The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

TitleThe neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
Authors
Issue Date2007
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Citation
Nature Genetics, 2007, v. 39 n. 2, p. 168-177 How to Cite?
Abstract
The recycling of the amyloid precursor protein (APP) from the cell surface via the endocytic pathways plays a key role in the generation of amyloid Β peptide (AΒ) in Alzheimer disease. We report here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease. These variants, which occur in at least two different clusters of intronic sequences within the SORL1 gene (also known as LR11 or SORLA) may regulate tissue-specific expression of SORL1. We also show that SORL1 directs trafficking of APP into recycling pathways and that when SORL1 is underexpressed, APP is sorted into AΒ-generating compartments. These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease. © 2007 Nature Publishing Group.
Persistent Identifierhttp://hdl.handle.net/10722/147558
ISSN
2013 Impact Factor: 29.648
2013 SCImago Journal Rankings: 24.052
ISI Accession Number ID
References

 

Author Affiliations
  1. Mayo Clinic in Rochester, Minnesota
  2. The University of Hong Kong
  3. Mount Sinai Medical Center Miami Beach
  4. Boston University School of Public Health
  5. Università degli Studi di Torino
  6. Mayo Clinic in Jacksonville, Florida
  7. Toronto Western Hospital University of Toronto
  8. Università degli Studi di Firenze
  9. Boston University School of Medicine
  10. Columbia University Medical Center
  11. Universitätsklinikum Hamburg-Eppendorf und Medizinische Fakultät
  12. University of Toronto
  13. Case Western Reserve University
  14. Max Delbruck Center for Molecular Medicine
  15. Columbia University, College of Physicians and Surgeons
  16. Regional Center of Neurogenetics
  17. The Ruth and Bruce Rappaport Faculty of Medicine
  18. Chiba University
  19. University of Miami Leonard M. Miller School of Medicine
DC FieldValueLanguage
dc.contributor.authorRogaeva, Een_US
dc.contributor.authorMeng, Yen_US
dc.contributor.authorLee, JHen_US
dc.contributor.authorGu, Yen_US
dc.contributor.authorKawarai, Ten_US
dc.contributor.authorZou, Fen_US
dc.contributor.authorKatayama, Ten_US
dc.contributor.authorBaldwin, CTen_US
dc.contributor.authorCheng, Ren_US
dc.contributor.authorHasegawa, Hen_US
dc.contributor.authorChen, Fen_US
dc.contributor.authorShibata, Nen_US
dc.contributor.authorLunetta, KLen_US
dc.contributor.authorPardossiPiquard, Ren_US
dc.contributor.authorBohm, Cen_US
dc.contributor.authorWakutani, Yen_US
dc.contributor.authorCupples, LAen_US
dc.contributor.authorCuenco, KTen_US
dc.contributor.authorGreen, RCen_US
dc.contributor.authorPinessi, Len_US
dc.contributor.authorRainero, Ien_US
dc.contributor.authorSorbi, Sen_US
dc.contributor.authorBruni, Aen_US
dc.contributor.authorDuara, Ren_US
dc.contributor.authorFriedland, RPen_US
dc.contributor.authorInzelberg, Ren_US
dc.contributor.authorHampe, Wen_US
dc.contributor.authorBujo, Hen_US
dc.contributor.authorSong, YQen_US
dc.contributor.authorAndersen, OMen_US
dc.contributor.authorWillnow, TEen_US
dc.contributor.authorGraffRadford, Nen_US
dc.contributor.authorPetersen, RCen_US
dc.contributor.authorDickson, Den_US
dc.contributor.authorDer, SDen_US
dc.contributor.authorFraser, PEen_US
dc.contributor.authorSchmittUlms, Gen_US
dc.contributor.authorYounkin, Sen_US
dc.contributor.authorMayeux, Ren_US
dc.contributor.authorFarrer, LAen_US
dc.contributor.authorSt GeorgeHyslop, Pen_US
dc.date.accessioned2012-05-29T06:04:35Z-
dc.date.available2012-05-29T06:04:35Z-
dc.date.issued2007en_US
dc.identifier.citationNature Genetics, 2007, v. 39 n. 2, p. 168-177en_US
dc.identifier.issn1061-4036en_US
dc.identifier.urihttp://hdl.handle.net/10722/147558-
dc.description.abstractThe recycling of the amyloid precursor protein (APP) from the cell surface via the endocytic pathways plays a key role in the generation of amyloid Β peptide (AΒ) in Alzheimer disease. We report here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease. These variants, which occur in at least two different clusters of intronic sequences within the SORL1 gene (also known as LR11 or SORLA) may regulate tissue-specific expression of SORL1. We also show that SORL1 directs trafficking of APP into recycling pathways and that when SORL1 is underexpressed, APP is sorted into AΒ-generating compartments. These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease. © 2007 Nature Publishing Group.en_US
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.comen_US
dc.relation.ispartofNature Geneticsen_US
dc.subject.meshAge Of Onseten_US
dc.subject.meshAlzheimer Disease - Geneticsen_US
dc.subject.meshAmyloid Beta-Peptides - Metabolismen_US
dc.subject.meshAmyloid Beta-Protein Precursor - Metabolismen_US
dc.subject.meshCell Lineen_US
dc.subject.meshEndosomes - Metabolismen_US
dc.subject.meshGenetic Variationen_US
dc.subject.meshHaplotypesen_US
dc.subject.meshHumansen_US
dc.subject.meshIntronsen_US
dc.subject.meshLdl-Receptor Related Proteins - Geneticsen_US
dc.subject.meshMembrane Transport Proteins - Geneticsen_US
dc.subject.meshModels, Geneticen_US
dc.subject.meshOrgan Specificityen_US
dc.subject.meshPolymorphism, Single Nucleotideen_US
dc.subject.meshProtease Nexinsen_US
dc.subject.meshReceptors, Cell Surface - Metabolismen_US
dc.subject.meshVesicular Transport Proteins - Metabolismen_US
dc.titleThe neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer 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.doi10.1038/ng1943en_US
dc.identifier.pmid17220890en_US
dc.identifier.scopuseid_2-s2.0-33846613222en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33846613222&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume39en_US
dc.identifier.issue2en_US
dc.identifier.spage168en_US
dc.identifier.epage177en_US
dc.identifier.isiWOS:000244063900014-
dc.publisher.placeUnited Statesen_US
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dc.identifier.scopusauthoridRogaeva, E=35372614800en_US
dc.identifier.scopusauthoridMeng, Y=8603106300en_US
dc.identifier.scopusauthoridLee, JH=16319281700en_US
dc.identifier.scopusauthoridGu, Y=7403045915en_US
dc.identifier.scopusauthoridKawarai, T=7003632751en_US
dc.identifier.scopusauthoridZou, F=15836054500en_US
dc.identifier.scopusauthoridKatayama, T=7401478639en_US
dc.identifier.scopusauthoridBaldwin, CT=7201893542en_US
dc.identifier.scopusauthoridCheng, R=7201955209en_US
dc.identifier.scopusauthoridHasegawa, H=7403526828en_US
dc.identifier.scopusauthoridChen, F=7404907428en_US
dc.identifier.scopusauthoridShibata, N=35400742700en_US
dc.identifier.scopusauthoridLunetta, KL=6701853655en_US
dc.identifier.scopusauthoridPardossiPiquard, R=13404377800en_US
dc.identifier.scopusauthoridBohm, C=13402982500en_US
dc.identifier.scopusauthoridWakutani, Y=6701747112en_US
dc.identifier.scopusauthoridCupples, LA=7007090535en_US
dc.identifier.scopusauthoridCuenco, KT=6506157707en_US
dc.identifier.scopusauthoridGreen, RC=26643307400en_US
dc.identifier.scopusauthoridPinessi, L=7004379523en_US
dc.identifier.scopusauthoridRainero, I=7003753505en_US
dc.identifier.scopusauthoridSorbi, S=7004417453en_US
dc.identifier.scopusauthoridBruni, A=7102347222en_US
dc.identifier.scopusauthoridDuara, R=7005297173en_US
dc.identifier.scopusauthoridFriedland, RP=7005771534en_US
dc.identifier.scopusauthoridInzelberg, R=26643291100en_US
dc.identifier.scopusauthoridHampe, W=6603613426en_US
dc.identifier.scopusauthoridBujo, H=7006264133en_US
dc.identifier.scopusauthoridSong, YQ=7404921212en_US
dc.identifier.scopusauthoridAndersen, OM=7201530146en_US
dc.identifier.scopusauthoridWillnow, TE=7006311617en_US
dc.identifier.scopusauthoridGraffRadford, N=7005520221en_US
dc.identifier.scopusauthoridPetersen, RC=7201919015en_US
dc.identifier.scopusauthoridDickson, D=35355842400en_US
dc.identifier.scopusauthoridDer, SD=7003963925en_US
dc.identifier.scopusauthoridFraser, PE=35408135200en_US
dc.identifier.scopusauthoridSchmittUlms, G=6508293809en_US
dc.identifier.scopusauthoridYounkin, S=35379996800en_US
dc.identifier.scopusauthoridMayeux, R=7101793222en_US
dc.identifier.scopusauthoridFarrer, LA=7005139839en_US
dc.identifier.scopusauthoridSt GeorgeHyslop, P=7005637468en_US
dc.identifier.citeulike1044523-

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