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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

 

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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