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Article: The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
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TitleThe neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
 
AuthorsRogaeva, E12 7
Meng, Y9 4
Lee, JH15 10
Gu, Y12 7
Kawarai, T12 7
Zou, F6 1
Katayama, T12 7
Baldwin, CT9 4
Cheng, R15 10
Hasegawa, H12 7
Chen, F12 7
Shibata, N12 7
Lunetta, KL9 4
PardossiPiquard, R12 7
Bohm, C12 7
Wakutani, Y12 7
Cupples, LA9 4
Cuenco, KT9 4
Green, RC9 4
Pinessi, L5
Rainero, I5
Sorbi, S8
Bruni, A16
Duara, R19 3
Friedland, RP13
Inzelberg, R17
Hampe, W11
Bujo, H18
Song, YQ2
Andersen, OM14
Willnow, TE14
GraffRadford, N6
Petersen, RC6
Dickson, D6
Der, SD12 7
Fraser, PE12 7
SchmittUlms, G12 7
Younkin, S6
Mayeux, R15 10
Farrer, LA15 4
St GeorgeHyslop, P12 7
 
Issue Date2007
 
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
 
CitationNature Genetics, 2007, v. 39 n. 2, p. 168-177 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ng1943
 
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.
 
ISSN1061-4036
2013 Impact Factor: 29.648
2013 SCImago Journal Rankings: 24.052
 
DOIhttp://dx.doi.org/10.1038/ng1943
 
ISI Accession Number IDWOS:000244063900014
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorRogaeva, E
 
dc.contributor.authorMeng, Y
 
dc.contributor.authorLee, JH
 
dc.contributor.authorGu, Y
 
dc.contributor.authorKawarai, T
 
dc.contributor.authorZou, F
 
dc.contributor.authorKatayama, T
 
dc.contributor.authorBaldwin, CT
 
dc.contributor.authorCheng, R
 
dc.contributor.authorHasegawa, H
 
dc.contributor.authorChen, F
 
dc.contributor.authorShibata, N
 
dc.contributor.authorLunetta, KL
 
dc.contributor.authorPardossiPiquard, R
 
dc.contributor.authorBohm, C
 
dc.contributor.authorWakutani, Y
 
dc.contributor.authorCupples, LA
 
dc.contributor.authorCuenco, KT
 
dc.contributor.authorGreen, RC
 
dc.contributor.authorPinessi, L
 
dc.contributor.authorRainero, I
 
dc.contributor.authorSorbi, S
 
dc.contributor.authorBruni, A
 
dc.contributor.authorDuara, R
 
dc.contributor.authorFriedland, RP
 
dc.contributor.authorInzelberg, R
 
dc.contributor.authorHampe, W
 
dc.contributor.authorBujo, H
 
dc.contributor.authorSong, YQ
 
dc.contributor.authorAndersen, OM
 
dc.contributor.authorWillnow, TE
 
dc.contributor.authorGraffRadford, N
 
dc.contributor.authorPetersen, RC
 
dc.contributor.authorDickson, D
 
dc.contributor.authorDer, SD
 
dc.contributor.authorFraser, PE
 
dc.contributor.authorSchmittUlms, G
 
dc.contributor.authorYounkin, S
 
dc.contributor.authorMayeux, R
 
dc.contributor.authorFarrer, LA
 
dc.contributor.authorSt GeorgeHyslop, P
 
dc.date.accessioned2012-05-29T06:04:35Z
 
dc.date.available2012-05-29T06:04:35Z
 
dc.date.issued2007
 
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.
 
dc.description.naturelink_to_subscribed_fulltext
 
dc.identifier.citationNature Genetics, 2007, v. 39 n. 2, p. 168-177 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ng1943
 
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dc.identifier.doihttp://dx.doi.org/10.1038/ng1943
 
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dc.identifier.isiWOS:000244063900014
 
dc.identifier.issn1061-4036
2013 Impact Factor: 29.648
2013 SCImago Journal Rankings: 24.052
 
dc.identifier.issue2
 
dc.identifier.pmid17220890
 
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dc.identifier.spage168
 
dc.identifier.urihttp://hdl.handle.net/10722/147558
 
dc.identifier.volume39
 
dc.languageeng
 
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
 
dc.publisher.placeUnited States
 
dc.relation.ispartofNature Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAge Of Onset
 
dc.subject.meshAlzheimer Disease - Genetics
 
dc.subject.meshAmyloid Beta-Peptides - Metabolism
 
dc.subject.meshAmyloid Beta-Protein Precursor - Metabolism
 
dc.subject.meshCell Line
 
dc.subject.meshEndosomes - Metabolism
 
dc.subject.meshGenetic Variation
 
dc.subject.meshHaplotypes
 
dc.subject.meshHumans
 
dc.subject.meshIntrons
 
dc.subject.meshLdl-Receptor Related Proteins - Genetics
 
dc.subject.meshMembrane Transport Proteins - Genetics
 
dc.subject.meshModels, Genetic
 
dc.subject.meshOrgan Specificity
 
dc.subject.meshPolymorphism, Single Nucleotide
 
dc.subject.meshProtease Nexins
 
dc.subject.meshReceptors, Cell Surface - Metabolism
 
dc.subject.meshVesicular Transport Proteins - Metabolism
 
dc.titleThe neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
 
dc.typeArticle
 
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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