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, E7 13
Meng, Y5 9
Lee, JH10 15
Gu, Y7 13
Kawarai, T7 13
Zou, F1 4
Katayama, T7 13
Baldwin, CT5 9
Cheng, R10 15
Hasegawa, H7 13
Chen, F7 13
Shibata, N7 13
Lunetta, KL5 9
PardossiPiquard, R7 13
Bohm, C7 13
Wakutani, Y7 13
Cupples, LA5 9
Cuenco, KT5 9
Green, RC5 9
Pinessi, L6
Rainero, I6
Sorbi, S8
Bruni, A17
Duara, R3 16
Friedland, RP11
Inzelberg, R18
Hampe, W14
Bujo, H19
Song, YQ2
Andersen, OM12
Willnow, TE12
GraffRadford, N4
Petersen, RC4
Dickson, D4
Der, SD7 13
Fraser, PE7 13
SchmittUlms, G7 13
Younkin, S4
Mayeux, R10 15
Farrer, LA5 15
St GeorgeHyslop, P7 13
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
2011 Impact Factor: 35.532
2011 SCImago Journal Rankings: 8.923
DOIhttp://dx.doi.org/10.1038/ng1943
ISI Accession Number IDWOS:000244063900014
ReferencesReferences in Scopus
DC Field
Value
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
dc.identifier.citeulike1044523
dc.identifier.doihttp://dx.doi.org/10.1038/ng1943
dc.identifier.epage177
dc.identifier.isiWOS:000244063900014
dc.identifier.issn1061-4036
2011 Impact Factor: 35.532
2011 SCImago Journal Rankings: 8.923
dc.identifier.issue2
dc.identifier.pmid17220890
dc.identifier.scopuseid_2-s2.0-33846613222
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
Author Affiliations
  1. Mayo Clinic in Rochester, Minnesota
  2. The University of Hong Kong
  3. Mount Sinai Medical Center Miami Beach
  4. Mayo Clinic in Jacksonville, Florida
  5. Boston University School of Public Health
  6. Università degli Studi di Torino
  7. Toronto Western Hospital
  8. Università degli Studi di Firenze
  9. Boston University School of Medicine
  10. Columbia University Medical Center
  11. Case Western Reserve University
  12. Max Delbruck Center for Molecular Medicine
  13. University of Toronto
  14. Universitätsklinikum Hamburg-Eppendorf und Medizinische Fakultät
  15. Columbia University, College of Physicians and Surgeons
  16. University of Miami Leonard M. Miller School of Medicine
  17. Regional Center of Neurogenetics
  18. The Ruth and Bruce Rappaport Faculty of Medicine
  19. Chiba University