메뉴 건너뛰기




Volumn 21, Issue 6, 2016, Pages 831-836

SORL1 rare variants: A major risk factor for familial early-onset Alzheimer's disease

(28)  Nicolas, G a,b   Charbonnier, C a,b   Wallon, D a,b   Quenez, O a,b   Bellenguez, C c,d,e   Grenier Boley, B c,d,e   Rousseau, S a   Richard, A C a   Rovelet Lecrux, A b   Le Guennec, K b   Bacq, D f   Garnier, J G f   Olaso, R f   Boland, A f   Meyer, V f   Deleuze, J F f,g   Amouyel, P c,d,e   Munter, H M h   Bourque, G h   Lathrop, M h   more..

c INSERM   (France)
f DIF   (France)

Author keywords

[No Author keywords available]

Indexed keywords

RECEPTOR; SORTILIN RELATED RECEPTOR 1; UNCLASSIFIED DRUG; AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; APP PROTEIN, HUMAN; CARRIER PROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; SORL1 PROTEIN, HUMAN;

EID: 84940054847     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2015.121     Document Type: Article
Times cited : (88)

References (23)
  • 1
    • 33846613222 scopus 로고    scopus 로고
    • The neuronal sortilinrelated receptor SORL1 is genetically associated with Alzheimer disease
    • Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F, et al. The neuronal sortilinrelated receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet 2007; 39: 168-177
    • (2007) Nat Genet , vol.39 , pp. 168-177
    • Rogaeva, E.1    Meng, Y.2    Lee, J.H.3    Gu, Y.4    Kawarai, T.5    Zou, F.6
  • 2
    • 58149373433 scopus 로고    scopus 로고
    • Loss of LR11/SORLA enhances early pathology in a mouse model of amyloidosis: Evidence for a proximal role in Alzheimer's disease
    • Dodson SE, Andersen OM, Karmali V, Fritz JJ, Cheng D, Peng J, et al. Loss of LR11/SORLA enhances early pathology in a mouse model of amyloidosis: evidence for a proximal role in Alzheimer's disease. J Neurosci 2008; 28: 12877-12886
    • (2008) J Neurosci , vol.28 , pp. 12877-12886
    • Dodson, S.E.1    Andersen, O.M.2    Karmali, V.3    Fritz, J.J.4    Cheng, D.5    Peng, J.6
  • 3
    • 26444607532 scopus 로고    scopus 로고
    • Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein
    • Andersen OM, Reiche J, Schmidt V, Gotthardt M, Spoelgen R, Behlke J, et al. Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein. Proc Natl Acad Sci USA 2005; 102: 13461-13466
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 13461-13466
    • Andersen, O.M.1    Reiche, J.2    Schmidt, V.3    Gotthardt, M.4    Spoelgen, R.5    Behlke, J.6
  • 4
    • 84896360551 scopus 로고    scopus 로고
    • Lysosomal sorting of amyloid-beta by the SORLA receptor is impaired by a familial Alzheimer's disease mutation
    • Caglayan S, Takagi-Niidome S, Liao F, Carlo AS, Schmidt V, Burgert T, et al. Lysosomal sorting of amyloid-beta by the SORLA receptor is impaired by a familial Alzheimer's disease mutation. Sci Transl Med 2014; 6: 223ra20
    • (2014) Sci Transl Med , vol.6 , pp. 223ra20
    • Caglayan, S.1    Takagi-Niidome, S.2    Liao, F.3    Carlo, A.S.4    Schmidt, V.5    Burgert, T.6
  • 5
    • 84866368227 scopus 로고    scopus 로고
    • High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease
    • Pottier C, Hannequin D, Coutant S, Rovelet-Lecrux A, Wallon D, Rousseau S, et al. High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Mol Psychiatry 2012; 17: 875-879
    • (2012) Mol Psychiatry , vol.17 , pp. 875-879
    • Pottier, C.1    Hannequin, D.2    Coutant, S.3    Rovelet-Lecrux, A.4    Wallon, D.5    Rousseau, S.6
  • 6
    • 79956142378 scopus 로고    scopus 로고
    • The diagnosis of dementia due to Alzheimer's disease: Recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease
    • McKhann GM, Knopman DS, Chertkow H, Hyman BT, Jack CR Jr, Kawas CH, et al. The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 2011; 7: 263-269
    • (2011) Alzheimers Dement , vol.7 , pp. 263-269
    • McKhann, G.M.1    Knopman, D.S.2    Chertkow, H.3    Hyman, B.T.4    Jack, C.R.5    Kawas, C.H.6
  • 8
    • 29444442794 scopus 로고    scopus 로고
    • APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
    • Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerriere A, Vital A, et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2006; 38: 24-26
    • (2006) Nat Genet , vol.38 , pp. 24-26
    • Rovelet-Lecrux, A.1    Hannequin, D.2    Raux, G.3    Le Meur, N.4    Laquerriere, A.5    Vital, A.6
  • 9
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011; 72: 245-256
    • (2011) Neuron , vol.72 , pp. 245-256
    • DeJesus-Hernandez, M.1    MacKenzie, I.R.2    Boeve, B.F.3    Boxer, A.L.4    Baker, M.5    Rutherford, N.J.6
  • 10
    • 84885183976 scopus 로고    scopus 로고
    • Validation of next-generation sequencing technologies in genetic diagnosis of dementia
    • Beck J, Pittman A, Adamson G, Campbell T, Kenny J, Houlden H, et al. Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiol Aging 2014; 35: 261-265
    • (2014) Neurobiol Aging , vol.35 , pp. 261-265
    • Beck, J.1    Pittman, A.2    Adamson, G.3    Campbell, T.4    Kenny, J.5    Houlden, H.6
  • 11
    • 77956295988 scopus 로고    scopus 로고
    • The genome analysis toolkit: A mapreduce framework for analyzing next-generation DNA sequencing data
    • McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20: 1297-1303
    • (2010) Genome Res , vol.20 , pp. 1297-1303
    • McKenna, A.1    Hanna, M.2    Banks, E.3    Sivachenko, A.4    Cibulskis, K.5    Kernytsky, A.6
  • 12
    • 77949587649 scopus 로고    scopus 로고
    • Fast and accurate long-read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 2010; 26: 589-595
    • (2010) Bioinformatics , vol.26 , pp. 589-595
    • Li, H.1    Durbin, R.2
  • 13
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: Functional annotation of genetic variants from high-Throughput sequencing data
    • Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-Throughput sequencing data. Nucleic Acids res 2010; 38: e164
    • (2010) Nucleic Acids Res , vol.38 , pp. e164
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 16
    • 84899859455 scopus 로고    scopus 로고
    • Variant association tools for quality control and analysis of large-scale sequence and genotyping array data
    • Wang GT, Peng B, Leal SM. Variant association tools for quality control and analysis of large-scale sequence and genotyping array data. Am J Hum Genet 2014; 94: 770-783
    • (2014) Am J Hum Genet , vol.94 , pp. 770-783
    • Wang, G.T.1    Peng, B.2    Leal, S.M.3
  • 17
    • 84888317489 scopus 로고    scopus 로고
    • Meta-Analysis of 74, 046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
    • Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, et al. Meta-Analysis of 74, 046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet 2013; 45: 1452-1458
    • (2013) Nat Genet , vol.45 , pp. 1452-1458
    • Lambert, J.C.1    Ibrahim-Verbaas, C.A.2    Harold, D.3    Naj, A.C.4    Sims, R.5    Bellenguez, C.6
  • 18
    • 84926222043 scopus 로고    scopus 로고
    • Elucidating molecular phenotypes caused by the SORL1 Alzheimer's disease genetic risk factor using human induced pluripotent stem cells
    • Young JE, Boulanger-Weill J, Williams DA, Woodruff G, Buen F, Revilla AC, et al. Elucidating molecular phenotypes caused by the SORL1 Alzheimer's disease genetic risk factor using human induced pluripotent stem cells. Cell Stem Cell 2015; 16: 373-385
    • (2015) Cell Stem Cell , vol.16 , pp. 373-385
    • Young, J.E.1    Boulanger-Weill, J.2    Williams, D.A.3    Woodruff, G.4    Buen, F.5    Revilla, A.C.6
  • 20
    • 84867188604 scopus 로고    scopus 로고
    • Rare and low frequency variant stratification in the UK population: Description and impact on association tests
    • Babron MC, de Tayrac M, Rutledge DN, Zeggini E, Genin E. Rare and low frequency variant stratification in the UK population: description and impact on association tests. PLoS One 2012; 7: e46519
    • (2012) PLoS One , vol.7 , pp. e46519
    • Babron, M.C.1    De Tayrac, M.2    Rutledge, D.N.3    Zeggini, E.4    Genin, E.5
  • 21
    • 84923082408 scopus 로고    scopus 로고
    • Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
    • Do R, Stitziel NO, Won HH, Jorgensen AB, Duga S, Angelica Merlini P, et al. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature 2015; 518: 102-106
    • (2015) Nature , vol.518 , pp. 102-106
    • Do, R.1    Stitziel, N.O.2    Won, H.H.3    Jorgensen, A.B.4    Duga, S.5    Angelica Merlini, P.6
  • 22
    • 84876852800 scopus 로고    scopus 로고
    • Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls
    • Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, et al. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet 2013; 9: e1003443
    • (2013) PLoS Genet , vol.9 , pp. e1003443
    • Liu, L.1    Sabo, A.2    Neale, B.M.3    Nagaswamy, U.4    Stevens, C.5    Lim, E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.