메뉴 건너뛰기




Volumn 505, Issue 7484, 2014, Pages 550-554

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

(80)  Cruchaga, Carlos a   Karch, Celeste M a   Jin, Sheng Chih a   Benitez, Bruno A a   Cai, Yefei a   Guerreiro, Rita b,c   Harari, Oscar a   Norton, Joanne a   Budde, John a   Bertelsen, Sarah a   Jeng, Amanda T a   Cooper, Breanna a   Skorupa, Tara a   Carrell, David a   Levitch, Denise a   Hsu, Simon a   Choi, Jiyoon a   Ryten, Mina b   Hardy, John b   Trabzuni, Daniah b   more..

f CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN[1-40]; AMYLOID BETA PROTEIN[1-42]; AMYLOID PRECURSOR PROTEIN;

EID: 84892819277     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature12825     Document Type: Article
Times cited : (383)

References (48)
  • 2
    • 84888317489 scopus 로고    scopus 로고
    • Extendedmeta-analysisof74 046 individuals identifies11new susceptibility loci for Alzheimer's disease
    • 27 October 2013
    • Lambert, J. C. et al. Extendedmeta-analysisof74, 046 individuals identifies11new susceptibility loci for Alzheimer's disease. Nature Genet. http://dx.doi.org/10.1038/ng.2802 (27 October 2013).
    • Nature Genet
    • Lambert, J.C.1
  • 3
    • 84655162701 scopus 로고    scopus 로고
    • Twenty years of Alzheimer's disease-causing mutations
    • Goate, A. & Hardy, J. Twenty years of Alzheimer's disease-causing mutations. J. Neurochem. 120 (Suppl. 1), 3-8 (2012).
    • (2012) J. Neurochem. , vol.120 , Issue.SUPPL. 1 , pp. 3-8
    • Goate, A.1    Hardy, J.2
  • 4
    • 84864471159 scopus 로고    scopus 로고
    • A mutation in APP protects against Alzheimer's disease and age-related cognitive decline
    • Jonsson, T. et al. A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature 488, 96-99 (2012).
    • (2012) Nature , vol.488 , pp. 96-99
    • Jonsson, T.1
  • 5
    • 84875261136 scopus 로고    scopus 로고
    • TREM2 is associated with the risk of Alzheimer's disease in Spanish population
    • Benitez, B. A. et al. TREM2 is associated with the risk of Alzheimer's disease in Spanish population. Neurobiol. Aging 34, e1715-e31717 (2013).
    • (2013) Neurobiol. Aging , vol.34
    • Benitez, B.A.1
  • 6
    • 84885821412 scopus 로고    scopus 로고
    • TREM2 and neurodegenerative disease
    • Benitez, B. A. & Cruchaga, C. TREM2 and neurodegenerative disease. N. Engl. J. Med. 369, 1567-1568 (2013).
    • (2013) N. Engl. J. Med. , vol.369 , pp. 1567-1568
    • Benitez, B.A.1    Cruchaga, C.2
  • 7
    • 84872057940 scopus 로고    scopus 로고
    • TREM2 variants in Alzheimer's disease
    • Guerreiro, R. et al. TREM2 variants in Alzheimer's disease. N. Engl. J. Med. 368, 117-127 (2013).
    • (2013) N. Engl. J. Med. , vol.368 , pp. 117-127
    • Guerreiro, R.1
  • 8
    • 84872088087 scopus 로고    scopus 로고
    • Variant of TREM2 associated with the risk of Alzheimer's disease
    • Jonsson, T. et al. Variant of TREM2 associated with the risk of Alzheimer's disease. N. Engl. J. Med. (2013).
    • (2013) N. Engl. J. Med.
    • Jonsson, T.1
  • 9
    • 84856541277 scopus 로고    scopus 로고
    • Rare variants in APP PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families
    • Cruchaga, C. et al. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. PLoS ONE 7, e31039 (2012)
    • (2012) PLoS ONE , vol.7
    • Cruchaga, C.1
  • 10
    • 85081459427 scopus 로고    scopus 로고
    • Correction http://dx.doi.org/10.1371/annotation/c92e16da-7733-421d-b063- 1db19488daa6 (2012).
    • (2012) Correction
  • 11
    • 84878782299 scopus 로고    scopus 로고
    • C9orf72 hexanucleotide repeat expansions in clinical alzheimer disease
    • Harms, M. et al. C9orf72 hexanucleotide repeat expansions in clinical alzheimer disease. JAMA Neurol. 70, 736-741 (2013).
    • (2013) JAMA Neurol. , vol.70 , pp. 736-741
    • Harms, M.1
  • 12
    • 84876786043 scopus 로고    scopus 로고
    • GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's Disease
    • Cruchaga, C. et al. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's Disease. Neuron (2013).
    • (2013) Neuron
    • Cruchaga, C.1
  • 13
    • 79952256613 scopus 로고    scopus 로고
    • Genome-wide association of familial late-onset Alzheimer's diseasereplicates BIN1andCLUandnominatesCUGBP2ininteraction withAPOE
    • Wijsman, E. M. et al. Genome-wide association of familial late-onset Alzheimer's diseasereplicates BIN1andCLUandnominatesCUGBP2ininteraction withAPOE. PLoS Genet. 7, e1001308 (2011).
    • (2011) PLoS Genet. , vol.7
    • Wijsman, E.M.1
  • 14
    • 0033595026 scopus 로고    scopus 로고
    • APOE-e4 count predicts age when prevalence of AD increases, then declines: The Cache County Study
    • Breitner, J. C. et al. APOE-e4 count predicts age when prevalence of AD increases, then declines: the Cache County Study. Neurology 53, 321-331 (1999).
    • (1999) Neurology , vol.53 , pp. 321-331
    • Breitner, J.C.1
  • 15
    • 84861318502 scopus 로고    scopus 로고
    • Genome-wide association study of Alzheimer's disease
    • Kamboh, M. I. et al. Genome-wide association study of Alzheimer's disease. Transl. Psychiatry 2, e117 (2012).
    • (2012) Transl. Psychiatry , vol.2
    • Kamboh, M.I.1
  • 16
    • 32444439640 scopus 로고    scopus 로고
    • Phospholipase D1 corrects impaired bAPP trafficking and neurite outgrowth in familial Alzheimer's disease-linked presenilin-1 mutant neurons
    • Cai, D. et al. Phospholipase D1 corrects impaired bAPP trafficking and neurite outgrowth in familial Alzheimer's disease-linked presenilin-1 mutant neurons. Proc. Natl Acad. Sci. USA 103, 1936-1940 (2006).
    • (2006) Proc. Natl Acad. Sci. USA , vol.103 , pp. 1936-1940
    • Cai, D.1
  • 17
    • 32444434357 scopus 로고    scopus 로고
    • Presenilin-1 uses phospholipase D1 as a negative regulator of b-amyloid formation
    • Cai, D. et al. Presenilin-1 uses phospholipase D1 as a negative regulator of b-amyloid formation. Proc. Natl Acad. Sci. USA 103, 1941-1946 (2006).
    • (2006) Proc. Natl Acad. Sci. USA , vol.103 , pp. 1941-1946
    • Cai, D.1
  • 18
    • 78650064098 scopus 로고    scopus 로고
    • Phospholipase d2 ablation ameliorates Alzheimer's disease-linked synaptic dysfunction and cognitive deficits
    • Oliveira, T. G. et al. Phospholipase d2 ablation ameliorates Alzheimer's disease-linked synaptic dysfunction and cognitive deficits. J. Neurosci. 30, 16419-16428 (2010).
    • (2010) J. Neurosci. , vol.30 , pp. 16419-16428
    • Oliveira, T.G.1
  • 19
    • 84858061079 scopus 로고    scopus 로고
    • A role for phospholipase D3 in myotube formation
    • Osisami, M., Ali, W. & Frohman, M. A. A role for phospholipase D3 in myotube formation. PLoS ONE 7, e33341 (2012).
    • (2012) PLoS ONE , vol.7
    • Osisami, M.1    Ali, W.2    Frohman, M.A.3
  • 20
    • 0025899041 scopus 로고
    • Amyloid deposition as the central event in the aetiology of Alzheimer's disease
    • Hardy, J. & Allsop, D. Amyloid deposition as the central event in the aetiology of Alzheimer's disease. Trends Pharmacol. Sci. 12, 383-388 (1991).
    • (1991) Trends Pharmacol. Sci. , vol.12 , pp. 383-388
    • Hardy, J.1    Allsop, D.2
  • 21
    • 80455149806 scopus 로고    scopus 로고
    • Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis
    • Benitez, B. A. et al. Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. PLoS ONE 6, e26741 (2011).
    • (2011) PLoS ONE , vol.6
    • Benitez, B.A.1
  • 22
    • 79955748378 scopus 로고    scopus 로고
    • Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels
    • Cruchaga, C. et al. Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels. Arch. Neurol. 68, 581-586 (2011).
    • (2011) Arch. Neurol. , vol.68 , pp. 581-586
    • Cruchaga, C.1
  • 23
    • 80051564625 scopus 로고    scopus 로고
    • Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease
    • Cruchaga, C. et al. Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease. Arch. Neurol. 68, 1013-1019 (2011).
    • (2011) Arch. Neurol. , vol.68 , pp. 1013-1019
    • Cruchaga, C.1
  • 24
    • 84868030363 scopus 로고    scopus 로고
    • Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort
    • Jin, S. C. et al. Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort. Alzheimer's Res. Ther. 4, 34 (2012).
    • (2012) Alzheimer's Res. Ther. , vol.4 , pp. 34
    • Jin, S.C.1
  • 25
    • 84884647935 scopus 로고    scopus 로고
    • The PSEN1 p E318G variant increases the risk of Alzheimer's disease in APOE-e4 carriers
    • Benitez, B. A. et al. The PSEN1, p. E318G Variant Increases the Risk of Alzheimer's Disease in APOE-e4 Carriers. PLoS Genet. 9, e1003685 (2013).
    • (2013) PLoS Genet. , vol.9
    • Benitez, B.A.1
  • 26
    • 80051499915 scopus 로고    scopus 로고
    • Rare-variant association testing for sequencing data with the sequence kernel association test
    • Wu, M. C. et al. Rare-variant association testing for sequencing data with the sequence kernel association test. Am. J. Hum. Genet. 89, 82-93 (2011).
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 82-93
    • Wu, M.C.1
  • 27
    • 41949086089 scopus 로고    scopus 로고
    • Alzheimer's disease is associated with reduced expression of energy metabolism genesinposterior cingulate neurons
    • Liang, W. S. et al. Alzheimer's disease is associated with reduced expression of energy metabolism genesinposterior cingulate neurons. Proc. Natl Acad. Sci. USA 105, 4441-4446 (2008).
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , pp. 4441-4446
    • Liang, W.S.1
  • 28
    • 0027425211 scopus 로고
    • The Clinical Dementia Rating (CDR): Current version and scoring rules
    • Morris, J. C. The Clinical Dementia Rating (CDR): current version and scoring rules. Neurology 43, 2412-2414 (1993).
    • (1993) Neurology , vol.43 , pp. 2412-2414
    • Morris, J.C.1
  • 29
    • 33644832047 scopus 로고    scopus 로고
    • 42 in humans
    • 42 in humans. Ann. Neurol. 59, 512-519 (2006).
    • (2006) Ann. Neurol. , vol.59 , pp. 512-519
    • Fagan, A.M.1
  • 30
    • 0021271971 scopus 로고
    • Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease
    • McKhann, G. et al. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 34, 939-944 (1984).
    • (1984) Neurology , vol.34 , pp. 939-944
    • McKhann, G.1
  • 31
    • 68549104404 scopus 로고    scopus 로고
    • The Sequence Alignment/Map format and SAMtools
    • Li, H. et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078-2079 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 2078-2079
    • Li, H.1
  • 32
    • 78049448191 scopus 로고    scopus 로고
    • SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease
    • Cruchaga, C. et al. SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease. PLoS Genet. 6, e1001101 (2010).
    • (2010) PLoS Genet. , vol.6
    • Cruchaga, C.1
  • 33
    • 78650037265 scopus 로고    scopus 로고
    • High-throughput discovery of rare insertions and deletions in large cohorts
    • Vallania, F. L. et al. High-throughput discovery of rare insertions and deletions in large cohorts. Genome Res. 20, 1711-1718 (2010).
    • (2010) Genome Res. , vol.20 , pp. 1711-1718
    • Vallania, F.L.1
  • 34
    • 36549053104 scopus 로고    scopus 로고
    • Asurveyofgenetic human cortical gene expression
    • Myers, A. J. et al. Asurveyofgenetic human cortical gene expression. Nature Genet. 39, 1494-1499 (2007).
    • (2007) Nature Genet. , vol.39 , pp. 1494-1499
    • Myers, A.J.1
  • 35
    • 84884155361 scopus 로고    scopus 로고
    • Insights into TREM2 biology by networkanalysisofhumangeneexpressiondata
    • Forabosco, P., Ramasamy, A., Hardy, J. & Ryten, M. Insights into TREM2 biology by networkanalysisofhumangeneexpressiondata. Neurobiol. Aging34, 2699-2714 (2013).
    • (2013) Neurobiol. Aging , vol.34 , pp. 2699-2714
    • Forabosco, P.1    Ramasamy, A.2    Hardy, J.3    Ryten, M.4
  • 36
    • 36749042713 scopus 로고    scopus 로고
    • Tissue and organ donation for research in forensic pathology: The MRC Sudden Death Brain and Tissue Bank
    • Millar, T. et al. Tissue and organ donation for research in forensic pathology: the MRC Sudden Death Brain and Tissue Bank. J. Pathol. 213, 369-375 (2007).
    • (2007) J. Pathol. , vol.213 , pp. 369-375
    • Millar, T.1
  • 37
    • 80053572217 scopus 로고    scopus 로고
    • Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies
    • Trabzuni, D. et al. Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies. J. Neurochem. 119, 275-282 (2011).
    • (2011) J. Neurochem. , vol.119 , pp. 275-282
    • Trabzuni, D.1
  • 38
    • 58549112996 scopus 로고    scopus 로고
    • Bioinformatics enrichment tools: Paths toward the comprehensive functional analysis of large gene lists
    • Huang, D. W., Sherman, B. T. & Lempicki, R. A. Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists. Nucleic Acids Res. 37, 1-13 (2009).
    • (2009) Nucleic Acids Res. , vol.37 , pp. 1-13
    • Huang, D.W.1    Sherman, B.T.2    Lempicki, R.A.3
  • 39
    • 68949098307 scopus 로고    scopus 로고
    • Signed weighted gene co-expression network analysis of transcriptional regulation in murine embryonic stem cells
    • Mason, M. J., Fan, G., Plath, K., Zhou, Q. & Horvath, S. Signed weighted gene co-expression network analysis of transcriptional regulation in murine embryonic stem cells. BMC Genomics 10, 327 (2009).
    • (2009) BMC Genomics , vol.10 , pp. 327
    • Mason, M.J.1    Fan, G.2    Plath, K.3    Zhou, Q.4    Horvath, S.5
  • 40
    • 23944458138 scopus 로고    scopus 로고
    • A general framework for weighted gene co-expression network analysis
    • 12 August 2005
    • Zhang, B. & Horvath, S. A general framework for weighted gene co-expression network analysis. Statist. Appl. Gen. Mol. Biol. http://dx.doi.org/10.2202/1544-6115.1128 (12 August 2005).
    • Statist. Appl. Gen. Mol. Biol
    • Zhang, B.1    Horvath, S.2
  • 41
    • 84857030932 scopus 로고    scopus 로고
    • National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease: A practical approach
    • Montine, T. J. et al. National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease: a practical approach. Acta Neuropathol. 123, 1-11 (2012).
    • (2012) Acta Neuropathol. , vol.123 , pp. 1-11
    • Montine, T.J.1
  • 42
    • 33144489150 scopus 로고    scopus 로고
    • Diagnosis and management of dementia with Lewy bodies: Third report of the DLB Consortium
    • McKeith, I. G. et al. Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology 65, 1863-1872 (2005).
    • (2005) Neurology , vol.65 , pp. 1863-1872
    • McKeith, I.G.1
  • 43
    • 0242331600 scopus 로고    scopus 로고
    • A presenilin dimer at the core of the c-secretase enzyme: Insights from parallel analysis of Notch 1 and APP proteolysis
    • Schroeter, E. H. et al. A presenilin dimer at the core of the c-secretase enzyme: insights from parallel analysis of Notch 1 and APP proteolysis. Proc. Natl Acad. Sci. USA 100, 13075-13080 (2003).
    • (2003) Proc. Natl Acad. Sci. USA , vol.100 , pp. 13075-13080
    • Schroeter, E.H.1
  • 44
    • 0008855384 scopus 로고    scopus 로고
    • Characterization of two alternately spliced forms of phospholipase D1
    • Hammond, S. M. et al. Characterization of two alternately spliced forms of phospholipase D1. J. Biol. Chem. 272, 3860-3868 (1997).
    • (1997) J. Biol. Chem. , vol.272 , pp. 3860-3868
    • Hammond, S.M.1
  • 45
    • 0030803536 scopus 로고    scopus 로고
    • MutagenesisofphospholipaseDdefinesasuperfamilyincluding a trans-Golgi viral protein required for poxvirus pathogenicity
    • Sung, T. C. et al. MutagenesisofphospholipaseDdefinesasuperfamilyincluding a trans-Golgi viral protein required for poxvirus pathogenicity. EMBO J. 16, 4519-4530 (1997).
    • (1997) EMBO J. , vol.16 , pp. 4519-4530
    • Sung, T.C.1
  • 46
    • 0031105873 scopus 로고    scopus 로고
    • Phospholipase D2, adistinct phospholipase D isoform with novel regulatory properties that provokes cytoskeletal reorganization
    • Colley, W. C. et al. Phospholipase D2, adistinct phospholipase D isoform with novel regulatory properties that provokes cytoskeletal reorganization. Curr. Biol. 7, 191-201 (1997).
    • (1997) Curr. Biol. , vol.7 , pp. 191-201
    • Colley, W.C.1
  • 47
    • 79951798741 scopus 로고    scopus 로고
    • Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease
    • Kauwe, J. S. K. et al. Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease PLoS One 6, e15918 (2011).
    • (2011) PLoS One , vol.6
    • Kauwe, J.S.K.1
  • 48
    • 0017613305 scopus 로고
    • Peptide mapping by limited proteolysis in sodium dodecyl sulfate and analysis by gel electrophoresis
    • Cleveland, D. W., Fischer, S. G., Kirschner, M. W. & Laemmli, U. K. Peptide mapping by limited proteolysis in sodium dodecyl sulfate and analysis by gel electrophoresis. J. Biol. Chem. 252, 1102-1106 (1977).
    • (1977) J. Biol. Chem. , vol.252 , pp. 1102-1106
    • Cleveland, D.W.1    Fischer, S.G.2    Kirschner, M.W.3    Laemmli, U.K.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.