메뉴 건너뛰기




Volumn 48, Issue 9, 2016, Pages 1037-1042

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

(95)  Kenna, Kevin P a   Van Doormaal, Perry T C b   Dekker, Annelot M c   Ticozzi, Nicola d   Kenna, Brendan J d,e   Diekstra, Frank P f   Van Rheenen, Wouter y   Van Eijk, Kristel R c   Jones, Ashley R r   Keagle, Pamela a   Shatunov, Aleksey a   Sproviero, William c   Smith, Bradley N l   Van Es, Michael A e   Topp, Simon D h,n   Kenna, Aoife i   Miller, Jack W p   Fallini, Claudia j   Tiloca, Cinzia j   McLaughlin, Russell L t   more..

g IRCCS   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; NEK1 PROTEIN; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG; NEK1 PROTEIN, HUMAN; NIMA RELATED KINASE 1;

EID: 84979585471     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3626     Document Type: Article
Times cited : (203)

References (52)
  • 2
    • 77956642100 scopus 로고    scopus 로고
    • Exome sequencing identifes MLL2 mutations as a cause of Kabuki syndrome
    • Ng, S.B. et al. Exome sequencing identifes MLL2 mutations as a cause of Kabuki syndrome. Nat. Genet. 42, 790-793 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 790-793
    • Ng, S.B.1
  • 3
    • 84908224269 scopus 로고    scopus 로고
    • Exome-wide rare variant analysis identifes TUBA4A mutations associated with familial ALS
    • Smith, B.N. et al. Exome-wide rare variant analysis identifes TUBA4A mutations associated with familial ALS. Neuron 84, 324-331 (2014).
    • (2014) Neuron , vol.84 , pp. 324-331
    • Smith, B.N.1
  • 4
    • 84926503617 scopus 로고    scopus 로고
    • In silico prediction of splice-altering single nucleotide variants in the human genome
    • Jian, X., Boerwinkle, E. & Liu, X. In silico prediction of splice-altering single nucleotide variants in the human genome. Nucleic Acids Res. 42, 13534-13544 (2014).
    • (2014) Nucleic Acids Res. , vol.42 , pp. 13534-13544
    • Jian, X.1    Boerwinkle, E.2    Liu, X.3
  • 5
    • 84871578629 scopus 로고    scopus 로고
    • Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
    • Shihab, H.A. et al. Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum. Mutat. 34, 57-65 (2013).
    • (2013) Hum. Mutat. , vol.34 , pp. 57-65
    • Shihab, H.A.1
  • 6
    • 18644365196 scopus 로고    scopus 로고
    • A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)
    • Reid, E. et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am. J. Hum. Genet. 71, 1189-1194 (2002).
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 1189-1194
    • Reid, E.1
  • 7
    • 84945749129 scopus 로고    scopus 로고
    • Exome sequencing in amyotrophic lateral sclerosis identifes risk genes and pathways
    • Cirulli, E.T. et al. Exome sequencing in amyotrophic lateral sclerosis identifes risk genes and pathways. Science 347, 1436-1441 (2015).
    • (2015) Science , vol.347 , pp. 1436-1441
    • Cirulli, E.T.1
  • 8
    • 84966477966 scopus 로고    scopus 로고
    • NEK1 mutations in familial amyotrophic lateral sclerosis
    • Brenner, D. et al. NEK1 mutations in familial amyotrophic lateral sclerosis. Brain 139, e28 (2016).
    • (2016) Brain , vol.139 , pp. e28
    • Brenner, D.1
  • 9
    • 84893649256 scopus 로고    scopus 로고
    • State of play in amyotrophic lateral sclerosis genetics
    • Renton, A.E., Chiò, A. & Traynor, B.J. State of play in amyotrophic lateral sclerosis genetics. Nat. Neurosci. 17, 17-23 (2014).
    • (2014) Nat. Neurosci. , vol.17 , pp. 17-23
    • Renton, A.E.1    Chiò, A.2    Traynor, B.J.3
  • 10
    • 84890191949 scopus 로고    scopus 로고
    • Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
    • Kenna, K.P. et al. Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. J. Med. Genet. 50, 776-783 (2013).
    • (2013) J. Med. Genet. , vol.50 , pp. 776-783
    • Kenna, K.P.1
  • 11
    • 84863602161 scopus 로고    scopus 로고
    • Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease
    • Lattante, S. et al. Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease. Neurology 79, 66-72 (2012).
    • (2012) Neurology , vol.79 , pp. 66-72
    • Lattante, S.1
  • 12
    • 84871192467 scopus 로고    scopus 로고
    • Extensive genetics of ALS: A population-based study in Italy
    • Chiò, A. et al. Extensive genetics of ALS: a population-based study in Italy. Neurology 79, 1983-1989 (2012).
    • (2012) Neurology , vol.79 , pp. 1983-1989
    • Chiò, A.1
  • 13
    • 78650861071 scopus 로고    scopus 로고
    • NEK1 mutations cause short-rib polydactyly syndrome type majewski
    • Thiel, C. et al. NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am. J. Hum. Genet. 88, 106-114 (2011).
    • (2011) Am. J. Hum. Genet. , vol.88 , pp. 106-114
    • Thiel, C.1
  • 14
    • 42049111856 scopus 로고    scopus 로고
    • The mammalian Nek1 kinase is involved in primary cilium formation
    • Shalom, O., Shalva, N., Altschuler, Y. & Motro, B. The mammalian Nek1 kinase is involved in primary cilium formation. FEBS Lett. 582, 1465-1470 (2008).
    • (2008) FEBS Lett. , vol.582 , pp. 1465-1470
    • Shalom, O.1    Shalva, N.2    Altschuler, Y.3    Motro, B.4
  • 15
    • 47349119046 scopus 로고    scopus 로고
    • The NIMA-family kinase Nek1 affects the stability of centrosomes and ciliogenesis
    • White, M.C. & Quarmby, L.M. The NIMA-family kinase, Nek1 affects the stability of centrosomes and ciliogenesis. BMC Cell Biol. 9, 29 (2008).
    • (2008) BMC Cell Biol. , vol.9 , pp. 29
    • White, M.C.1    Quarmby, L.M.2
  • 16
    • 77951208687 scopus 로고    scopus 로고
    • The role of primary cilia in neuronal function
    • Lee, J.H. & Gleeson, J.G. The role of primary cilia in neuronal function. Neurobiol. Dis. 38, 167-172 (2010).
    • (2010) Neurobiol. Dis. , vol.38 , pp. 167-172
    • Lee, J.H.1    Gleeson, J.G.2
  • 17
    • 84880510314 scopus 로고    scopus 로고
    • Riding the wave of ependymal cilia: Genetic susceptibility to hydrocephalus in primary ciliary dyskinesia
    • Lee, L. Riding the wave of ependymal cilia: genetic susceptibility to hydrocephalus in primary ciliary dyskinesia. J. Neurosci. Res. 91, 1117-1132 (2013).
    • (2013) J. Neurosci. Res. , vol.91 , pp. 1117-1132
    • Lee, L.1
  • 19
    • 69449099723 scopus 로고    scopus 로고
    • The NIMA-family kinase Nek3 regulates microtubule acetylation in neurons
    • Chang, J., Baloh, R.H. & Milbrandt, J. The NIMA-family kinase Nek3 regulates microtubule acetylation in neurons. J. Cell Sci. 122, 2274-2282 (2009).
    • (2009) J. Cell Sci. , vol.122 , pp. 2274-2282
    • Chang, J.1    Baloh, R.H.2    Milbrandt, J.3
  • 20
    • 0037382240 scopus 로고    scopus 로고
    • Mutant dynactin in motor neuron disease
    • Puls, I. et al. Mutant dynactin in motor neuron disease. Nat. Genet. 33, 455-456 (2003).
    • (2003) Nat. Genet. , vol.33 , pp. 455-456
    • Puls, I.1
  • 21
    • 79960554348 scopus 로고    scopus 로고
    • Adenylyl cyclase type 3, a marker of primary cilia, is reduced in primary cell culture and in lumbar spinal cord in situ in G93A SOD1 mice
    • Ma, X., Peterson, R. & Turnbull, J. Adenylyl cyclase type 3, a marker of primary cilia, is reduced in primary cell culture and in lumbar spinal cord in situ in G93A SOD1 mice. BMC Neurosci. 12, 71 (2011).
    • (2011) BMC Neurosci. , vol.12 , pp. 71
    • Ma, X.1    Peterson, R.2    Turnbull, J.3
  • 22
    • 58549095067 scopus 로고    scopus 로고
    • Nek1 regulates cell death and mitochondrial membrane permeability through phosphorylation of VDAC1
    • Chen, Y., Craigen, W.J. & Riley, D.J. Nek1 regulates cell death and mitochondrial membrane permeability through phosphorylation of VDAC1. Cell Cycle 8, 257-267 (2009).
    • (2009) Cell Cycle , vol.8 , pp. 257-267
    • Chen, Y.1    Craigen, W.J.2    Riley, D.J.3
  • 23
    • 77956257918 scopus 로고    scopus 로고
    • Nek1 silencing slows down DNA repair and blocks DNA damage-induced cell cycle arrest
    • Pelegrini, A.L. et al. Nek1 silencing slows down DNA repair and blocks DNA damage-induced cell cycle arrest. Mutagenesis 25, 447-454 (2010).
    • (2010) Mutagenesis , vol.25 , pp. 447-454
    • Pelegrini, A.L.1
  • 24
    • 84910653137 scopus 로고    scopus 로고
    • Functions of FUS/TLS from DNA repair to stress response: Implications for ALS
    • 1759091414544472
    • Sama, R.R., Ward, C.L. & Bosco, D.A. Functions of FUS/TLS from DNA repair to stress response: implications for ALS. ASN Neuro 6, 1759091414544472 (2014).
    • (2014) ASN Neuro , vol.6
    • Sama, R.R.1    Ward, C.L.2    Bosco, D.A.3
  • 25
    • 84941007556 scopus 로고    scopus 로고
    • SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis
    • Tafuri, F., Ronchi, D., Magri, F., Comi, G.P. & Corti, S. SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis. Front. Cell. Neurosci. 9, 336 (2015).
    • (2015) Front. Cell. Neurosci. , vol.9 , pp. 336
    • Tafuri, F.1    Ronchi, D.2    Magri, F.3    Comi, G.P.4    Corti, S.5
  • 26
    • 84904324446 scopus 로고    scopus 로고
    • DNA damage and its links to neurodegeneration
    • Madabhushi, R., Pan, L. & Tsai, L.H. DNA damage and its links to neurodegeneration. Neuron 83, 266-282 (2014).
    • (2014) Neuron , vol.83 , pp. 266-282
    • Madabhushi, R.1    Pan, L.2    Tsai, L.H.3
  • 27
    • 84938739004 scopus 로고    scopus 로고
    • DNA damage in neurodegenerative diseases
    • Coppedè, F. & Migliore, L. DNA damage in neurodegenerative diseases. Mutat. Res. 776, 84-97 (2015).
    • (2015) Mutat. Res. , vol.776 , pp. 84-97
    • Coppedè, F.1    Migliore, L.2
  • 28
    • 84938389137 scopus 로고    scopus 로고
    • Identifcation of genetic factors that modify clinical onset of Huntington's disease
    • Genetic Modifers of Huntington's Disease (GeM-HD) Consortium. Identifcation of genetic factors that modify clinical onset of Huntington's disease. Cell 162, 516-526 (2015).
    • (2015) Cell , vol.162 , pp. 516-526
  • 29
    • 0346963147 scopus 로고    scopus 로고
    • Identifcation of proteins that interact with the central coiled-coil region of the human protein kinase NEK1
    • Surpili, M.J., Delben, T.M. & Kobarg, J. Identifcation of proteins that interact with the central coiled-coil region of the human protein kinase NEK1. Biochemistry 42, 15369-15376 (2003).
    • (2003) Biochemistry , vol.42 , pp. 15369-15376
    • Surpili, M.J.1    Delben, T.M.2    Kobarg, J.3
  • 30
    • 84891750628 scopus 로고    scopus 로고
    • NCBI's Database of Genotypes and Phenotypes: DbGaP
    • Tryka, K.A. et al. NCBI's Database of Genotypes and Phenotypes: dbGaP. Nucleic Acids Res. 42, D975-D979 (2014).
    • (2014) Nucleic Acids Res. , vol.42 , pp. D975-D979
    • Tryka, K.A.1
  • 31
    • 79955483667 scopus 로고    scopus 로고
    • A framework for variation discovery and genotyping using next-generation DNA sequencing data
    • DePristo, M.A. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43, 491-498 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 491-498
    • DePristo, M.A.1
  • 32
    • 84921850275 scopus 로고    scopus 로고
    • Reducing INDEL calling errors in whole genome and exome sequencing data
    • Fang, H. et al. Reducing INDEL calling errors in whole genome and exome sequencing data. Genome Med. 6, 89 (2014).
    • (2014) Genome Med. , vol.6 , pp. 89
    • Fang, H.1
  • 33
    • 84881018840 scopus 로고    scopus 로고
    • Isaac: Ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
    • Raczy, C. et al. Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms. Bioinformatics 29, 2041-2043 (2013).
    • (2013) Bioinformatics , vol.29 , pp. 2041-2043
    • Raczy, C.1
  • 34
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007).
    • (2007) Am. J. Hum. Genet. , vol.81 , pp. 559-575
    • Purcell, S.1
  • 35
    • 78149265272 scopus 로고    scopus 로고
    • Robust relationship inference in genome-wide association studies
    • Manichaikul, A. et al. Robust relationship inference in genome-wide association studies. Bioinformatics 26, 2867-2873 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 2867-2873
    • Manichaikul, A.1
  • 37
    • 0037199788 scopus 로고    scopus 로고
    • A solution to the problem of separation in logistic regression
    • Heinze, G. & Schemper, M. A solution to the problem of separation in logistic regression. Stat. Med. 21, 2409-2419 (2002).
    • (2002) Stat. Med. , vol.21 , pp. 2409-2419
    • Heinze, G.1    Schemper, M.2
  • 38
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1, 092 human genomes
    • 1000 Genomes Project Consortium. An integrated map of genetic variation from 1, 092 human genomes. Nature 491, 56-65 (2012).
    • (2012) Nature , vol.491 , pp. 56-65
  • 39
    • 84862506964 scopus 로고    scopus 로고
    • 1118; Iso-2; iso-3
    • 1118; iso-2; iso-3. Fly (Austin) 6, 80-92 (2012).
    • (2012) Fly (Austin) , vol.6 , pp. 80-92
    • Cingolani, P.1
  • 40
    • 84878799611 scopus 로고    scopus 로고
    • Adzhubei, I., Jordan, D.M. & Sunyaev, S.R. Predicting functional effect of human missense mutations using PolyPhen-2. Curr. Protoc. Hum. Genet. Chapter 7, Unit 7.20 (2013).
  • 41
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar, P., Henikoff, S. & Ng, P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4, 1073-1081 (2009).
    • (2009) Nat. Protoc. , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 42
    • 69749122314 scopus 로고    scopus 로고
    • Identifcation of deleterious mutations within three human genomes
    • Chun, S. & Fay, J.C. Identifcation of deleterious mutations within three human genomes. Genome Res. 19, 1553-1561 (2009).
    • (2009) Genome Res. , vol.19 , pp. 1553-1561
    • Chun, S.1    Fay, J.C.2
  • 43
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz, J.M., Rödelsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 7, 575-576 (2010).
    • (2010) Nat. Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rödelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 44
    • 80053189298 scopus 로고    scopus 로고
    • Predicting the functional impact of protein mutations: Application to cancer genomics
    • Reva, B., Antipin, Y. & Sander, C. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res. 39, e118 (2011).
    • (2011) Nucleic Acids Res. , vol.39 , pp. e118
    • Reva, B.1    Antipin, Y.2    Sander, C.3
  • 45
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher, M. et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat. Genet. 46, 310-315 (2014).
    • (2014) Nat. Genet. , vol.46 , pp. 310-315
    • Kircher, M.1
  • 46
    • 84867301515 scopus 로고    scopus 로고
    • Predicting the functional effect of amino acid substitutions and indels
    • Choi, Y., Sims, G.E., Murphy, S., Miller, J.R. & Chan, A.P. Predicting the functional effect of amino acid substitutions and indels. PLoS One 7, e46688 (2012).
    • (2012) PLoS One , vol.7 , pp. e46688
    • Choi, Y.1    Sims, G.E.2    Murphy, S.3    Miller, J.R.4    Chan, A.P.5
  • 47
    • 78651237647 scopus 로고    scopus 로고
    • Identifying a high fraction of the human genome to be under selective constraint using GERP++
    • Davydov, E.V. et al. Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput. Biol. 6, e1001025 (2010).
    • (2010) PLoS Comput. Biol. , vol.6 , pp. e1001025
    • Davydov, E.V.1
  • 48
    • 22244452677 scopus 로고    scopus 로고
    • Distribution and intensity of constraint in mammalian genomic sequence
    • Cooper, G.M. et al. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 15, 901-913 (2005).
    • (2005) Genome Res. , vol.15 , pp. 901-913
    • Cooper, G.M.1
  • 49
    • 66349086264 scopus 로고    scopus 로고
    • Identifying novel constrained elements by exploiting biased substitution patterns
    • Garber, M. et al. Identifying novel constrained elements by exploiting biased substitution patterns. Bioinformatics 25, i54-i62 (2009).
    • (2009) Bioinformatics , vol.25 , pp. i54-i62
    • Garber, M.1
  • 50
    • 84957942283 scopus 로고    scopus 로고
    • DbNSFP v3.0: A one-stop database of functional predictions and annotations for human non-synonymous and splice site SNVs
    • Liu, X., Wu, C., Li, C. & Boerwinkle, E. dbNSFP v3.0: a one-stop database of functional predictions and annotations for human non-synonymous and splice site SNVs. Hum. Mutat. 37, 235-241 (2016).
    • (2016) Hum. Mutat. , vol.37 , pp. 235-241
    • Liu, X.1    Wu, C.2    Li, C.3    Boerwinkle, E.4
  • 51
    • 67849083083 scopus 로고    scopus 로고
    • HomozygosityMapper-an interactive approach to homozygosity mapping
    • Seelow, D., Schuelke, M., Hildebrandt, F. & Nürnberg, P. HomozygosityMapper-an interactive approach to homozygosity mapping. Nucleic Acids Res. 37, W593-W599 (2009).
    • (2009) Nucleic Acids Res. , vol.37 , pp. W593-W599
    • Seelow, D.1    Schuelke, M.2    Hildebrandt, F.3    Nürnberg, P.4
  • 52
    • 77955894071 scopus 로고    scopus 로고
    • METAL: Fast and effcient meta-analysis of genomewide association scans
    • Willer, C.J., Li, Y. & Abecasis, G.R. METAL: fast and effcient meta-analysis of genomewide association scans. Bioinformatics 26, 2190-2191 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 2190-2191
    • Willer, C.J.1    Li, Y.2    Abecasis, G.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.