메뉴 건너뛰기




Volumn 8, Issue 4, 2018, Pages

The genetics of c9orf72 expansions

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; GUANINE NUCLEOTIDE EXCHANGE C9ORF72; C9ORF72 PROTEIN, HUMAN; ISOPROTEIN; REPETITIVE DNA;

EID: 85021882977     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a026757     Document Type: Article
Times cited : (19)

References (145)
  • 1
    • 84865172323 scopus 로고    scopus 로고
    • AL-SoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics
    • Abel O, Powell JF, Andersen PM, Al-Chalabi A. 2012. AL-SoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics. Hum Mutat 33: 1345–1351.
    • (2012) Hum Mutat , vol.33 , pp. 1345-1351
    • Abel, O.1    Powell, J.F.2    Andersen, P.M.3    Al-Chalabi, A.4
  • 4
    • 82355180826 scopus 로고    scopus 로고
    • P62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
    • Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobagyi T, Shaw CE. 2011. p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathol 122: 691–702.
    • (2011) Acta Neuropathol , vol.122 , pp. 691-702
    • Al-Sarraj, S.1    King, A.2    Troakes, C.3    Smith, B.4    Maekawa, S.5    Bodi, I.6    Rogelj, B.7    Al-Chalabi, A.8    Hortobagyi, T.9    Shaw, C.E.10
  • 10
    • 84876411369 scopus 로고    scopus 로고
    • Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population
    • Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, et al. 2013. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet 92: 345–353.
    • (2013) Am J Hum Genet , vol.92 , pp. 345-353
    • Beck, J.1    Poulter, M.2    Hensman, D.3    Rohrer, J.D.4    Mahoney, C.J.5    Adamson, G.6    Campbell, T.7    Uphill, J.8    Borg, A.9    Fratta, P.10
  • 17
    • 84862245802 scopus 로고    scopus 로고
    • Microglial activation correlates with disease progression and upper motor neuron clinical symptoms in amyotrophic lateral sclerosis
    • Brettschneider J, Toledo JB, Van Deerlin VM, Elman L, McCluskey L, Lee VM, Trojanowski JQ. 2012a. Microglial activation correlates with disease progression and upper motor neuron clinical symptoms in amyotrophic lateral sclerosis. PLoS ONE 7: e39216.
    • (2012) Plos ONE , vol.7
    • Brettschneider, J.1    Toledo, J.B.2    van Deerlin, V.M.3    Elman, L.4    McCluskey, L.5    Lee, V.M.6    Trojanowski, J.Q.7
  • 19
    • 84875840045 scopus 로고    scopus 로고
    • Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation
    • Buchman VL, Cooper-Knock J, Connor-Robson N, Higginbottom A, Kirby J, Razinskaya OD, Ninkina N, Shaw PJ. 2013. Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation. Mol Neurodegener 8: 12.
    • (2013) Mol Neurodegener , vol.8 , pp. 12
    • Buchman, V.L.1    Cooper-Knock, J.2    Connor-Robson, N.3    Higginbottom, A.4    Kirby, J.5    Razinskaya, O.D.6    Ninkina, N.7    Shaw, P.J.8
  • 20
    • 84857050135 scopus 로고    scopus 로고
    • Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: A population-based cohort study
    • Byrne S, Elamin M, Bede P, Shatunov A, Walsh C, Corr B, Heverin M, Jordan N, Kenna K, Lynch C, et al. 2012. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: A population-based cohort study. Lancet Neurol 11: 232–240.
    • (2012) Lancet Neurol , vol.11 , pp. 232-240
    • Byrne, S.1    Elamin, M.2    Bede, P.3    Shatunov, A.4    Walsh, C.5    Corr, B.6    Heverin, M.7    Jordan, N.8    Kenna, K.9    Lynch, C.10
  • 22
    • 81255143014 scopus 로고    scopus 로고
    • Epigenetic regulation of motor neuron cell death through DNA methylation
    • Chestnut BA, Chang Q, Price A, Lesuisse C, Wong M, Martin LJ. 2011. Epigenetic regulation of motor neuron cell death through DNA methylation. J Neurosci 31: 16619– 16636.
    • (2011) J Neurosci , vol.31 , pp. 16619-16636
    • Chestnut, B.A.1    Chang, Q.2    Price, A.3    Lesuisse, C.4    Wong, M.5    Martin, L.J.6
  • 23
    • 84857522741 scopus 로고    scopus 로고
    • Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
    • Chió A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, Sendtner M, Brunetti M, Ossola I, Calvo A, et al. 2012a. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain 135: 784–793.
    • (2012) Brain , vol.135 , pp. 784-793
    • Chió, A.1    Borghero, G.2    Restagno, G.3    Mora, G.4    Drepper, C.5    Traynor, B.J.6    Sendtner, M.7    Brunetti, M.8    Ossola, I.9    Calvo, A.10
  • 26
    • 84881531855 scopus 로고    scopus 로고
    • Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis
    • Ciura S, Lattante S, Le BI, Latouche M, Tostivint H, Brice A, Kabashi E. 2013. Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis. Ann Neurol 74: 180–187.
    • (2013) Ann Neurol , vol.74 , pp. 180-187
    • Ciura, S.1    Lattante, S.2    Le, B.I.3    Latouche, M.4    Tostivint, H.5    Brice, A.6    Kabashi, E.7
  • 28
    • 84865176138 scopus 로고    scopus 로고
    • Locus-spe-cific mutation databases for neurodegenerative brain diseases
    • Cruts M, Theuns J, Van Broeckhoven C. 2012. Locus-spe-cific mutation databases for neurodegenerative brain diseases. Hum Mutat 33: 1340–1344.
    • (2012) Hum Mutat , vol.33 , pp. 1340-1344
    • Cruts, M.1    Theuns, J.2    van Broeckhoven, C.3
  • 44
    • 0030137717 scopus 로고    scopus 로고
    • Identification of the gene FMR2, associated with FRAXE mental retardation
    • Gecz J, Gedeon AK, Sutherland GR, Mulley JC. 1996. Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet 13: 105–108.
    • (1996) Nat Genet , vol.13 , pp. 105-108
    • Gecz, J.1    Gedeon, A.K.2    Sutherland, G.R.3    Mulley, J.C.4
  • 45
    • 85045007323 scopus 로고    scopus 로고
    • Disease mechanisms of C9ORF72 repeat expansion
    • Gendron TF, Petrucelli L. 2017. Disease mechanisms of C9ORF72 repeat expansions. Cold Spring Harb Perspect Med doi: 10.1101/cshperspect.a024224.
    • (2017) Cold Spring Harb Perspect Me
    • Gendropetrucell, T.1
  • 50
    • 84881028349 scopus 로고    scopus 로고
    • A major genetic factor at chromosome 9p implicated in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD)
    • ed. Maurer MH, InTech, Rijeka, Croatia
    • Gijselinck I, Sleegers K, Van Broeckhoven C, Cruts M. 2012a. A major genetic factor at chromosome 9p implicated in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). In Amyotrophic lateral sclerosis (ed. Maurer MH), pp. 537–554. InTech, Rijeka, Croatia.
    • (2012) Amyotrophic Lateral Sclerosis , pp. 537-554
    • Gijselinck, I.1    Sleegers, K.2    van Broeckhoven, C.3    Cruts, M.4
  • 54
    • 0030138905 scopus 로고    scopus 로고
    • Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
    • Gu Y, Shen Y, Gibbs RA, Nelson DL. 1996. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet 13: 109–113.
    • (1996) Nat Genet , vol.13 , pp. 109-113
    • Gu, Y.1    Shen, Y.2    Gibbs, R.A.3    Nelson, D.L.4
  • 57
  • 59
    • 84872361069 scopus 로고    scopus 로고
    • Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis
    • Jang JH, Kwon MJ, Choi WJ, Oh KW, Koh SH, Ki CS, Kim SH. 2013. Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging 34: 1311– 1319.
    • (2013) Neurobiol Aging , vol.34 , pp. 1311-1319
    • Jang, J.H.1    Kwon, M.J.2    Choi, W.J.3    Oh, K.W.4    Koh, S.H.5    Ki, C.S.6    Kim, S.H.7
  • 63
    • 79957562827 scopus 로고    scopus 로고
    • Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43
    • King A, Maekawa S, Bodi I, Troakes C, Al-Sarraj S. 2011. Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43. Neuropathology. 31: 239–249.
    • (2011) Neuropathology , vol.31 , pp. 239-249
    • King, A.1    Maekawa, S.2    Bodi, I.3    Troakes, C.4    Al-Sarraj, S.5
  • 72
    • 67650741437 scopus 로고    scopus 로고
    • Frontotemporal dementia and motor neurone disease: Overlapping clinic-pathological disorders
    • Lillo P, Hodges JR. 2009. Frontotemporal dementia and motor neurone disease: Overlapping clinic-pathological disorders. J Clin Neurosci 16: 1131–1135.
    • (2009) J Clin Neurosci , vol.16 , pp. 1131-1135
    • Lillo, P.1    Hodges, J.R.2
  • 75
    • 0037044240 scopus 로고    scopus 로고
    • The overlap of amyotrophic lateral sclerosis and frontotemporal dementia
    • Lomen-Hoerth C, Anderson T, Miller B. 2002. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 59: 1077–1079.
    • (2002) Neurology , vol.59 , pp. 1077-1079
    • Lomen-Hoerth, C.1    Anderson, T.2    Miller, B.3
  • 78
    • 84858622829 scopus 로고    scopus 로고
    • Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
    • Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chió A, Restagno G, Nicolaou N, Simon-Sanchez J, et al. 2012. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 11: 323–330.
    • (2012) Lancet Neurol , vol.11 , pp. 323-330
    • Majounie, E.1    Renton, A.E.2    Mok, K.3    Dopper, E.G.4    Waite, A.5    Rollinson, S.6    Chió, A.7    Restagno, G.8    Nicolaou, N.9    Simon-Sanchez, J.10
  • 79
    • 77956216847 scopus 로고    scopus 로고
    • Mitochondrial and cell death mechanisms in neurodegenerative diseases
    • Martin LJ. 2010. Mitochondrial and cell death mechanisms in neurodegenerative diseases. Pharmaceuticals (Basel) 3: 839–915.
    • (2010) Pharmaceuticals (Basel) , vol.3 , pp. 839-915
    • Martin, L.J.1
  • 85
    • 84861889360 scopus 로고    scopus 로고
    • High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients
    • Mok KY, Koutsis G, Schottlaender LV, Polke J, Panas M, Houlden H. 2012. High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients. Neurobiol Aging 33: 1851–1855.
    • (2012) Neurobiol Aging , vol.33 , pp. 1851-1855
    • Mok, K.Y.1    Koutsis, G.2    Schottlaender, L.V.3    Polke, J.4    Panas, M.5    Houlden, H.6
  • 87
    • 70450158919 scopus 로고    scopus 로고
    • A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis
    • Morahan JM, Yu B, Trent RJ, Pamphlett R. 2009. A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler 10: 418–429.
    • (2009) Amyotroph Lateral Scler , vol.10 , pp. 418-429
    • Morahan, J.M.1    Yu, B.2    Trent, R.J.3    Pamphlett, R.4
  • 89
  • 98
    • 84861446524 scopus 로고    scopus 로고
    • Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: An Australian trio study
    • Pamphlett R, Cheong PL, Trent RJ, Yu B. 2012. Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: An Australian trio study. Neuroreport 23: 556–559.
    • (2012) Neuroreport , vol.23 , pp. 556-559
    • Pamphlett, R.1    Cheong, P.L.2    Trent, R.J.3    Yu, B.4
  • 99
    • 84896703334 scopus 로고    scopus 로고
    • Searching for Grendel: Origin and global spread of the C9ORF72 repeat expansion
    • Pliner HA, Mann DM, Traynor BJ. 2014. Searching for Grendel: Origin and global spread of the C9ORF72 repeat expansion. Acta Neuropathol 127: 391–396.
    • (2014) Acta Neuropathol , vol.127 , pp. 391-396
    • Pliner, H.A.1    Mann, D.M.2    Traynor, B.J.3
  • 106
    • 0035978743 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis
    • Rowland LP, Shneider NA. 2001. Amyotrophic lateral sclerosis. N Engl J Med 344: 1688–1700.
    • (2001) N Engl J Med , vol.344 , pp. 1688-1700
    • Rowland, L.P.1    Shneider, N.A.2
  • 119
    • 84892597871 scopus 로고    scopus 로고
    • Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. Elegans
    • Therrien M, Rouleau GA, Dion PA, Parker JA. 2013. Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans. PLoS ONE 8: e83450.
    • (2013) Plos ONE , vol.8
    • Therrien, M.1    Rouleau, G.A.2    Dion, P.A.3    Parker, J.A.4
  • 121
    • 84866600630 scopus 로고    scopus 로고
    • An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62–positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline
    • Troakes C, Maekawa S, Wijesekera L, Rogelj B, Siklos L, Bell C, Smith B, Newhouse S, Vance C, Johnson L, et al. 2011. An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62–positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline. Neuropathology 32: 505–514.
    • (2011) Neuropathology , vol.32 , pp. 505-514
    • Troakes, C.1    Maekawa, S.2    Wijesekera, L.3    Rogelj, B.4    Siklos, L.5    Bell, C.6    Smith, B.7    Newhouse, S.8    Vance, C.9    Johnson, L.10
  • 135
    • 85056706559 scopus 로고    scopus 로고
    • Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotempo- ral degeneration brain with the C9ORF72 hexanucleotide repeat expansion
    • Waite AJ, Baumer D, East S, Neal J, Morris HR, Ansorge O, Blake DJ. 2014. Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotempo- ral degeneration brain with the C9ORF72 hexanucleotide repeat expansion. Neurobiol Aging 35: 1779.
    • (2014) Neurobiol Aging , vol.35 , pp. 1779
    • Waite, A.J.1    Baumer, D.2    East, S.3    Neal, J.4    Morris, H.R.5    Ansorge, O.6    Blake, D.J.7
  • 136
    • 84926357619 scopus 로고    scopus 로고
    • Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death
    • Wen X, Tan W, Westergard T, Krishnamurthy K, Markan-daiah SS, Shi Y, Lin S, Shneider NA, Monaghan J, Pandey UB, et al. 2014. Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death. Neuron 84: 1213–1225.
    • (2014) Neuron , vol.84 , pp. 1213-1225
    • Wen, X.1    Tan, W.2    Westergard, T.3    Krishnamurthy, K.4    Markan-Daiah, S.S.5    Shi, Y.6    Lin, S.7    Shneider, N.A.8    Monaghan, J.9    Pandey, U.B.10
  • 137
    • 79961128595 scopus 로고    scopus 로고
    • CGG repeat in the FMR1 gene: Size matters
    • Willemsen R, Levenga J, Oostra BA. 2011. CGG repeat in the FMR1 gene: Size matters. Clin Genet 80: 214–225.
    • (2011) Clin Genet , vol.80 , pp. 214-225
    • Willemsen, R.1    Levenga, J.2    Oostra, B.A.3
  • 144
    • 84875241102 scopus 로고    scopus 로고
    • Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients
    • Zou ZY, Li XG, Liu MS, Cui LY. 2013. Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients. Neurobiol Aging 34: 1710–1716.
    • (2013) Neurobiol Aging , vol.34 , pp. 1710-1716
    • Zou, Z.Y.1    Li, X.G.2    Liu, M.S.3    Cui, L.Y.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.