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Volumn 36, Issue 2, 2015, Pages 1091-1096

Characterization of DNA G-quadruplex species forming from C9ORF72 G4C2-expanded repeats associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration

Author keywords

Amyotrophic lateral sclerosis; Chromosome 9 open reading frame 72; Expanded hexanucleotide repeats; Frontotemporal lobar degeneration; G quadruplex

Indexed keywords

GUANINE QUADRUPLEX; C9ORF72 PROTEIN, HUMAN; DNA; PROTEIN; REPETITIVE DNA; RNA;

EID: 84922813565     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2014.09.012     Document Type: Article
Times cited : (63)

References (42)
  • 1
    • 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., Hortobágyi T., Shaw C.E. 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. 2011, 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    Hortobágyi, T.9    Shaw, C.E.10
  • 4
    • 84890958553 scopus 로고    scopus 로고
    • Visualization and selective chemical targeting of RNA G-quadruplex structures in the cytoplasm of human cells
    • Biffi G., Di Antonio M., Tannahill D., Balasubramanian S. Visualization and selective chemical targeting of RNA G-quadruplex structures in the cytoplasm of human cells. Nat. Chem. 2014, 6:75-80.
    • (2014) Nat. Chem. , vol.6 , pp. 75-80
    • Biffi, G.1    Di Antonio, M.2    Tannahill, D.3    Balasubramanian, S.4
  • 5
    • 84875464903 scopus 로고    scopus 로고
    • Quantitative visualization of DNA G-quadruplex structures in human cells
    • Biffi G., Tannahill D., McCafferty J., Balasubramanian S. Quantitative visualization of DNA G-quadruplex structures in human cells. Nat. Chem. 2013, 5:182-186.
    • (2013) Nat. Chem. , vol.5 , pp. 182-186
    • Biffi, G.1    Tannahill, D.2    McCafferty, J.3    Balasubramanian, S.4
  • 6
    • 84890688724 scopus 로고    scopus 로고
    • Biophysical characterization of G-quadruplex forming FMR1 mRNA and of its interactions with different fragile X mental retardation protein isoforms
    • Blice-Baum A.C., Mihailescu M.-R. Biophysical characterization of G-quadruplex forming FMR1 mRNA and of its interactions with different fragile X mental retardation protein isoforms. RNA 2014, 20:103-114.
    • (2014) RNA , vol.20 , pp. 103-114
    • Blice-Baum, A.C.1    Mihailescu, M.-R.2
  • 7
    • 84867744921 scopus 로고    scopus 로고
    • DNA secondary structures: stability and function of G-quadruplex structures
    • Bochman M.L., Paeschke K., Zakian V.A. DNA secondary structures: stability and function of G-quadruplex structures. Nat. Rev. Genet. 2012, 13:770-780.
    • (2012) Nat. Rev. Genet. , vol.13 , pp. 770-780
    • Bochman, M.L.1    Paeschke, K.2    Zakian, V.A.3
  • 8
    • 84861367008 scopus 로고    scopus 로고
    • The RNA helicase RHAU (DHX36) unwinds a G4-quadruplex in human telomerase RNA and promotes the formation of the P1 helix template boundary
    • Booy E.P., Meier M., Okun N., Novakowski S.K., Xiong S., Stetefeld J., McKenna S.A. The RNA helicase RHAU (DHX36) unwinds a G4-quadruplex in human telomerase RNA and promotes the formation of the P1 helix template boundary. Nucleic Acids Res. 2012, 40:4110-4124.
    • (2012) Nucleic Acids Res. , vol.40 , pp. 4110-4124
    • Booy, E.P.1    Meier, M.2    Okun, N.3    Novakowski, S.K.4    Xiong, S.5    Stetefeld, J.6    McKenna, S.A.7
  • 9
    • 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 V.L., Cooper-Knock J., Connor-Robson N., Higginbottom A., Kirby J., Razinskaya O.D., Ninkina N., Shaw P.J. 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. 2013, 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
  • 12
    • 84884782975 scopus 로고    scopus 로고
    • Repeat-associated non-ATG (RAN) translation in neurological disease
    • Cleary J.D., Ranum L.P.W. Repeat-associated non-ATG (RAN) translation in neurological disease. Hum. Mol. Genet. 2013, 22:R45-R51.
    • (2013) Hum. Mol. Genet. , vol.22 , pp. R45-R51
    • Cleary, J.D.1    Ranum, L.P.W.2
  • 16
    • 84860518297 scopus 로고    scopus 로고
    • AG-rich element forms a G-quadruplex and regulates BACE1 mRNA alternative splicing
    • Fisette J.-F., Montagna D.R., Mihailescu M.-R., Wolfe M.S. AG-rich element forms a G-quadruplex and regulates BACE1 mRNA alternative splicing. J.Neurochem. 2012, 121:763-773.
    • (2012) J.Neurochem. , vol.121 , pp. 763-773
    • Fisette, J.-F.1    Montagna, D.R.2    Mihailescu, M.-R.3    Wolfe, M.S.4
  • 17
    • 84871801926 scopus 로고    scopus 로고
    • C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
    • Fratta P., Mizielinska S., Nicoll A.J., Zloh M., Fisher E.M.C., Parkinson G., Isaacs A.M. C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci. Rep. 2012, 2:1016.
    • (2012) Sci. Rep. , vol.2 , pp. 1016
    • Fratta, P.1    Mizielinska, S.2    Nicoll, A.J.3    Zloh, M.4    Fisher, E.M.C.5    Parkinson, G.6    Isaacs, A.M.7
  • 23
    • 20144364292 scopus 로고    scopus 로고
    • Prevalence of quadruplexes in the human genome
    • Huppert J.L., Balasubramanian S. Prevalence of quadruplexes in the human genome. Nucleic Acids Res. 2005, 33:2908-2916.
    • (2005) Nucleic Acids Res. , vol.33 , pp. 2908-2916
    • Huppert, J.L.1    Balasubramanian, S.2
  • 24
    • 84877768759 scopus 로고    scopus 로고
    • G-quadruplex structures are stable and detectable in human genomic DNA
    • Lam E.Y.N., Beraldi D., Tannahill D., Balasubramanian S. G-quadruplex structures are stable and detectable in human genomic DNA. Nat. Commun. 2013, 4:1796.
    • (2013) Nat. Commun. , vol.4 , pp. 1796
    • Lam, E.Y.N.1    Beraldi, D.2    Tannahill, D.3    Balasubramanian, S.4
  • 29
    • 78649511027 scopus 로고    scopus 로고
    • Small-molecule-mediated G-quadruplex isolation from human cells
    • Müller S., Kumari S., Rodriguez R., Balasubramanian S. Small-molecule-mediated G-quadruplex isolation from human cells. Nat. Chem. 2010, 2:1095-1098.
    • (2010) Nat. Chem. , vol.2 , pp. 1095-1098
    • Müller, S.1    Kumari, S.2    Rodriguez, R.3    Balasubramanian, S.4
  • 30
    • 68249156463 scopus 로고    scopus 로고
    • Formation of a unique end-to-end stacked pair of G-quadruplexes in the hTERT core promoter with implications for inhibition of telomerase by G-quadruplex-interactive ligands
    • Palumbo S.L., Ebbinghaus S.W., Hurley L.H. Formation of a unique end-to-end stacked pair of G-quadruplexes in the hTERT core promoter with implications for inhibition of telomerase by G-quadruplex-interactive ligands. J.Am. Chem. Soc. 2009, 131:10878-10891.
    • (2009) J.Am. Chem. Soc. , vol.131 , pp. 10878-10891
    • Palumbo, S.L.1    Ebbinghaus, S.W.2    Hurley, L.H.3
  • 31
    • 84875981640 scopus 로고    scopus 로고
    • The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures
    • Reddy K., Zamiri B., Stanley S.Y.R., Macgregor R.B., Pearson C.E. The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures. J.Biol. Chem. 2013, 288:9860-9866.
    • (2013) J.Biol. Chem. , vol.288 , pp. 9860-9866
    • Reddy, K.1    Zamiri, B.2    Stanley, S.Y.R.3    Macgregor, R.B.4    Pearson, C.E.5
  • 33
  • 34
    • 0023788886 scopus 로고
    • Formation of parallel four-stranded complexes by guanine-rich motifs in DNA and its implications for meiosis
    • Sen D., Gilbert W. Formation of parallel four-stranded complexes by guanine-rich motifs in DNA and its implications for meiosis. Nature 1988, 334:364-366.
    • (1988) Nature , vol.334 , pp. 364-366
    • Sen, D.1    Gilbert, W.2
  • 35
    • 77956428377 scopus 로고    scopus 로고
    • Tetramolecular DNA quadruplexes in solution: insights into structural diversity and cation movement
    • Sket P., Plavec J. Tetramolecular DNA quadruplexes in solution: insights into structural diversity and cation movement. J.Am. Chem. Soc. 2010, 132:12724-12732.
    • (2010) J.Am. Chem. Soc. , vol.132 , pp. 12724-12732
    • Sket, P.1    Plavec, J.2
  • 39
    • 84903819307 scopus 로고    scopus 로고
    • Unconventional features of C9ORF72 expanded repeat in amyotrophic lateral sclerosis and frontotemporal lobar degeneration
    • Vatovec S., Kovanda A., Rogelj B. Unconventional features of C9ORF72 expanded repeat in amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Neurobiol. Aging 2014, 35:2421.e1-2421.e12.
    • (2014) Neurobiol. Aging , vol.35
    • Vatovec, S.1    Kovanda, A.2    Rogelj, B.3
  • 40
    • 84896714434 scopus 로고    scopus 로고
    • Stimulation of ribosomal frameshifting by RNA G-quadruplex structures
    • Yu C.-H., Teulade-Fichou M.-P., Olsthoorn R.C.L. Stimulation of ribosomal frameshifting by RNA G-quadruplex structures. Nucleic Acids Res. 2014, 42:1887-1892.
    • (2014) Nucleic Acids Res. , vol.42 , pp. 1887-1892
    • Yu, C.-H.1    Teulade-Fichou, M.-P.2    Olsthoorn, R.C.L.3
  • 41
    • 84894465709 scopus 로고    scopus 로고
    • TMPyP4 porphyrin distorts RNA G-quadruplex structures of the disease-associated r(GGGGCC)n repeat of the C9orf72 gene and blocks interaction of RNA-binding proteins
    • Zamiri B., Reddy K., Macgregor R.B., Pearson C.E. TMPyP4 porphyrin distorts RNA G-quadruplex structures of the disease-associated r(GGGGCC)n repeat of the C9orf72 gene and blocks interaction of RNA-binding proteins. J.Biol. Chem. 2014, 289:4653-4659.
    • (2014) J.Biol. Chem. , vol.289 , pp. 4653-4659
    • Zamiri, B.1    Reddy, K.2    Macgregor, R.B.3    Pearson, C.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.