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Fratta, P., Mizielinska, S., Nicoll, A. J., Zloh, M., Fisher, E. M. C., Parkinson, G., & Isaacs, A. M. (2012). C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Scientific Reports, 2(1).

Authors 7
  1. Pietro Fratta (first)
  2. Sarah Mizielinska (additional)
  3. Andrew J. Nicoll (additional)
  4. Mire Zloh (additional)
  5. Elizabeth M. C. Fisher (additional)
  6. Gary Parkinson (additional)
  7. Adrian M. Isaacs (additional)
References 40 Referenced 291
  1. Haverkamp, L. J., Appel, V. & Appel, S. H. Natural history of amyotrophic lateral sclerosis in a database population. Validation of a scoring system and a model for survival prediction. Brain 118 (Pt 3), 707–719 (1995). (10.1093/brain/118.3.707) / Brain by LJ Haverkamp (1995)
  2. McKhann, G. M. et al. Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch. Neurol. 58, 1803–1809 (2001). (10.1001/archneur.58.11.1803) / Arch. Neurol. by GM McKhann (2001)
  3. Neary, D. et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 51, 1546–1554 (1998). (10.1212/WNL.51.6.1546) / Neurology by D Neary (1998)
  4. Lillo, P. & Hodges, J. R. Frontotemporal dementia and motor neurone disease: overlapping clinic-pathological disorders. J Clin Neurosci 16, 1131–1135 (2009). (10.1016/j.jocn.2009.03.005) / J Clin Neurosci by P Lillo (2009)
  5. DeJesus-Hernandez, M. et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245–256 (2011). (10.1016/j.neuron.2011.09.011) / Neuron by M DeJesus-Hernandez (2011)
  6. Renton, A. E. et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257–268 (2011). (10.1016/j.neuron.2011.09.010) / Neuron by AE Renton (2011)
  7. Campbell, N. H. & Neidle, S. G-quadruplexes and metal ions. Met Ions Life Sci 10, 119–134 (2012). (10.1007/978-94-007-2172-2_4) / Met Ions Life Sci by NH Campbell (2012)
  8. Xu, Y., Suzuki, Y., Ito, K. & Komiyama, M. Telomeric repeat-containing RNA structure in living cells. Proc. Natl. Acad. Sci. U.S.A. 107, 14579–14584 (2010). (10.1073/pnas.1001177107) / Proc. Natl. Acad. Sci. U.S.A. by Y Xu (2010)
  9. Kikin, O., Zappala, Z., D'Antonio, L. & Bagga, P. S. GRSDB2 and GRS_UTRdb: databases of quadruplex forming G-rich sequences in pre-mRNAs and mRNAs. Nucleic Acids Res 36, D141–D148 (2008). (10.1093/nar/gkm982) / Nucleic Acids Res by O Kikin (2008)
  10. Huppert, J. L., Bugaut, A., Kumari, S. & Balasubramanian, S. G-quadruplexes: the beginning and end of UTRs. Nucleic Acids Res. 36, 6260–6268 (2008). (10.1093/nar/gkn511) / Nucleic Acids Res. by JL Huppert (2008)
  11. Eddy, J. & Maizels, N. Conserved elements with potential to form polymorphic G-quadruplex structures in the first intron of human genes. Nucleic Acids Res. 36, 1321–1333 (2008). (10.1093/nar/gkm1138) / Nucleic Acids Res. by J Eddy (2008)
  12. Subramanian, M. et al. G-quadruplex RNA structure as a signal for neurite mRNA targeting. EMBO Rep. 12, 697–704 (2011). (10.1038/embor.2011.76) / EMBO Rep. by M Subramanian (2011)
  13. Collie, G. W. & Parkinson, G. N. The application of DNA and RNA G-quadruplexes to therapeutic medicines. Chem Soc Rev 40, 5867–5892 (2011). (10.1039/c1cs15067g) / Chem Soc Rev by GW Collie (2011)
  14. Ji, X. et al. Research progress of RNA quadruplex. Nucleic Acid Ther 21, 185–200 (2011). (10.1089/nat.2010.0272) / Nucleic Acid Ther by X Ji (2011)
  15. Cooper, T. A., Wan, L. & Dreyfuss, G. RNA and Disease. Cell 136, 777–793 (2009). (10.1016/j.cell.2009.02.011) / Cell by TA Cooper (2009)
  16. Gijselinck, I. et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 11, 54–65 (2012). (10.1016/S1474-4422(11)70261-7) / Lancet Neurol by I Gijselinck (2012)
  17. Rutherford, N. J. et al. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol. Aging 33, 2950.e5–7 (2012). (10.1016/j.neurobiolaging.2012.07.005) / Neurobiol. Aging by NJ Rutherford (2012)
  18. Wong, H. M., Stegle, O., Rodgers, S. & Huppert, J. L. A Toolbox for Predicting G-Quadruplex Formation and Stability. J Nucleic Acids 2010 (2010). (10.4061/2010/564946)
  19. Kumari, S., Bugaut, A., Huppert, J. L. & Balasubramanian, S. An RNA G-quadruplex in the 5′ UTR of the NRAS proto-oncogene modulates translation. Nat Chem Biol 3, 218–221 (2007). (10.1038/nchembio864) / Nat Chem Biol by S Kumari (2007)
  20. Wieland, M. & Hartig, J. S. RNA quadruplex-based modulation of gene expression. Chem. Biol. 14, 757–763 (2007). (10.1016/j.chembiol.2007.06.005) / Chem. Biol. by M Wieland (2007)
  21. Tran, P. L. T., Cian, A. D., Gros, J., Moriyama, R. & Mergny, J.-L. Tetramolecular Quadruplex Stability and Assembly. Topics in current chemistry (2012). (10.1007/128_2012_334)
  22. Collie, G. W., Haider, S. M., Neidle, S. & Parkinson, G. N. A crystallographic and modelling study of a human telomeric RNA (TERRA) quadruplex. Nucleic Acids Res. 38, 5569–5580 (2010). (10.1093/nar/gkq259) / Nucleic Acids Res. by GW Collie (2010)
  23. Tang, C.-F. & Shafer, R. H. Engineering the quadruplex fold: nucleoside conformation determines both folding topology and molecularity in guanine quadruplexes. J. Am. Chem. Soc. 128, 5966–5973 (2006). (10.1021/ja0603958) / J. Am. Chem. Soc. by C-F Tang (2006)
  24. Martadinata, H., Heddi, B., Lim, K. W. & Phan, A. T. Structure of long human telomeric RNA (TERRA): G-quadruplexes formed by four and eight UUAGGG repeats are stable building blocks. Biochemistry 50, 6455–6461 (2011). (10.1021/bi200569f) / Biochemistry by H Martadinata (2011)
  25. Collie, G. W. et al. Electrospray mass spectrometry of telomeric RNA (TERRA) reveals the formation of stable multimeric G-quadruplex structures. J. Am. Chem. Soc. 132, 9328–9334 (2010). (10.1021/ja100345z) / J. Am. Chem. Soc. by GW Collie (2010)
  26. Bochman, M. L., Paeschke, K. & Zakian, V. A. DNA secondary structures: stability and function of G-quadruplex structures. Nat. Rev. Genet. 13, 770–780 (2012). (10.1038/nrg3296) / Nat. Rev. Genet. by ML Bochman (2012)
  27. Ranum, L. P., Rasmussen, P. F., Benzow, K. A., Koob, M. D. & Day, J. W. Genetic mapping of a second myotonic dystrophy locus. Nat. Genet. 19, 196–198 (1998). (10.1038/570) / Nat. Genet. by LP Ranum (1998)
  28. Harley, H. G. et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355, 545–546 (1992). (10.1038/355545a0) / Nature by HG Harley (1992)
  29. Reddy, S. et al. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat. Genet. 13, 325–335 (1996). (10.1038/ng0796-325) / Nat. Genet. by S Reddy (1996)
  30. Chen, W. et al. Haploinsuffciency for Znf9 in Znf9+/− mice is associated with multiorgan abnormalities resembling myotonic dystrophy. J. Mol. Biol. 368, 8–17 (2007). (10.1016/j.jmb.2007.01.088) / J. Mol. Biol. by W Chen (2007)
  31. Lee, J. E. & Cooper, T. A. Pathogenic mechanisms of myotonic dystrophy. Biochem. Soc. Trans. 37, 1281–1286 (2009). (10.1042/BST0371281) / Biochem. Soc. Trans. by JE Lee (2009)
  32. Miller, J. W. et al. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J. 19, 4439–4448 (2000). (10.1093/emboj/19.17.4439) / EMBO J. by JW Miller (2000)
  33. Kanadia, R. N. et al. Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc. Natl. Acad. Sci. U.S.A. 103, 11748–11753 (2006). (10.1073/pnas.0604970103) / Proc. Natl. Acad. Sci. U.S.A. by RN Kanadia (2006)
  34. Lin, X. et al. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum. Mol. Genet. 15, 2087–2097 (2006). (10.1093/hmg/ddl132) / Hum. Mol. Genet. by X Lin (2006)
  35. Du, H. et al. Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy. Nat. Struct. Mol. Biol. 17, 187–193 (2010). (10.1038/nsmb.1720) / Nat. Struct. Mol. Biol. by H Du (2010)
  36. Yuan, Y. et al. Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs. Nucleic Acids Res. 35, 5474–5486 (2007). (10.1093/nar/gkm601) / Nucleic Acids Res. by Y Yuan (2007)
  37. Warf, M. B. & Berglund, J. A. MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T. RNA. 13, 2238–2251 (2007). (10.1261/rna.610607)
  38. Bugaut, A. & Balasubramanian, S. 5′-UTR RNA G-quadruplexes: translation regulation and targeting. Nucleic Acids Res. 40, 4727–4741 (2012). (10.1093/nar/gks068) / Nucleic Acids Res. by A Bugaut (2012)
  39. Melko, M. & Bardoni, B. The role of G-quadruplex in RNA metabolism: involvement of FMRP and FMR2P. Biochimie 92, 919–926 (2010). (10.1016/j.biochi.2010.05.018) / Biochimie by M Melko (2010)
  40. Beaudoin, J.-D. & Perreault, J.-P. 5′-UTR G-quadruplex structures acting as translational repressors. Nucleic Acids Res. 38, 7022–7036 (2010). (10.1093/nar/gkq557) / Nucleic Acids Res. by J-D Beaudoin (2010)
Dates
Type When
Created 12 years, 8 months ago (Dec. 21, 2012, 5:05 a.m.)
Deposited 2 years, 7 months ago (Jan. 5, 2023, 11:13 p.m.)
Indexed 3 weeks, 3 days ago (Aug. 7, 2025, 4:45 p.m.)
Issued 12 years, 8 months ago (Dec. 21, 2012)
Published 12 years, 8 months ago (Dec. 21, 2012)
Published Online 12 years, 8 months ago (Dec. 21, 2012)
Funders 0

None

@article{Fratta_2012, title={C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes}, volume={2}, ISSN={2045-2322}, url={http://dx.doi.org/10.1038/srep01016}, DOI={10.1038/srep01016}, number={1}, journal={Scientific Reports}, publisher={Springer Science and Business Media LLC}, author={Fratta, Pietro and Mizielinska, Sarah and Nicoll, Andrew J. and Zloh, Mire and Fisher, Elizabeth M. C. and Parkinson, Gary and Isaacs, Adrian M.}, year={2012}, month=dec }