Crossref
journal-article
Springer Science and Business Media LLC
Scientific Reports (297)
References
40
Referenced
291
-
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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
) -
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) -
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) -
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
) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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
) -
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) -
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) -
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) |
@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 }