메뉴 건너뛰기




Volumn 6, Issue SEP, 2013, Pages

RNA pathogenesis via Toll-like receptor-activated inflammation in expanded repeat neurodegenerative diseases

Author keywords

Expanded repeat diseases; Innate inflammation; Neuro degeneration; RNA pathogenesis; Toll like receptor

Indexed keywords

DICER; DOUBLE STRANDED RNA; FRAGILE X MENTAL RETARDATION PROTEIN; INTERLEUKIN 10; INTERLEUKIN 4; INTERLEUKIN 5; INTERLEUKIN 6; INTERLEUKIN 8; MESSENGER RNA; POLYGLUTAMINE; RIBONUCLEASE H; RNA; RNA BINDING PROTEIN; SINGLE STRANDED RNA; TOLL LIKE RECEPTOR; TOLL LIKE RECEPTOR 3; TUMOR NECROSIS FACTOR;

EID: 84885025223     PISSN: 16625099     EISSN: None     Source Type: Journal    
DOI: 10.3389/fnmol.2013.00025     Document Type: Article
Times cited : (10)

References (54)
  • 1
    • 84870572714 scopus 로고    scopus 로고
    • Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models
    • doi: 10.1038/ng.2434
    • Armakola, M., Higgins, M. J., Figley, M. D., Barmada, S. J., Scarborough, E. A., Diaz, Z., et al. (2012). Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models. Nat. Genet. 44, 1302-1309. doi: 10.1038/ng.2434
    • (2012) Nat. Genet. , vol.44 , pp. 1302-1309
    • Armakola, M.1    Higgins, M.J.2    Figley, M.D.3    Barmada, S.J.4    Scarborough, E.A.5    Diaz, Z.6
  • 2
    • 84874272095 scopus 로고    scopus 로고
    • Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
    • doi: 10.1016/j.neuron.2013.02.004
    • Ash, P. E., Bieniek, K. F., Gendron, T. F., Caulfield, T., Lin, W. L., Dejesus-Hernandez, M., et al. (2013). Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77, 1-8. doi: 10.1016/j.neuron.2013.02.004
    • (2013) Neuron , vol.77 , pp. 1-8
    • Ash, P.E.1    Bieniek, K.F.2    Gendron, T.F.3    Caulfield, T.4    Lin, W.L.5    Dejesus-Hernandez, M.6
  • 3
    • 0027377580 scopus 로고
    • FMR1 protein: Conserved RNP family domains and selective RNA-binding
    • doi: 10.1126/science.7692601
    • Ashley, C. T., Jr., Wilkinson, K. D., Reines, D., and Warren, S. T. (1993). FMR1 protein: conserved RNP family domains and selective RNA-binding. Science 262, 563-566. doi: 10.1126/science.7692601
    • (1993) Science , vol.262 , pp. 563-566
    • Ashley Jr., C.T.1    Wilkinson, K.D.2    Reines, D.3    Warren, S.T.4
  • 4
    • 84859179041 scopus 로고    scopus 로고
    • A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity
    • doi: 10.1371/journal.pgen.1002481
    • Bañez-Coronel, M., Porta, S., Kagerbauer, B., Mateu-Huertas, E., Pantano, L., Ferrer, I., et al. (2012). A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity. PLoS Genet. 8:e1002481. doi: 10.1371/journal.pgen.1002481
    • (2012) PLoS Genet. , vol.8
    • Bañez-Coronel, M.1    Porta, S.2    Kagerbauer, B.3    Mateu-Huertas, E.4    Pantano, L.5    Ferrer, I.6
  • 5
    • 77953887860 scopus 로고    scopus 로고
    • Partners in crime: Bidirectional transcription in unstable microsatellite disease
    • doi: 10.1093/hmg/ddq132
    • Batra, R., Charizanis, K., and Swanson, M. S. (2010). Partners in crime: bidirectional transcription in unstable microsatellite disease. Hum. Mol. Genet. 19, R77-R82. doi: 10.1093/hmg/ddq132
    • (2010) Hum. Mol. Genet. , vol.19
    • Batra, R.1    Charizanis, K.2    Swanson, M.S.3
  • 6
    • 49249089029 scopus 로고    scopus 로고
    • A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease
    • doi: 10.1084/jem.20080178
    • Björkqvist, M., Wild, E. J., Thiele, J., Silvestroni, A., Andre, R., Lahiri, N., et al. (2008). A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease. J. Exp. Med. 205, 1869-1877. doi: 10.1084/jem.20080178
    • (2008) J. Exp. Med. , vol.205 , pp. 1869-1877
    • Björkqvist, M.1    Wild, E.J.2    Thiele, J.3    Silvestroni, A.4    Andre, R.5    Lahiri, N.6
  • 7
    • 84879461541 scopus 로고    scopus 로고
    • Two is better than one: A case of homozygous myotonic dystrophy type 1
    • doi: 10.1002/ajmg.a.35967
    • Carroll, J. M., Quaid, K. A., Stone, K., Jones, R., Schubert, F., and Griffith, C. B. (2013). Two is better than one: a case of homozygous myotonic dystrophy type 1. Am. J. Med. Genet. 161, 1763-1767. doi: 10.1002/ajmg.a.35967
    • (2013) Am. J. Med. Genet. , vol.161 , pp. 1763-1767
    • Carroll, J.M.1    Quaid, K.A.2    Stone, K.3    Jones, R.4    Schubert, F.5    Griffith, C.B.6
  • 8
    • 84861969926 scopus 로고    scopus 로고
    • Insights into RNA biology from an atlas of mammalian mRNA-binding proteins
    • doi: 10.1016/j.cell.2012.04.031
    • Castello, A., Fischer, B., Eichelbaum, K., Horos, R., Beckmann, B. M., Strein, C., et al. (2012). Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. Cell 149, 1393-1406. doi: 10.1016/j.cell.2012.04.031
    • (2012) Cell , vol.149 , pp. 1393-1406
    • Castello, A.1    Fischer, B.2    Eichelbaum, K.3    Horos, R.4    Beckmann, B.M.5    Strein, C.6
  • 9
    • 79952619563 scopus 로고    scopus 로고
    • Toll-like receptor signaling in amyotrophic lateral sclerosis spinal cord tissue
    • doi: 10.1016/j.neuroscience.2011.02.001
    • Casula, M., Iyer, A. M., Spliet, W. G., Anink, J. J., Steentjes, K., Sta, M., et al. (2011). Toll-like receptor signaling in amyotrophic lateral sclerosis spinal cord tissue. Neuroscience 179, 233-243. doi: 10.1016/j.neuroscience.2011.02.001
    • (2011) Neuroscience , vol.179 , pp. 233-243
    • Casula, M.1    Iyer, A.M.2    Spliet, W.G.3    Anink, J.J.4    Steentjes, K.5    Sta, M.6
  • 10
    • 77950400643 scopus 로고    scopus 로고
    • Aicardi-Goutières syndrome and related phenotypes: Linking nucleic acid metabolism with autoimmunity
    • doi: 10.1093/hmg/ddp293
    • Crow, Y. J., and Rehwinkel, J. (2009). Aicardi-Goutières syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum. Mol. Genet. 18, R130-R136. doi: 10.1093/hmg/ddp293
    • (2009) Hum. Mol. Genet. , vol.18
    • Crow, Y.J.1    Rehwinkel, J.2
  • 11
    • 0035900649 scopus 로고    scopus 로고
    • Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function
    • doi: 10.1016/S0092-8674(01)00566-9
    • Darnell, J. C., Jensen, K. B., Jin, P., Brown, V., Warren, S. T., and Darnell, R. B. (2001). Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function. Cell 107, 489-499. doi: 10.1016/S0092-8674(01)00566-9
    • (2001) Cell , vol.107 , pp. 489-499
    • Darnell, J.C.1    Jensen, K.B.2    Jin, P.3    Brown, V.4    Warren, S.T.5    Darnell, R.B.6
  • 12
    • 0027509234 scopus 로고
    • A point mutation in the FMR-1 gene associated with fragile X mental retardation
    • doi: 10.1038/ng0193-31
    • De Boulle, K., Verkerk, A. J. M. H., Reyniers, E., Vits, L., Hendrickx, J., Van Roy, B., et al. (1993). A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat. Genet. 3, 31-35. doi: 10.1038/ng0193-31
    • (1993) Nat. Genet. , vol.3 , pp. 31-35
    • de Boulle, K.1    Verkerk, A.J.M.H.2    Reyniers, E.3    Vits, L.4    Hendrickx, J.5    van Roy, B.6
  • 13
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • doi: 10.1016/j.neuron.2011.09.011
    • DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., et al. (2011). Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245-256. doi: 10.1016/j.neuron.2011.09.011
    • (2011) Neuron , vol.72 , pp. 245-256
    • DeJesus-Hernandez, M.1    McKenzie, I.R.2    Boeve, B.F.3    Boxer, A.L.4    Baker, M.5    Rutherford, N.J.6
  • 14
    • 77956155218 scopus 로고    scopus 로고
    • Ataxin-2 intermediate-length poly-glutamine expansions are associated with increased risk for ALS
    • doi: 10.1038/nature09320
    • Elden, A. C., Kim, H. J., Hart, M. P., Chen-Plotkin, A. S., Johnson, B. S., Fang, X., et al. (2010). Ataxin-2 intermediate-length poly-glutamine expansions are associated with increased risk for ALS. Nature 466, 1069-1075. doi: 10.1038/nature09320
    • (2010) Nature , vol.466 , pp. 1069-1075
    • Elden, A.C.1    Kim, H.J.2    Hart, M.P.3    Chen-Plotkin, A.S.4    Johnson, B.S.5    Fang, X.6
  • 15
    • 84878552569 scopus 로고    scopus 로고
    • RNA toxicity in polyglutamine disorders: Concepts, models, and progress of research
    • doi: 10.1007/s00109-013-1016-2
    • Fiszer, A., and Krzyzosiak, W. J. (2013). RNA toxicity in polyglutamine disorders: concepts, models, and progress of research. J. Mol. Med. 91, 683-691. doi: 10.1007/s00109-013-1016-2
    • (2013) J. Mol. Med. , vol.91 , pp. 683-691
    • Fiszer, A.1    Krzyzosiak, W.J.2
  • 16
    • 80755181230 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous Bergmann glia degeneration
    • doi: 10.1523/JNEUROSCI.4000-11.2011
    • Furrer, S. A., Mohanachandran, M. S., Waldherr, S. M., Chang, C., Damian, V. A., Sopher, B. L., et al. (2011). Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous Bergmann glia degeneration. J. Neurosci. 31, 16269-16278. doi: 10.1523/JNEUROSCI.4000-11.2011
    • (2011) J. Neurosci. , vol.31 , pp. 16269-16278
    • Furrer, S.A.1    Mohanachandran, M.S.2    Waldherr, S.M.3    Chang, C.4    Damian, V.A.5    Sopher, B.L.6
  • 17
    • 74049164709 scopus 로고    scopus 로고
    • Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond
    • doi: 10.1083/jcb.200908164
    • Ilieva, H., Polymenidou, M., and Cleveland, D. W. (2009). Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond. J. Cell Biol. 187, 761-772. doi: 10.1083/jcb.200908164
    • (2009) J. Cell Biol. , vol.187 , pp. 761-772
    • Ilieva, H.1    Polymenidou, M.2    Cleveland, D.W.3
  • 18
    • 84870480784 scopus 로고    scopus 로고
    • GSK3β mediates muscle pathology in myotonic dystrophy
    • doi: 10.1172/JCI64081
    • Jones, K., Wei, C., Iakova, P., Bugiardini, E., Schneider-Gold, C., Meola, G., et al. (2012). GSK3β mediates muscle pathology in myotonic dystrophy. J. Clin. Invest. 122, 4461-4472. doi: 10.1172/JCI64081
    • (2012) J. Clin. Invest. , vol.122 , pp. 4461-4472
    • Jones, K.1    Wei, C.2    Iakova, P.3    Bugiardini, E.4    Schneider-Gold, C.5    Meola, G.6
  • 19
    • 80051549115 scopus 로고    scopus 로고
    • Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement
    • doi: 10.1016/j.ajhg.2011.05.015
    • Kobayashi, H., Abe, K., Matsuura, T., Ikeda, Y., Hitomi, T., Akechi, Y., et al. (2011). Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am. J. Hum. Genet. 89, 121-130. doi: 10.1016/j.ajhg.2011.05.015
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 121-130
    • Kobayashi, H.1    Abe, K.2    Matsuura, T.3    Ikeda, Y.4    Hitomi, T.5    Akechi, Y.6
  • 20
    • 0025800165 scopus 로고
    • DNA instability at the fragile X maps to a trinucleotide repeat sequence p(CCG)n
    • doi: 10.1126/science.1675488
    • Kremer, E., Pritchard, M., Lynch, M., Yu, S., Holman, K., Warren, S., et al. (1991). DNA instability at the fragile X maps to a trinucleotide repeat sequence p(CCG)n. Science 252, 1711-1714. doi: 10.1126/science.1675488
    • (1991) Science , vol.252 , pp. 1711-1714
    • Kremer, E.1    Pritchard, M.2    Lynch, M.3    Yu, S.4    Holman, K.5    Warren, S.6
  • 21
    • 77949775195 scopus 로고    scopus 로고
    • Repeat expansion disease: Progress and puzzles in disease pathogenesis
    • doi: 10.1038/nrg2748
    • La Spada, A. R., and Taylor, J. P. (2010). Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat. Rev. Genet. 11, 247-258. doi: 10.1038/nrg2748
    • (2010) Nat. Rev. Genet. , vol.11 , pp. 247-258
    • la Spada, A.R.1    Taylor, J.P.2
  • 22
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • doi: 10.1038/352077a0
    • La Spada, A. R., Wilson, E. M., Lubahn, D. B., Harding, A. E., and Fischbeck, K. H. (1991). Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77-79. doi: 10.1038/352077a0
    • (1991) Nature , vol.352 , pp. 77-79
    • la Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 23
    • 80052762993 scopus 로고    scopus 로고
    • Double stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases
    • doi: 10.1093/hmg/ddr292
    • Lawlor, K. T., O'Keefe, L. V., Samaraweera, S., van Eyk, C., McLeod, C. J., Maloney, C., et al. (2011). Double stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases. Hum. Mol. Genet. 20, 3757-3768. doi: 10.1093/hmg/ddr292
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 3757-3768
    • Lawlor, K.T.1    O'Keefe, L.V.2    Samaraweera, S.3    van Eyk, C.4    McLeod, C.J.5    Maloney, C.6
  • 24
    • 84862023505 scopus 로고    scopus 로고
    • Ubiquitous expression of CUG or CAG trinucleotide repeat RNA causes common morphological defects in a Drosophila model of RNA-mediated pathology
    • doi: 10.1371/journal.pone.0038516
    • Lawlor, K. T., O'Keefe, L. V., Samaraweera, S. E., van Eyk, C. L., and Richards, R. I. (2012). Ubiquitous expression of CUG or CAG trinucleotide repeat RNA causes common morphological defects in a Drosophila model of RNA-mediated pathology. PLoS ONE 7:e38516. doi: 10.1371/journal.pone.0038516
    • (2012) PLoS ONE , vol.7
    • Lawlor, K.T.1    O'Keefe, L.V.2    Samaraweera, S.E.3    van Eyk, C.L.4    Richards, R.I.5
  • 25
    • 45749147456 scopus 로고    scopus 로고
    • RNA toxicity is a component of ataxin-3 degeneration in Drosophila
    • doi: 10.1038/nature06909
    • Li, L.-B., Yu, Z., Teng, X., and Bonini, N. M. (2008). RNA toxicity is a component of ataxin-3 degeneration in Drosophila. Nature 453, 1107-1111. doi: 10.1038/nature06909
    • (2008) Nature , vol.453 , pp. 1107-1111
    • Li, L.-B.1    Yu, Z.2    Teng, X.3    Bonini, N.M.4
  • 26
    • 0036347525 scopus 로고    scopus 로고
    • Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
    • doi: 10.1016/S1097-2765(02)00563-4
    • Mankodi, A., Takahashi, M. P., Jiang, H., Beck, C. L., Bowers, W. J., Moxley, R. T., et al. (2002). Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol. Cell 10, 35-44. doi: 10.1016/S1097-2765(02)00563-4
    • (2002) Mol. Cell , vol.10 , pp. 35-44
    • Mankodi, A.1    Takahashi, M.P.2    Jiang, H.3    Beck, C.L.4    Bowers, W.J.5    Moxley, R.T.6
  • 27
    • 17744363882 scopus 로고    scopus 로고
    • The pathogenic agent inDrosophila models of 'polyglutamine' diseases
    • doi: 10.1093/hmg/ddi096
    • McLeod, C., O'Keefe, L., and Richards, R. I. (2005). The pathogenic agent inDrosophila models of 'polyglutamine' diseases. Hum. Mol. Genet. 14, 1041-1048. doi: 10.1093/hmg/ddi096
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 1041-1048
    • McLeod, C.1    O'Keefe, L.2    Richards, R.I.3
  • 28
    • 33645747484 scopus 로고    scopus 로고
    • Elevated IL-6 and TNF-alpha levels in patients with ALS: Inflammation or hypoxia?
    • doi: 10.1212/01.wnl.0000188907.97339.76
    • Moreau, C., Devos, D., Brunaud-Danel, V., Defebvre, L., Perez, T., Destée, A., et al. (2005). Elevated IL-6 and TNF-alpha levels in patients with ALS: inflammation or hypoxia? Neurology 65, 1958-1960. doi: 10.1212/01.wnl.0000188907.97339.76
    • (2005) Neurology , vol.65 , pp. 1958-1960
    • Moreau, C.1    Devos, D.2    Brunaud-Danel, V.3    Defebvre, L.4    Perez, T.5    Destée, A.6
  • 29
    • 84874962380 scopus 로고    scopus 로고
    • The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
    • doi: 10.1126/science.1232927
    • Mori, K., Weng, S. M., Arzberger, T., May, S., Rentzsch, K., Kremmer, E., et al. (2013). The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 339, 1335-1338. doi: 10.1126/science.1232927
    • (2013) Science , vol.339 , pp. 1335-1338
    • Mori, K.1    Weng, S.M.2    Arzberger, T.3    May, S.4    Rentzsch, K.5    Kremmer, E.6
  • 30
    • 80054842185 scopus 로고    scopus 로고
    • FTD and ALS: Genetic ties that bind
    • doi: 10.1016/j.neuron.2011.10.001
    • Orr, H. T. (2011). FTD and ALS: genetic ties that bind. Neuron 72, 189-190. doi: 10.1016/j.neuron.2011.10.001
    • (2011) Neuron , vol.72 , pp. 189-190
    • Orr, H.T.1
  • 31
    • 84875530060 scopus 로고    scopus 로고
    • N6-methyl-adenosine modification in messenger and long non-coding RNA
    • doi: 10.1016/j.tibs.2012.12.006
    • Pan, T. (2013). N6-methyl-adenosine modification in messenger and long non-coding RNA. Trends Biochem. Sci. 38, 204-209. doi: 10.1016/j.tibs.2012.12.006
    • (2013) Trends Biochem. Sci. , vol.38 , pp. 204-209
    • Pan, T.1
  • 32
    • 0025833298 scopus 로고
    • Absence of expression of the FMR-1 gene in fragile X syndrome
    • doi: 10.1016/0092-8674(91)90125-I
    • Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., et al. (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66, 817-822. doi: 10.1016/0092-8674(91)90125-I
    • (1991) Cell , vol.66 , pp. 817-822
    • Pieretti, M.1    Zhang, F.2    Fu, Y.-H.3    Warren, S.T.4    Oostra, B.A.5    Caskey, C.T.6
  • 33
    • 80155157847 scopus 로고    scopus 로고
    • The seeds of neurodegeneration: Prion-like spreading in ALS
    • doi: 10.1016/j.cell.2011.10.011
    • Polymenidou, M., and Cleveland, D. W. (2011). The seeds of neurodegeneration: prion-like spreading in ALS. Cell 147, 498-508. doi: 10.1016/j.cell.2011.10.011
    • (2011) Cell , vol.147 , pp. 498-508
    • Polymenidou, M.1    Cleveland, D.W.2
  • 34
    • 2342461060 scopus 로고    scopus 로고
    • Myotonic dystrophy: RNA pathogenesis comes into focus
    • doi: 10.1086/383590
    • Ranum, L. P., and Day, J. W. (2004). Myotonic dystrophy: RNA pathogenesis comes into focus. Am. J. Hum. Genet. 74, 793-804. doi: 10.1086/383590
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 793-804
    • Ranum, L.P.1    Day, J.W.2
  • 35
    • 84880427394 scopus 로고    scopus 로고
    • A compendium of RNA-binding motifs for decoding gene regulation
    • doi: 10.1038/nature12311
    • Ray, D., Kazan, H., Cook, K. B., Weirauch, M. T., Najafabadi, H. S., Li, X., et al. (2013). A compendium of RNA-binding motifs for decoding gene regulation. Nature 499, 172-177. doi: 10.1038/nature12311
    • (2013) Nature , vol.499 , pp. 172-177
    • Ray, D.1    Kazan, H.2    Cook, K.B.3    Weirauch, M.T.4    Najafabadi, H.S.5    Li, X.6
  • 36
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    • doi: 10.1016/j.neuron.2011.09.010
    • Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., et al. (2011). A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257-268. doi: 10.1016/j.neuron.2011.09.010
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3    Simón-Sánchez, J.4    Rollinson, S.5    Gibbs, J.R.6
  • 37
    • 0035475642 scopus 로고    scopus 로고
    • Dynamic mutations: A decade of unstable expanded repeats in human disease
    • doi: 10.1093/hmg/10.20.2187
    • Richards, R. I. (2001). Dynamic mutations: a decade of unstable expanded repeats in human disease Hum. Mol. Genet. 10, 2187-2194. doi: 10.1093/hmg/10.20.2187
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2187-2194
    • Richards, R.I.1
  • 38
    • 0026767610 scopus 로고
    • Dynamic mutations: A new class of mutations causing human disease
    • doi: 10.1016/0092-8674(92)90302-S
    • Richards R. I., and Sutherland, G. R. (1992). Dynamic mutations: a new class of mutations causing human disease. Cell 70, 709-712. doi: 10.1016/0092-8674(92)90302-S
    • (1992) Cell , vol.70 , pp. 709-712
    • Richards, R.I.1    Sutherland, G.R.2
  • 39
    • 52949094629 scopus 로고    scopus 로고
    • Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis
    • doi: 10.1371/journal.pgen.1000193
    • Rutherford, N. J., Zhang, Y. J., Baker, M., Gass, J. M., Finch, N. A., Xu, Y. F., et al. (2008). Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet. 4:e1000193. doi: 10.1371/journal.pgen.1000193
    • (2008) PLoS Genet. , vol.4
    • Rutherford, N.J.1    Zhang, Y.J.2    Baker, M.3    Gass, J.M.4    Finch, N.A.5    Xu, Y.F.6
  • 40
    • 84880308992 scopus 로고    scopus 로고
    • Distinct roles for Toll and autophagy pathways in double-stranded RNA toxicity in a Drosophila model of expanded repeat neurodegenerative diseases
    • doi: 10.1093/hmg/ddt130
    • Samaraweera, S. E., O'Keefe, L. V., Price, G. R., Venter, D. J., and Richards, R. I. (2013). Distinct roles for Toll and autophagy pathways in double-stranded RNA toxicity in a Drosophila model of expanded repeat neurodegenerative diseases. Hum. Mol. Genet. 22, 2811-2819. doi: 10.1093/hmg/ddt130
    • (2013) Hum. Mol. Genet. , vol.22 , pp. 2811-2819
    • Samaraweera, S.E.1    O'Keefe, L.V.2    Price, G.R.3    Venter, D.J.4    Richards, R.I.5
  • 41
    • 71849083831 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n
    • doi: 10.1016/j.ajhg.2009.09.019
    • Sato, N., Amino, T., Kobayashi, K., Asakawa, S., Ishiguro, T., Tsunemi, T., et al. (2009). Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am. J. Hum. Genet. 85, 544-557. doi: 10.1016/j.ajhg.2009.09.019
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 544-557
    • Sato, N.1    Amino, T.2    Kobayashi, K.3    Asakawa, S.4    Ishiguro, T.5    Tsunemi, T.6
  • 42
    • 84880174102 scopus 로고    scopus 로고
    • Innate immunity and neuroinflammation
    • doi: 10.1155/2013/342931
    • Shastri, A., Bonfati, D. M., and Kishore, U. (2013). Innate immunity and neuroinflammation. Mediators Inflamm. 2013, 342931. doi: 10.1155/2013/342931
    • (2013) Mediators Inflamm. , vol.2013 , pp. 342931
    • Shastri, A.1    Bonfati, D.M.2    Kishore, U.3
  • 43
    • 79952618146 scopus 로고    scopus 로고
    • Innate and adaptive immunity in amyotrophic lateral sclerosis: Evidence of complement activation
    • doi: 10.1016/j.nbd.2011.01.002
    • Sta, M., Sylva-Steenland, R. M., Casula, M., de Jong, J. M., Troost, D., Aronica, E., et al. (2011). Innate and adaptive immunity in amyotrophic lateral sclerosis: evidence of complement activation. Neurobiol. Dis. 42, 211-220. doi: 10.1016/j.nbd.2011.01.002
    • (2011) Neurobiol. Dis. , vol.42 , pp. 211-220
    • Sta, M.1    Sylva-Steenland, R.M.2    Casula, M.3    de Jong, J.M.4    Troost, D.5    Aronica, E.6
  • 44
    • 68049113685 scopus 로고    scopus 로고
    • Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset
    • doi: 10.1093/hmg/ddp242
    • Swami, M., Hendricks, A. E., Gillis, T., Massood, T., Mysore, J., Myers, R. H., et al. (2009). Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset. Hum. Mol. Genet. 18, 3039-3047. doi: 10.1093/hmg/ddp242
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 3039-3047
    • Swami, M.1    Hendricks, A.E.2    Gillis, T.3    Massood, T.4    Mysore, J.5    Myers, R.H.6
  • 45
    • 84877331220 scopus 로고    scopus 로고
    • CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome
    • doi: 10.1016/j.neuron.2013.03.026
    • Todd, P. K., Oh, S. Y., Krans, A., He, F., Sellier, C., Frazer, M., et al. (2013). CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. Neuron 78, 440-455. doi: 10.1016/j.neuron.2013.03.026
    • (2013) Neuron , vol.78 , pp. 440-455
    • Todd, P.K.1    Oh, S.Y.2    Krans, A.3    He, F.4    Sellier, C.5    Frazer, M.6
  • 46
    • 84856097529 scopus 로고    scopus 로고
    • Comparative Toxicity of polyglutamine, polyalanine and polyleucine tracts in Drosophila models of expanded repeat disease
    • doi: 10.1093/hmg/ddr487
    • van Eyk, C., McLeod, C. J., O'Keefe, L. V., and Richards, R. I. (2012). Comparative Toxicity of polyglutamine, polyalanine and polyleucine tracts in Drosophila models of expanded repeat disease. Hum. Mol. Genet. 21, 536-547. doi: 10.1093/hmg/ddr487
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 536-547
    • van Eyk, C.1    McLeod, C.J.2    O'Keefe, L.V.3    Richards, R.I.4
  • 47
    • 79959781166 scopus 로고    scopus 로고
    • Perturbation of the Akt/Gsk3-β signalling pathway is common toDrosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs
    • doi: 10.1093/hmg/ddr177
    • van Eyk, C. L., O'Keefe, L. V., Lawlor, K. T., Samaraweera, S. E., McLeod, C. J., Price, G. R., et al. (2011). Perturbation of the Akt/Gsk3-β signalling pathway is common toDrosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs. Hum. Mol. Genet. 20, 2783-2794. doi: 10.1093/hmg/ddr177
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 2783-2794
    • van Eyk, C.L.1    O'Keefe, L.V.2    Lawlor, K.T.3    Samaraweera, S.E.4    McLeod, C.J.5    Price, G.R.6
  • 49
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • doi: 10.1016/0092-8674(91)90397-H
    • Verkerk, A. J., Pieretti, M., Sutcliffe, J. S., Fu, Y. H., Kuhl, D. P., Pizzuti, A., et al. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905-914. doi: 10.1016/0092-8674(91)90397-H
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.P.5    Pizzuti, A.6
  • 50
    • 77958536106 scopus 로고    scopus 로고
    • Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA
    • doi: 10.1016/j.stem.2010.08.012
    • Warren, L., Manos, P. D., Ahfeldt, T., Loh, Y. H., Li, H., Lau, F., et al. (2007). Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA. Cell Stem Cell 7, 618-630. doi: 10.1016/j.stem.2010.08.012
    • (2007) Cell Stem Cell , vol.7 , pp. 618-630
    • Warren, L.1    Manos, P.D.2    Ahfeldt, T.3    Loh, Y.H.4    Li, H.5    Lau, F.6
  • 51
    • 84855975733 scopus 로고    scopus 로고
    • Abnormal peripheral chemokine profile in Huntington's disease
    • doi: 10.1371/currents.RRN1231
    • Wild, E., Magnussen, A., Lahiri, N., Krus, U., Orth, M., Tabrizi, S. J., et al. (2011). Abnormal peripheral chemokine profile in Huntington's disease. PLoS Curr. 3:RRN1231. doi: 10.1371/currents.RRN1231
    • (2011) PLoS Curr. , vol.3
    • Wild, E.1    Magnussen, A.2    Lahiri, N.3    Krus, U.4    Orth, M.5    Tabrizi, S.J.6
  • 52
    • 0026347628 scopus 로고
    • The fragile X genotype is characterized by an unstable region of DNA
    • doi: 10.1126/science.252.5009.1179
    • Yu, S., Kremer, E., Pritchard, M., Lynch, M., Nancarrow, J., Baker, E., et al. (1991). The fragile X genotype is characterized by an unstable region of DNA. Science 252, 1179-1182. doi: 10.1126/science.252.5009.1179
    • (1991) Science , vol.252 , pp. 1179-1182
    • Yu, S.1    Kremer, E.2    Pritchard, M.3    Lynch, M.4    Nancarrow, J.5    Baker, E.6
  • 53
    • 79953762028 scopus 로고    scopus 로고
    • Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy
    • doi: 10.1371/journal.pgen.1001340
    • Yu, Z., Teng, X., and Bonini, N. M. (2011). Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy. PLoS Genet. 7:e1001340. doi: 10.1371/journal.pgen.1001340
    • (2011) PLoS Genet. , vol.7
    • Yu, Z.1    Teng, X.2    Bonini, N.M.3
  • 54
    • 78651105614 scopus 로고    scopus 로고
    • Non-ATG-initiated translation directed by microsatellite expansions
    • doi: 10.1073/pnas.1013343108
    • Zu, T., Gibbens, B., Doty, N. S., Gomes-Pereira, M., Huguet, A., Stone, M. D., et al. (2011). Non-ATG-initiated translation directed by microsatellite expansions. Proc. Natl. Acad. Sci. U.S.A. 108, 260-265. doi: 10.1073/pnas.1013343108
    • (2011) Proc. Natl. Acad. Sci. U.S.A. , vol.108 , pp. 260-265
    • Zu, T.1    Gibbens, B.2    Doty, N.S.3    Gomes-Pereira, M.4    Huguet, A.5    Stone, M.D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.