Mechanisms of toxicity in C9FTLD/ALS
10.1007/s00401-013-1237-z
Crossref journal-article
Springer Science and Business Media LLC
Acta Neuropathologica (297)
Bibliography

Gendron, T. F., Belzil, V. V., Zhang, Y.-J., & Petrucelli, L. (2014). Mechanisms of toxicity in C9FTLD/ALS. Acta Neuropathologica, 127(3), 359–376.

Authors 4
  1. Tania F. Gendron (first)
  2. Veronique V. Belzil (additional)
  3. Yong-Jie Zhang (additional)
  4. Leonard Petrucelli (additional)
References 110 Referenced 125
  1. Aitken CE, Lorsch JR (2012) A mechanistic overview of translation initiation in eukaryotes. Nat Struct Mol Biol 19(6):568–576. doi: 10.1038/nsmb.2303 (10.1038/nsmb.2303) / Nat Struct Mol Biol by CE Aitken (2012)
  2. Al-Mahdawi S, Pinto RM, Ismail O, Varshney D, Lymperi S, Sandi C, Trabzuni D, Pook M (2008) The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum Mol Genet 17(5):735–746. doi: 10.1093/hmg/ddm346 (10.1093/hmg/ddm346) / Hum Mol Genet by S Al-Mahdawi (2008)
  3. 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(6):691–702. doi: 10.1007/s00401-011-0911-2 (10.1007/s00401-011-0911-2) / Acta Neuropathol by S Al-Sarraj (2011)
  4. Almeida S, Gascon E, Tran H, Chou HJ, Gendron TF, Degroot S, Tapper AR, Sellier C, Charlet-Berguerand N, Karydas A, Seeley WW, Boxer AL, Petrucelli L, Miller BL, Gao FB (2013) Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta Neuropathol 126(3):385–399. doi: 10.1007/s00401-013-1149-y (10.1007/s00401-013-1149-y) / Acta Neuropathol by S Almeida (2013)
  5. Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L (2013) Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77(4):639–646. doi: 10.1016/j.neuron.2013.02.004 (10.1016/j.neuron.2013.02.004) / Neuron by PE Ash (2013)
  6. Azzedine H, Bolino A, Taieb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E (2003) Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet 72(5):1141–1153. doi: 10.1086/375034 (10.1086/375034) / Am J Hum Genet by H Azzedine (2003)
  7. Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M (2006) Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442(7105):916–919. doi: 10.1038/nature05016 (10.1038/nature05016) / Nature by M Baker (2006)
  8. Batra R, Charizanis K, Swanson MS (2010) Partners in crime: bidirectional transcription in unstable microsatellite disease. Hum Mol Genet 19(R1):R77–R82. doi: 10.1093/hmg/ddq132 (10.1093/hmg/ddq132) / Hum Mol Genet by R Batra (2010)
  9. Belzil VV, Bauer PO, Prudencio M, Gendron TF, Stetler CT, Yan IK, Pregent L, Daughrity L, Baker MC, Rademakers R, Boylan K, Patel TC, Dickson DW, Petrucelli L (2013) Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathol 126(6):895–905. doi: 10.1007/s00401-013-1199-1 (10.1007/s00401-013-1199-1) / Acta Neuropathol by VV Belzil (2013)
  10. Belzil VV, Gendron TF, Petrucelli L (2012) RNA-mediated toxicity in neurodegenerative disease. Mol Cell Neurosci 56:406–419. doi: 10.1016/j.mcn.2012.12.006 (10.1016/j.mcn.2012.12.006) / Mol Cell Neurosci by VV Belzil (2012)
  11. Bento CF, Puri C, Moreau K, Rubinsztein DC (2013) The role of membrane-trafficking small GTPases in the regulation of autophagy. J Cell Sci 126(Pt 5):1059–1069. doi: 10.1242/jcs.123075 (10.1242/jcs.123075) / J Cell Sci by CF Bento (2013)
  12. Bieniek KF, Murray ME, Rutherford NJ, Castanedes-Casey M, DeJesus-Hernandez M, Liesinger AM, Baker MC, Boylan KB, Rademakers R, Dickson DW (2013) Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion. Acta Neuropathol 125(2):289–302. doi: 10.1007/s00401-012-1048-7 (10.1007/s00401-012-1048-7) / Acta Neuropathol by KF Bieniek (2013)
  13. Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, Vemuri P, Jones D, Lowe V, Murray ME, Dickson DW, Josephs KA, Rush BK, Machulda MM, Fields JA, Ferman TJ, Baker M, Rutherford NJ, Adamson J, Wszolek ZK, Adeli A, Savica R, Boot B, Kuntz KM, Gavrilova R, Reeves A, Whitwell J, Kantarci K, Jack CR Jr, Parisi JE, Lucas JA, Petersen RC, Rademakers R (2012) Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 135(Pt 3):765–783. doi: 10.1093/brain/aws004 (10.1093/brain/aws004) / Brain by BF Boeve (2012)
  14. Brettschneider J, Van Deerlin VM, Robinson JL, Kwong L, Lee EB, Ali YO, Safren N, Monteiro MJ, Toledo JB, Elman L, McCluskey L, Irwin DJ, Grossman M, Molina-Porcel L, Lee VM, Trojanowski JQ (2012) Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion. Acta Neuropathol 123(6):825–839. doi: 10.1007/s00401-012-0970-z (10.1007/s00401-012-0970-z) / Acta Neuropathol by J Brettschneider (2012)
  15. Buratti E, Brindisi A, Giombi M, Tisminetzky S, Ayala YM, Baralle FE (2005) TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. J Biol Chem 280(45):37572–37584. doi: 10.1074/jbc.M505557200 (10.1074/jbc.M505557200) / J Biol Chem by E Buratti (2005)
  16. Carrasquillo MM, Nicholson AM, Finch N, Gibbs JR, Baker M, Rutherford NJ, Hunter TA, DeJesus-Hernandez M, Bisceglio GD, Mackenzie IR, Singleton A, Cookson MR, Crook JE, Dillman A, Hernandez D, Petersen RC, Graff-Radford NR, Younkin SG, Rademakers R (2010) Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. Am J Hum Genet 87(6):890–897. doi: 10.1016/j.ajhg.2010.11.002 (10.1016/j.ajhg.2010.11.002) / Am J Hum Genet by MM Carrasquillo (2010)
  17. Castaldo I, Pinelli M, Monticelli A, Acquaviva F, Giacchetti M, Filla A, Sacchetti S, Keller S, Avvedimento VE, Chiariotti L, Cocozza S (2008) DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients. J Med Genet 45(12):808–812. doi: 10.1136/jmg.2008.058594 (10.1136/jmg.2008.058594) / J Med Genet by I Castaldo (2008)
  18. Chen IC, Lin HY, Lee GC, Kao SH, Chen CM, Wu YR, Hsieh-Li HM, Su MT, Lee-Chen GJ (2009) Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci. BMC Mol Biol 10:9. doi: 10.1186/1471-2199-10-9 (10.1186/1471-2199-10-9) / BMC Mol Biol by IC Chen (2009)
  19. Chen S, Zhang X, Song L, Le W (2012) Autophagy dysregulation in amyotrophic lateral sclerosis. Brain Pathol 22(1):110–116. doi: 10.1111/j.1750-3639.2011.00546.x (10.1111/j.1750-3639.2011.00546.x) / Brain Pathol by S Chen (2012)
  20. 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(46):16619–16636. doi: 10.1523/JNEUROSCI.1639-11.2011 (10.1523/JNEUROSCI.1639-11.2011) / J Neurosci by BA Chestnut (2011)
  21. Childs-Disney JL, Hoskins J, Rzuczek SG, Thornton CA, Disney MD (2012) Rationally designed small molecules targeting the RNA that causes myotonic dystrophy type 1 are potently bioactive. ACS Chem Biol 7(5):856–862. doi: 10.1021/cb200408a (10.1021/cb200408a) / ACS Chem Biol by JL Childs-Disney (2012)
  22. Cho DH, Thienes CP, Mahoney SE, Analau E, Filippova GN, Tapscott SJ (2005) Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF. Mol Cell 20(3):483–489. doi: 10.1016/j.molcel.2005.09.002 (10.1016/j.molcel.2005.09.002) / Mol Cell by DH Cho (2005)
  23. Chung DW, Rudnicki DD, Yu L, Margolis RL (2011) A natural antisense transcript at the Huntington’s disease repeat locus regulates HTT expression. Hum Mol Genet 20(17):3467–3477. doi: 10.1093/hmg/ddr263 (10.1093/hmg/ddr263) / Hum Mol Genet by DW Chung (2011)
  24. Ciura S, Lattante S, Le Ber I, 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. doi: 10.1002/ana.23946 / Ann Neurol by S Ciura (2013)
  25. Cleary JD, Ranum LP (2013) Repeat-associated non-ATG (RAN) translation in neurological disease. Hum Mol Genet 22(R1):R45–R51. doi: 10.1093/hmg/ddt371 (10.1093/hmg/ddt371) / Hum Mol Genet by JD Cleary (2013)
  26. Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, Baxter L, Forster G, Fox M, Bury J, Mok K, McDermott CJ, Traynor BJ, Kirby J, Wharton SB, Ince PG, Hardy J, Shaw PJ (2012) Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 135(Pt 3):751–764. doi: 10.1093/brain/awr365 (10.1093/brain/awr365) / Brain by J Cooper-Knock (2012)
  27. Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, Mattheijssens M, Van den Broeck M, Cuijt I, Vennekens K, De Deyn PP, Kumar-Singh S, Van Broeckhoven C (2006) Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442(7105):920–924. doi: 10.1038/nature05017 (10.1038/nature05017) / Nature by M Cruts (2006)
  28. Dansithong W, Paul S, Comai L, Reddy S (2005) MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. J Biol Chem 280(7):5773–5780. doi: 10.1074/jbc.M410781200 (10.1074/jbc.M410781200) / J Biol Chem by W Dansithong (2005)
  29. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72(2):245–256. doi: 10.1016/j.neuron.2011.09.011 (10.1016/j.neuron.2011.09.011) / Neuron by M DeJesus-Hernandez (2011)
  30. Del Villar K, Miller CA (2004) Down-regulation of DENN/MADD, a TNF receptor binding protein, correlates with neuronal cell death in Alzheimer’s disease brain and hippocampal neurons. Proc Natl Acad Sci USA 101(12):4210–4215. doi: 10.1073/pnas.0307349101 (10.1073/pnas.0307349101) / Proc Natl Acad Sci USA by K Villar Del (2004)
  31. Disney MD, Liu B, Yang WY, Sellier C, Tran T, Charlet-Berguerand N, Childs-Disney JL (2012) A small molecule that targets r(CGG)(exp) and improves defects in fragile X-associated tremor ataxia syndrome. ACS Chem Biol 7(10):1711–1718. doi: 10.1021/cb300135h (10.1021/cb300135h) / ACS Chem Biol by MD Disney (2012)
  32. Donnelly CJ, Zhang PW, Pham JT, Heusler AR, Mistry NA, Vidensky S, Daley EL, Poth EM, Hoover B, Fines DM, Maragakis N, Tienari PJ, Petrucelli L, Traynor BJ, Wang J, Rigo F, Bennett CF, Blackshaw S, Sattler R, Rothstein JD (2013) RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 80(2):415–428. doi: 10.1016/j.neuron.2013.10.015 (10.1016/j.neuron.2013.10.015) / Neuron by CJ Donnelly (2013)
  33. Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD (2002) Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum Mol Genet 11(7):805–814 (10.1093/hmg/11.7.805) / Hum Mol Genet by M Fardaei (2002)
  34. Filippova GN, Thienes CP, Penn BH, Cho DH, Hu YJ, Moore JM, Klesert TR, Lobanenkov VV, Tapscott SJ (2001) CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus. Nat Genet 28(4):335–343. doi: 10.1038/ng570 (10.1038/ng570) / Nat Genet by GN Filippova (2001)
  35. Fratta P, Mizielinska S, Nicoll AJ, Zloh M, Fisher EM, Parkinson G, Isaacs AM (2012) C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep 2:1016. doi: 10.1038/srep01016 (10.1038/srep01016) / Sci Rep by P Fratta (2012)
  36. Fratta P, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, Lai MC, Gendron TF, Petrucelli L, Fisher EM, Revesz T, Warren JD, Collinge J, Isaacs AM, Mead S (2013) Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathol 126(3):401–409. doi: 10.1007/s00401-013-1147-0 (10.1007/s00401-013-1147-0) / Acta Neuropathol by P Fratta (2013)
  37. Gendron TF, Bieniek KF, Zhang YJ, Jansen-West K, Ash PE, Caulfield T, Daughrity L, Dunmore JH, Castanedes-Casey M, Chew J, Cosio DM, van Blitterswijk M, Lee WC, Rademakers R, Boylan KB, Dickson DW, Petrucelli L (2013) Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol 126(6):829–844. doi: 10.1007/s00401-013-1192-8 (10.1007/s00401-013-1192-8) / Acta Neuropathol by TF Gendron (2013)
  38. Gendron TF, Petrucelli L (2009) The role of tau in neurodegeneration. Mol Neurodegener 4:13. doi: 10.1186/1750-1326-4-13 (10.1186/1750-1326-4-13) / Mol Neurodegener by TF Gendron (2009)
  39. Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, Engelborghs S, Sieben A, De Jonghe P, Vandenberghe R, Santens P, De Bleecker J, Maes G, Baumer V, Dillen L, Joris G, Cuijt I, Corsmit E, Elinck E, Van Dongen J, Vermeulen S, Van den Broeck M, Vaerenberg C, Mattheijssens M, Peeters K, Robberecht W, Cras P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C (2012) 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(1):54–65. doi: 10.1016/S1474-4422(11)70261-7 (10.1016/S1474-4422(11)70261-7) / Lancet Neurol by I Gijselinck (2012)
  40. Giordana MT, Ferrero P, Grifoni S, Pellerino A, Naldi A, Montuschi A (2011) Dementia and cognitive impairment in amyotrophic lateral sclerosis: a review. Neurol Sci 32(1):9–16. doi: 10.1007/s10072-010-0439-6 (10.1007/s10072-010-0439-6) / Neurol Sci by MT Giordana (2011)
  41. Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, Hatanpaa KJ, White CL 3rd, Bigio EH, Caselli R, Baker M, Al-Lozi MT, Morris JC, Pestronk A, Rademakers R, Goate AM, Cairns NJ (2008) TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 63(4):535–538 (10.1002/ana.21344) / Ann Neurol by MA Gitcho (2008)
  42. Graff-Radford NR, Woodruff BK (2007) Frontotemporal dementia. Semin Neurol 27(1):48–57. doi: 10.1055/s-2006-956755 (10.1055/s-2006-956755) / Semin Neurol by NR Graff-Radford (2007)
  43. Hadano S, Otomo A, Kunita R, Suzuki-Utsunomiya K, Akatsuka A, Koike M, Aoki M, Uchiyama Y, Itoyama Y, Ikeda JE (2010) Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking. PLoS One 5(3):e9805. doi: 10.1371/journal.pone.0009805 (10.1371/journal.pone.0009805) / PLoS One by S Hadano (2010)
  44. Harris H, Rubinsztein DC (2012) Control of autophagy as a therapy for neurodegenerative disease. Nat Rev Neurol 8(2):108–117. doi: 10.1038/nrneurol.2011.200 (10.1038/nrneurol.2011.200) / Nat Rev Neurol by H Harris (2012)
  45. He F, Todd PK (2011) Epigenetics in nucleotide repeat expansion disorders. Semin Neurol 31(5):470–483. doi: 10.1055/s-0031-1299786 (10.1055/s-0031-1299786) / Semin Neurol by F He (2011)
  46. Hsiung GY, Dejesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, Butler R, Leung B, Fok A, Rutherford NJ, Baker M, Rademakers R, Mackenzie IR (2012) Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain 135(Pt 3):709–722. doi: 10.1093/brain/awr354 (10.1093/brain/awr354) / Brain by GY Hsiung (2012)
  47. Hu F, Padukkavidana T, Vaegter CB, Brady OA, Zheng Y, Mackenzie IR, Feldman HH, Nykjaer A, Strittmatter SM (2010) Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin. Neuron 68(4):654–667. doi: 10.1016/j.neuron.2010.09.034 (10.1016/j.neuron.2010.09.034) / Neuron by F Hu (2010)
  48. Hutagalung AH, Novick PJ (2011) Role of Rab GTPases in membrane traffic and cell physiology. Physiol Rev 91(1):119–149. doi: 10.1152/physrev.00059.2009 (10.1152/physrev.00059.2009) / Physiol Rev by AH Hutagalung (2011)
  49. Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA (2004) Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet 13(24):3079–3088. doi: 10.1093/hmg/ddh327 (10.1093/hmg/ddh327) / Hum Mol Genet by H Jiang (2004)
  50. Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP (2013) Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 495(7442):467–473. doi: 10.1038/nature11922 (10.1038/nature11922) / Nature by HJ Kim (2013)
  51. Klose RJ, Bird AP (2006) Genomic DNA methylation: the mark and its mediators. Trends Biochem Sci 31(2):89–97. doi: 10.1016/j.tibs.2005.12.008 (10.1016/j.tibs.2005.12.008) / Trends Biochem Sci by RJ Klose (2006)
  52. Kordasiewicz HB, Stanek LM, Wancewicz EV, Mazur C, McAlonis MM, Pytel KA, Artates JW, Weiss A, Cheng SH, Shihabuddin LS, Hung G, Bennett CF, Cleveland DW (2012) Sustained therapeutic reversal of Huntington’s disease by transient repression of huntingtin synthesis. Neuron 74(6):1031–1044. doi: 10.1016/j.neuron.2012.05.009 (10.1016/j.neuron.2012.05.009) / Neuron by HB Kordasiewicz (2012)
  53. Kragh CL, Ubhi K, Wyss-Coray T, Masliah E (2012) Autophagy in dementias. Brain Pathol 22(1):99–109. doi: 10.1111/j.1750-3639.2011.00545.x (10.1111/j.1750-3639.2011.00545.x) / Brain Pathol by CL Kragh (2012)
  54. Kumar A, Parkesh R, Sznajder LJ, Childs-Disney JL, Sobczak K, Disney MD (2012) Chemical correction of pre-mRNA splicing defects associated with sequestration of muscleblind-like 1 protein by expanded r(CAG)-containing transcripts. ACS Chem Biol 7(3):496–505. doi: 10.1021/cb200413a (10.1021/cb200413a) / ACS Chem Biol by A Kumar (2012)
  55. Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323(5918):1205–1208. doi: 10.1126/science.1166066 (10.1126/science.1166066) / Science by TJ Kwiatkowski Jr (2009)
  56. Ladd PD, Smith LE, Rabaia NA, Moore JM, Georges SA, Hansen RS, Hagerman RJ, Tassone F, Tapscott SJ, Filippova GN (2007) An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum Mol Genet 16(24):3174–3187. doi: 10.1093/hmg/ddm293 (10.1093/hmg/ddm293) / Hum Mol Genet by PD Ladd (2007)
  57. Lagier-Tourenne C, Baughn M, Rigo F, Sun S, Liu P, Li HR, Jiang J, Watt AT, Chun S, Katz M, Qiu J, Sun Y, Ling SC, Zhu Q, Polymenidou M, Drenner K, Artates JW, McAlonis-Downes M, Markmiller S, Hutt KR, Pizzo DP, Cady J, Harms MB, Baloh RH, Vandenberg SR, Yeo GW, Fu XD, Bennett CF, Cleveland DW, Ravits J (2013) Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc Natl Acad Sci USA 110(47):E4530–E4539. doi: 10.1073/pnas.1318835110 (10.1073/pnas.1318835110) / Proc Natl Acad Sci USA by C Lagier-Tourenne (2013)
  58. Lee WC, Almeida S, Prudencio M, Caulfield TR, Zhang YJ, Tay WM, Bauer PO, Chew J, Sasaguri H, Jansen-West KR, Gendron TF, Stetler CT, Finch N, Mackenzie IR, Rademakers R, Gao FB, Petrucelli L (2013) Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency. Hum Mol Genet. doi: 10.1093/hmg/ddt534 / Hum Mol Genet by WC Lee (2013)
  59. Lee YB, Chen HJ, Peres JN, Gomez-Deza J, Attig J, Stalekar M, Troakes C, Nishimura AL, Scotter EL, Vance C, Adachi Y, Sardone V, Miller JW, Smith BN, Gallo JM, Ule J, Hirth F, Rogelj B, Houart C, Shaw CE (2013) Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic. Cell Rep. doi: 10.1016/j.celrep.2013.10.049 / Cell Rep by YB Lee (2013)
  60. Levine TP, Daniels RD, Gatta AT, Wong LH, Hayes MJ (2013) The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs. Bioinformatics 29(4):499–503. doi: 10.1093/bioinformatics/bts725 (10.1093/bioinformatics/bts725) / Bioinformatics by TP Levine (2013)
  61. Lomen-Hoerth C, Murphy J, Langmore S, Kramer JH, Olney RK, Miller B (2003) Are amyotrophic lateral sclerosis patients cognitively normal? Neurology 60(7):1094–1097 (10.1212/01.WNL.0000055861.95202.8D) / Neurology by C Lomen-Hoerth (2003)
  62. Ma AS, Moran-Jones K, Shan J, Munro TP, Snee MJ, Hoek KS, Smith R (2002) Heterogeneous nuclear ribonucleoprotein A3, a novel RNA trafficking response element-binding protein. J Biol Chem 277(20):18010–18020. doi: 10.1074/jbc.M200050200 (10.1074/jbc.M200050200) / J Biol Chem by AS Ma (2002)
  63. Mackenzie IR, Arzberger T, Kremmer E, Troost D, Lorenzl S, Mori K, Weng SM, Haass C, Kretzschmar HA, Edbauer D, Neumann M (2013) Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations. Acta Neuropathol 126(6):859–879. doi: 10.1007/s00401-013-1181-y (10.1007/s00401-013-1181-y) / Acta Neuropathol by IR Mackenzie (2013)
  64. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O’Hoy K et al (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255(5049):1253–1255 (10.1126/science.1546325) / Science by M Mahadevan (1992)
  65. Mahoney CJ, Beck J, Rohrer JD, Lashley T, Mok K, Shakespeare T, Yeatman T, Warrington EK, Schott JM, Fox NC, Rossor MN, Hardy J, Collinge J, Revesz T, Mead S, Warren JD (2012) Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain 135(Pt 3):736–750. doi: 10.1093/brain/awr361 (10.1093/brain/awr361) / Brain by CJ Mahoney (2012)
  66. Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chio A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 11(4):323–330. doi: 10.1016/S1474-4422(12)70043-1 (10.1016/S1474-4422(12)70043-1) / Lancet Neurol by E Majounie (2012)
  67. Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA (2000) Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289(5485):1769–1773 (pii: 8803) (10.1126/science.289.5485.1769) / Science by A Mankodi (2000)
  68. Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA (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(1):35–44. doi: S1097276502005634 (10.1016/S1097-2765(02)00563-4) / Mol Cell by A Mankodi (2002)
  69. Mann DM, Rollinson S, Robinson A, Bennion Callister J, Thompson JC, Snowden JS, Gendron T, Petrucelli L, Masuda-Suzukake M, Hasegawa M, Davidson Y, Pickering-Brown S (2013) Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun 1(1):68. doi: 10.1186/2051-5960-1-68 (10.1186/2051-5960-1-68) / Acta Neuropathol Commun by DM Mann (2013)
  70. Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS (2000) Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 19(17):4439–4448. doi: 10.1093/emboj/19.17.4439 (10.1093/emboj/19.17.4439) / EMBO J by JW Miller (2000)
  71. Miller TM, Pestronk A, David W, Rothstein J, Simpson E, Appel SH, Andres PL, Mahoney K, Allred P, Alexander K, Ostrow LW, Schoenfeld D, Macklin EA, Norris DA, Manousakis G, Crisp M, Smith R, Bennett CF, Bishop KM, Cudkowicz ME (2013) An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study. Lancet Neurol 12(5):435–442. doi: 10.1016/S1474-4422(13)70061-9 (10.1016/S1474-4422(13)70061-9) / Lancet Neurol by TM Miller (2013)
  72. Mizielinska S, Lashley T, Norona FE, Clayton EL, Ridler CE, Fratta P, Isaacs AM (2013) C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci. Acta Neuropathol 126(6):845–857. doi: 10.1007/s00401-013-1200-z (10.1007/s00401-013-1200-z) / Acta Neuropathol by S Mizielinska (2013)
  73. Mooers BH, Logue JS, Berglund JA (2005) The structural basis of myotonic dystrophy from the crystal structure of CUG repeats. Proc Natl Acad Sci USA 102(46):16626–16631. doi: 10.1073/pnas.0505873102 (10.1073/pnas.0505873102) / Proc Natl Acad Sci USA by BH Mooers (2005)
  74. Mori K, Arzberger T, Grasser FA, Gijselinck I, May S, Rentzsch K, Weng SM, Schludi MH, van der Zee J, Cruts M, Van Broeckhoven C, Kremmer E, Kretzschmar HA, Haass C, Edbauer D (2013) Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. Acta Neuropathol 126(6):881–893. doi: 10.1007/s00401-013-1189-3 (10.1007/s00401-013-1189-3) / Acta Neuropathol by K Mori (2013)
  75. Mori K, Lammich S, Mackenzie IR, Forne I, Zilow S, Kretzschmar H, Edbauer D, Janssens J, Kleinberger G, Cruts M, Herms J, Neumann M, Van Broeckhoven C, Arzberger T, Haass C (2013) hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol 125(3):413–423. doi: 10.1007/s00401-013-1088-7 (10.1007/s00401-013-1088-7) / Acta Neuropathol by K Mori (2013)
  76. Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D (2013) The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 339(6125):1335–1338. doi: 10.1126/science.1232927 (10.1126/science.1232927) / Science by K Mori (2013)
  77. Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, Chen G, Weatherspoon MR, Clark HB, Ebner TJ, Day JW, Ranum LP (2006) Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet 38(7):758–769. doi: 10.1038/ng1827 (10.1038/ng1827) / Nat Genet by ML Moseley (2006)
  78. Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW (2011) Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol 122(6):673–690. doi: 10.1007/s00401-011-0907-y (10.1007/s00401-011-0907-y) / Acta Neuropathol by ME Murray (2011)
  79. Pasquali L, Ruffoli R, Fulceri F, Pietracupa S, Siciliano G, Paparelli A, Fornai F (2010) The role of autophagy: what can be learned from the genetic forms of amyotrophic lateral sclerosis. CNS Neurol Disord Drug Targets 9(3):268–278. doi: BSP/CDTCNSND/E-Pub/00031 (10.2174/187152710791292594) / CNS Neurol Disord Drug Targets by L Pasquali (2010)
  80. Phukan J, Pender NP, Hardiman O (2007) Cognitive impairment in amyotrophic lateral sclerosis. Lancet Neurol 6(11):994–1003 (10.1016/S1474-4422(07)70265-X) / Lancet Neurol by J Phukan (2007)
  81. Pikkarainen M, Hartikainen P, Alafuzoff I (2010) Ubiquitinated p62-positive, TDP-43-negative inclusions in cerebellum in frontotemporal lobar degeneration with TAR DNA binding protein 43. Neuropathology 30(2):197–199. doi: 10.1111/j.1440-1789.2009.01043.x (10.1111/j.1440-1789.2009.01043.x) / Neuropathology by M Pikkarainen (2010)
  82. Prudencio M, Jansen-West KR, Lee WC, Gendron TF, Zhang YJ, Xu YF, Gass J, Stuani C, Stetler C, Rademakers R, Dickson DW, Buratti E, Petrucelli L (2012) Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor. Proc Natl Acad Sci USA 109(52):21510–21515. doi: 10.1073/pnas.1211577110 (10.1073/pnas.1211577110) / Proc Natl Acad Sci USA by M Prudencio (2012)
  83. Reddy K, Zamiri B, Stanley SY, Macgregor RB Jr, Pearson CE (2013) 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 288(14):9860–9866. doi: 10.1074/jbc.C113.452532 (10.1074/jbc.C113.452532) / J Biol Chem by K Reddy (2013)
  84. Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72(2):257–268. doi: 10.1016/j.neuron.2011.09.010 (10.1016/j.neuron.2011.09.010) / Neuron by AE Renton (2011)
  85. Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R (2008) Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet 4(9):e1000193 (10.1371/journal.pgen.1000193) / PLoS Genet by NJ Rutherford (2008)
  86. Sareen D, O’Rourke JG, Meera P, Muhammad AK, Grant S, Simpkinson M, Bell S, Carmona S, Ornelas L, Sahabian A, Gendron T, Petrucelli L, Baughn M, Ravits J, Harms MB, Rigo F, Bennett CF, Otis TS, Svendsen CN, Baloh RH (2013) Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med 5(208):208ra149. doi: 10.1126/scitranslmed.3007529 (10.1126/scitranslmed.3007529) / Sci Transl Med by D Sareen (2013)
  87. Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H (2009) Spinocerebellar ataxia type 31 is associated with “inserted” penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet 85(5):544–557. doi: 10.1016/j.ajhg.2009.09.019 (10.1016/j.ajhg.2009.09.019) / Am J Hum Genet by N Sato (2009)
  88. Satoh JI, Tabunoki H, Ishida T, Saito Y, Arima K (2012) Dystrophic neurites express C9orf72 in Alzheimer’s disease brains. Alzheimers Res Ther 4(4):33. doi: 10.1186/alzrt136 (10.1186/alzrt136) / Alzheimers Res Ther by JI Satoh (2012)
  89. Simon-Sanchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P, van Swieten JC (2012) The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain 135(Pt 3):723–735. doi: 10.1093/brain/awr353 (10.1093/brain/awr353) / Brain by J Simon-Sanchez (2012)
  90. Snowden JS, Rollinson S, Thompson JC, Harris JM, Stopford CL, Richardson AM, Jones M, Gerhard A, Davidson YS, Robinson A, Gibbons L, Hu Q, DuPlessis D, Neary D, Mann DM, Pickering-Brown SM (2012) Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 135(Pt 3):693–708. doi: 10.1093/brain/awr355 (10.1093/brain/awr355) / Brain by JS Snowden (2012)
  91. Sobczak K, de Mezer M, Michlewski G, Krol J, Krzyzosiak WJ (2003) RNA structure of trinucleotide repeats associated with human neurological diseases. Nucleic Acids Res 31(19):5469–5482 (10.1093/nar/gkg766) / Nucleic Acids Res by K Sobczak (2003)
  92. Steinbach P, Glaser D, Vogel W, Wolf M, Schwemmle S (1998) The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat. Am J Hum Genet 62(2):278–285. doi: 10.1086/301711 (10.1086/301711) / Am J Hum Genet by P Steinbach (1998)
  93. Stewart H, Rutherford NJ, Briemberg H, Krieger C, Cashman N, Fabros M, Baker M, Fok A, Dejesus-Hernandez M, Eisen A, Rademakers R, Mackenzie IR (2012) Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neuropathol 123(3):409–417. doi: 10.1007/s00401-011-0937-5 (10.1007/s00401-011-0937-5) / Acta Neuropathol by H Stewart (2012)
  94. Suzuki N, Maroof AM, Merkle FT, Koszka K, Intoh A, Armstrong I, Moccia R, Davis-Dusenbery BN, Eggan K (2013) The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD. Nat Neurosci 16(12):1725–1727. doi: 10.1038/nn.3566 (10.1038/nn.3566) / Nat Neurosci by N Suzuki (2013)
  95. Taneja KL, McCurrach M, Schalling M, Housman D, Singer RH (1995) Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 128(6):995–1002 (10.1083/jcb.128.6.995) / J Cell Biol by KL Taneja (1995)
  96. Timchenko LT, Miller JW, Timchenko NA, DeVore DR, Datar KV, Lin L, Roberts R, Caskey CT, Swanson MS (1996) Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res 24(22):4407–4414 (pii: 6e0437) (10.1093/nar/24.22.4407) / Nucleic Acids Res by LT Timchenko (1996)
  97. Todd PK, Oh SY, Krans A, He F, Sellier C, Frazer M, Renoux AJ, Chen KC, Scaglione KM, Basrur V, Elenitoba-Johnson K, Vonsattel JP, Louis ED, Sutton MA, Taylor JP, Mills RE, Charlet-Berguerand N, Paulson HL (2013) CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. Neuron 78(3):440–455. doi: 10.1016/j.neuron.2013.03.026 (10.1016/j.neuron.2013.03.026) / Neuron by PK Todd (2013)
  98. Todd PK, Oh SY, Krans A, Pandey UB, Di Prospero NA, Min KT, Taylor JP, Paulson HL (2010) Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome. PLoS Genet 6(12):e1001240. doi: 10.1371/journal.pgen.1001240 (10.1371/journal.pgen.1001240) / PLoS Genet by PK Todd (2010)
  99. Touriol C, Bornes S, Bonnal S, Audigier S, Prats H, Prats AC, Vagner S (2003) Generation of protein isoform diversity by alternative initiation of translation at non-AUG codons. Biol Cell 95(3–4):169–178. doi: S0248490003000339 (10.1016/S0248-4900(03)00033-9) / Biol Cell by C Touriol (2003)
  100. Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323(5918):1208–1211. doi: 10.1126/science.1165942 (10.1126/science.1165942) / Science by C Vance (2009)
  101. Wang GS, Kearney DL, De Biasi M, Taffet G, Cooper TA (2007) Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. J Clin Invest 117(10):2802–2811. doi: 10.1172/JCI32308 (10.1172/JCI32308) / J Clin Invest by GS Wang (2007)
  102. Wilburn B, Rudnicki DD, Zhao J, Weitz TM, Cheng Y, Gu X, Greiner E, Park CS, Wang N, Sopher BL, La Spada AR, Osmand A, Margolis RL, Sun YE, Yang XW (2011) An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington’s disease-like 2 mice. Neuron 70(3):427–440. doi: 10.1016/j.neuron.2011.03.021 (10.1016/j.neuron.2011.03.021) / Neuron by B Wilburn (2011)
  103. Wong E, Cuervo AM (2010) Autophagy gone awry in neurodegenerative diseases. Nat Neurosci 13(7):805–811. doi: 10.1038/nn.2575 (10.1038/nn.2575) / Nat Neurosci by E Wong (2010)
  104. Xi Z, Zinman L, Moreno D, Schymick J, Liang Y, Sato C, Zheng Y, Ghani M, Dib S, Keith J, Robertson J, Rogaeva E (2013) Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion. Am J Hum Genet 92(6):981–989. doi: 10.1016/j.ajhg.2013.04.017 (10.1016/j.ajhg.2013.04.017) / Am J Hum Genet by Z Xi (2013)
  105. Xiao X, Wang Z, Jang M, Nutiu R, Wang ET, Burge CB (2009) Splice site strength-dependent activity and genetic buffering by poly-G runs. Nat Struct Mol Biol 16(10):1094–1100. doi: 10.1038/nsmb.1661 (10.1038/nsmb.1661) / Nat Struct Mol Biol by X Xiao (2009)
  106. Xu Z, Poidevin M, Li X, Li Y, Shu L, Nelson DL, Li H, Hales CM, Gearing M, Wingo TS, Jin P (2013) Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci USA 110(19):7778–7783. doi: 10.1073/pnas.1219643110 (10.1073/pnas.1219643110) / Proc Natl Acad Sci USA by Z Xu (2013)
  107. Yokoseki A, Shiga A, Tan CF, Tagawa A, Kaneko H, Koyama A, Eguchi H, Tsujino A, Ikeuchi T, Kakita A, Okamoto K, Nishizawa M, Takahashi H, Onodera O (2008) TDP-43 mutation in familial amyotrophic lateral sclerosis. Ann Neurol 63(4):538–542 (10.1002/ana.21392) / Ann Neurol by A Yokoseki (2008)
  108. Zhang D, Iyer LM, He F, Aravind L (2012) Discovery of novel DENN proteins: implications for the evolution of eukaryotic intracellular membrane structures and human disease. Front Genet 3:283. doi: 10.3389/fgene.2012.00283 / Front Genet by D Zhang (2012)
  109. Zu T, Gibbens B, Doty NS, Gomes-Pereira M, Huguet A, Stone MD, Margolis J, Peterson M, Markowski TW, Ingram MA, Nan Z, Forster C, Low WC, Schoser B, Somia NV, Clark HB, Schmechel S, Bitterman PB, Gourdon G, Swanson MS, Moseley M, Ranum LP (2011) Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci USA 108(1):260–265. doi: 10.1073/pnas.1013343108 (10.1073/pnas.1013343108) / Proc Natl Acad Sci USA by T Zu (2011)
  110. Zu T, Liu Y, Banez-Coronel M, Reid T, Pletnikova O, Lewis J, Miller TM, Harms MB, Falchook AE, Subramony SH, Ostrow LW, Rothstein JD, Troncoso JC, Ranum LP (2013) RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci USA. doi: 10.1073/pnas.1315438110 / Proc Natl Acad Sci USA by T Zu (2013)
Dates
Type When
Created 11 years, 7 months ago (Jan. 6, 2014, 1:36 a.m.)
Deposited 6 years, 3 months ago (May 28, 2019, 9:24 a.m.)
Indexed 16 hours, 1 minute ago (Sept. 4, 2025, 10:17 a.m.)
Issued 11 years, 7 months ago (Jan. 7, 2014)
Published 11 years, 7 months ago (Jan. 7, 2014)
Published Online 11 years, 7 months ago (Jan. 7, 2014)
Published Print 11 years, 6 months ago (March 1, 2014)
Funders 0

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@article{Gendron_2014, title={Mechanisms of toxicity in C9FTLD/ALS}, volume={127}, ISSN={1432-0533}, url={http://dx.doi.org/10.1007/s00401-013-1237-z}, DOI={10.1007/s00401-013-1237-z}, number={3}, journal={Acta Neuropathologica}, publisher={Springer Science and Business Media LLC}, author={Gendron, Tania F. and Belzil, Veronique V. and Zhang, Yong-Jie and Petrucelli, Leonard}, year={2014}, month=jan, pages={359–376} }