Bajc Cesnik A, Darovic S, Prpar Mihevc S, Stalekar M, Malnar M, Motaln H, Lee YB, Mazej J, Pohleven J, Grosch M, Modic M, Fonovic M, Turk B, Drukker M, Shaw CE, Rogelj B (2019) Nuclear RNA foci from C9ORF72 expansion mutation form paraspeckle-like bodies. J Cell Sci 132.
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 126:895–905
Article
CAS
PubMed
PubMed Central
Google Scholar
Burgess HM, Richardson WA, Anderson RC, Salaun C, Graham SV, Gray NK (2011) Nuclear relocalisation of cytoplasmic poly(A)-binding proteins PABP1 and PABP4 in response to UV irradiation reveals mRNA-dependent export of metazoan PABPs. J Cell Sci 124:3344–3355
Article
CAS
PubMed
PubMed Central
Google Scholar
Chen LS, Tassone F, Sahota P, Hagerman PJ (2003) The (CGG)n repeat element within the 5’ untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum Mol Genet 12:3067–3074
Article
CAS
PubMed
Google Scholar
Cheng W, Wang S, Mestre AA, Fu C, Makarem A, Xian F, Hayes LR, Lopez-Gonzalez R, Drenner K, Jiang J, Cleveland DW, Sun S (2018) C9ORF72 GGGGCC repeat-associated non-AUG translation is upregulated by stress through eIF2alpha phosphorylation. Nat Commun 9:51
Article
PubMed
PubMed Central
CAS
Google Scholar
Choi HM, Beck VA, Pierce NA (2014) Multiplexed in situ hybridization using hybridization chain reaction. Zebrafish 11:488–489
Article
PubMed
Google Scholar
Choi HM, Beck VA, Pierce NA (2014) Next-generation in situ hybridization chain reaction: higher gain, lower cost, greater durability. ACS Nano 8:4284–4294
Article
CAS
PubMed
PubMed Central
Google Scholar
Choi HMT, Schwarzkopf M, Fornace ME, Acharya A, Artavanis G, Stegmaier J, Cunha A, Pierce NA (2018) Third-generation in situ hybridization chain reaction: multiplexed, quantitative, sensitive, versatile, robust. Development 145
Choi J, Love KR, Gong Y, Gierahn TM, Love JC (2011) Immuno-hybridization chain reaction for enhancing detection of individual cytokine-secreting human peripheral mononuclear cells. Anal Chem 83:6890–6895
Article
CAS
PubMed
PubMed Central
Google Scholar
Chou CC, Zhang Y, Umoh ME, Vaughan SW, Lorenzini I, Liu F, Sayegh M, Donlin-Asp PG, Chen YH, Duong DM, Seyfried NT, Powers MA, Kukar T, Hales CM, Gearing M, Cairns NJ, Boylan KB, Dickson DW, Rademakers R, Zhang YJ, Petrucelli L, Sattler R, Zarnescu DC, Glass JD, Rossoll W (2018) TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD. Nat Neurosci 21:228–239
Article
CAS
PubMed
PubMed Central
Google Scholar
Conlon EG, Lu L, Sharma A, Yamazaki T, Tang T, Shneider NA, Manley JL (2016) The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains. Elife 5
Cooper-Knock J, Walsh MJ, Higginbottom A, Robin Highley J, Dickman MJ, Edbauer D, Ince PG, Wharton SB, Wilson SA, Kirby J, Hautbergue GM, Shaw PJ (2014) Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions. Brain 137:2040–2051
Article
PubMed
PubMed Central
Google Scholar
DeJesus-Hernandez M, Finch NA, Wang X, Gendron TF, Bieniek KF, Heckman MG, Vasilevich A, Murray ME, Rousseau L, Weesner R, Lucido A, Parsons M, Chew J, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Graff-Radford NR, de Boer J, Asmann YW, Petrucelli L, Boylan KB, Dickson DW, van Blitterswijk M, Rademakers R (2017) In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers. Acta Neuropathol 134:255–269
Article
CAS
PubMed
PubMed Central
Google Scholar
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 72:245–256
Article
CAS
PubMed
PubMed Central
Google Scholar
Didiot MC, Ferguson CM, Ly S, Coles AH, Smith AO, Bicknell AA, Hall LM, Sapp E, Echeverria D, Pai AA, DiFiglia M, Moore MJ, Hayward LJ, Aronin N, Khvorova A (2018) Nuclear Localization of Huntingtin mRNA Is Specific to Cells of Neuronal Origin. Cell Rep 24(2553–60):e5
Google Scholar
Duan Y, Du A, Gu J, Duan G, Wang C, Gui X, Ma Z, Qian B, Deng X, Zhang K, Sun L, Tian K, Zhang Y, Jiang H, Liu C, Fang Y (2019) PARylation regulates stress granule dynamics, phase separation, and neurotoxicity of disease-related RNA-binding proteins. Cell Res 29:233–247
Article
CAS
PubMed
PubMed Central
Google Scholar
Echeverria GV, Cooper TA (2012) RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity. Brain Res 1462:100–111
Article
CAS
PubMed
PubMed Central
Google Scholar
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 11:805–814
Article
CAS
PubMed
Google Scholar
Fay MM, Anderson PJ, Ivanov P (2017) ALS/FTD-Associated C9ORF72 Repeat RNA Promotes Phase Transitions In Vitro and in Cells. Cell Rep 21:3573–3584
Article
CAS
PubMed
PubMed Central
Google Scholar
Ferguson ML, Larson DR (2013) Measuring transcription dynamics in living cells using fluctuation analysis. Methods Mol Biol 1042:47–60
Article
CAS
PubMed
PubMed Central
Google Scholar
Fernandopulle MS, Prestil R, Grunseich C, Wang C, Gan L, Ward ME (2018) Transcription factor-mediated differentiation of human iPSCs into neurons. Curr Protoc Cell Biol 79:e51
Article
PubMed
PubMed Central
CAS
Google Scholar
Frottin F, Schueder F, Tiwary S, Gupta R, Korner R, Schlichthaerle T, Cox J, Jungmann R, Hartl FU, Hipp MS (2019) The nucleolus functions as a phase-separated protein quality control compartment. Science 365:342–347
Article
CAS
PubMed
Google Scholar
Gasset-Rosa F, Lu S, Yu H, Chen C, Melamed Z, Guo L, Shorter J, Da Cruz S, Cleveland DW (2019) Cytoplasmic TDP-43 de-mixing independent of stress granules drives inhibition of nuclear import, loss of nuclear TDP-43, and cell death. Neuron 102(339–57):e7
Google Scholar
Green KM, Glineburg MR, Kearse MG, Flores BN, Linsalata AE, Fedak SJ, Goldstrohm AC, Barmada SJ, Todd PK (2017) RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response. Nat Commun 8:2005
Article
PubMed
PubMed Central
CAS
Google Scholar
Groh M, Lufino MM, Wade-Martins R, Gromak N (2014) R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome. PLoS Genet 10:e1004318
Article
PubMed
PubMed Central
CAS
Google Scholar
Haenfler JM, Skariah G, Rodriguez CM, Monteiro da Rocha A, Parent JM, Smith GD, Todd PK (2018) Targeted reactivation of FMR1 Transcription in fragile x syndrome embryonic stem cells. Front Mol Neurosci 11:282
Article
PubMed
PubMed Central
CAS
Google Scholar
Haeusler AR, Donnelly CJ, Periz G, Simko EA, Shaw PG, Kim MS, Maragakis NJ, Troncoso JC, Pandey A, Sattler R, Rothstein JD, Wang J (2014) C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature 507:195–200
Article
CAS
PubMed
PubMed Central
Google Scholar
Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ (2001) Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57:127–130
Article
CAS
PubMed
Google Scholar
Hoem G, Raske CR, Garcia-Arocena D, Tassone F, Sanchez E, Ludwig AL, Iwahashi CK, Kumar M, Yang JE, Hagerman PJ (2011) CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS. Hum Mol Genet 20:2161–2170
Article
CAS
PubMed
PubMed Central
Google Scholar
Iwahashi CK, Yasui DH, An HJ, Greco CM, Tassone F, Nannen K, Babineau B, Lebrilla CB, Hagerman RJ, Hagerman PJ (2006) Protein composition of the intranuclear inclusions of FXTAS. Brain 129:256–271
Article
CAS
PubMed
Google Scholar
Jain A, Vale RD (2017) RNA phase transitions in repeat expansion disorders. Nature 546:243–247
Article
CAS
PubMed
PubMed Central
Google Scholar
Jin P, Duan R, Qurashi A, Qin Y, Tian D, Rosser TC, Liu H, Feng Y, Warren ST (2007) Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron 55:556–564
Article
CAS
PubMed
PubMed Central
Google Scholar
Johnson SJ, Cooper TA (2021) Overlapping mechanisms of lncRNA and expanded microsatellite RNA. Wiley Interdiscip Rev RNA 12:e1634
Article
CAS
PubMed
Google Scholar
Kearse MG, Green KM, Krans A, Rodriguez CM, Linsalata AE, Goldstrohm AC, Todd PK (2016) CGG repeat-associated non-AUG translation utilizes a cap-dependent scanning mechanism of initiation to produce toxic proteins. Mol Cell 62:314–322
Article
CAS
PubMed
PubMed Central
Google Scholar
Kedersha N, Stoecklin G, Ayodele M, Yacono P, Lykke-Andersen J, Fritzler MJ, Scheuner D, Kaufman RJ, Golan DE, Anderson P (2005) Stress granules and processing bodies are dynamically linked sites of mRNP remodeling. J Cell Biol 169:871–884
Article
CAS
PubMed
PubMed Central
Google Scholar
Khateb S, Weisman-Shomer P, Hershco-Shani I, Ludwig AL, Fry M (2007) The tetraplex (CGG)n destabilizing proteins hnRNP A2 and CBF-A enhance the in vivo translation of fragile X premutation mRNA. Nucleic Acids Res 35:5775–5788
Article
CAS
PubMed
PubMed Central
Google Scholar
Kozlowski P, de Mezer M, Krzyzosiak WJ (2010) Trinucleotide repeats in human genome and exome. Nucleic Acids Res 38:4027–4039
Article
CAS
PubMed
PubMed Central
Google Scholar
Krans A, Skariah G, Zhang Y, Bayly B, Todd PK (2019) Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome. Acta Neuropathol Commun 7:152
Article
PubMed
PubMed Central
CAS
Google Scholar
La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352:77–79
Article
PubMed
Google Scholar
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 5:1178–1186
Article
CAS
PubMed
PubMed Central
Google Scholar
Li YR, King OD, Shorter J, Gitler AD (2013) Stress granules as crucibles of ALS pathogenesis. J Cell Biol 201:361–372
Article
CAS
PubMed
PubMed Central
Google Scholar
Liu J, Hu J, Ludlow AT, Pham JT, Shay JW, Rothstein JD, Corey DR (2017) c9orf72 disease-related foci are each composed of one mutant expanded repeat RNA. Cell Chem Biol 24:141–148
Article
PubMed
PubMed Central
CAS
Google Scholar
Mahboubi H, Seganathy E, Kong D, Stochaj U (2013) Identification of Novel Stress Granule Components That Are Involved in Nuclear Transport. PLoS ONE 8:e68356
Article
CAS
PubMed
PubMed Central
Google Scholar
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 289:1769–1773
Article
CAS
PubMed
Google Scholar
Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M, Henderson D, Schalling M, Swanson MS, Thornton CA (2001) Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet 10:2165–2170
Article
CAS
PubMed
Google Scholar
Mehta AR, Selvaraj BT, Barton SK, McDade K, Abrahams S, Chandran S, Smith C, Gregory JM (2020) Improved detection of RNA foci in C9orf72 amyotrophic lateral sclerosis post-mortem tissue using BaseScope shows a lack of association with cognitive dysfunction. Brain Commun 2: fcaa009
Metz A, Soret J, Vourc’h C, Tazi J, Jolly C (2004) A key role for stress-induced satellite III transcripts in the relocalization of splicing factors into nuclear stress granules. J Cell Sci 117:4551–4558
Article
CAS
PubMed
Google Scholar
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 19:4439–4448
Article
CAS
PubMed
PubMed Central
Google Scholar
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 126:845–857
Article
CAS
PubMed
PubMed Central
Google Scholar
Nussbacher JK, Tabet R, Yeo GW, Lagier-Tourenne C (2019) Disruption of RNA Metabolism in Neurological Diseases and Emerging Therapeutic Interventions. Neuron 102:294–320
Article
CAS
PubMed
PubMed Central
Google Scholar
Orr HT, Zoghbi HY (2007) Trinucleotide repeat disorders. Annu Rev Neurosci 30:575–621
Article
CAS
PubMed
Google Scholar
Patterson JR, Wood MP, Schisa JA (2011) Assembly of RNP granules in stressed and aging oocytes requires nucleoporins and is coordinated with nuclear membrane blebbing. Dev Biol 353:173–185
Article
CAS
PubMed
PubMed Central
Google Scholar
Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH, Das SS, Vig P, Mandel JL, Fischbeck KH, Pittman RN (1997) Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 19:333–344
Article
CAS
PubMed
Google Scholar
Reddy K, Schmidt MH, Geist JM, Thakkar NP, Panigrahi GB, Wang YH, Pearson CE (2014) Processing of double-R-loops in (CAG). (CTG) and C9orf72 (GGGGCC). (GGCCCC) repeats causes instability. Nucleic Acids Res 42:10473–10487
Article
PubMed
PubMed Central
CAS
Google Scholar
Reddy K, Tam M, Bowater RP, Barber M, Tomlinson M, Nichol Edamura K, Wang YH, Pearson CE (2011) Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats. Nucleic Acids Res 39:1749–1762
Article
CAS
PubMed
Google Scholar
A. E. Renton, E. Majounie, A. Waite, J. Simon-Sanchez, S. Rollinson, J. R. Gibbs, J. C. Schymick, H. Laaksovirta, J. C. van Swieten, L. Myllykangas, H. Kalimo, A. Paetau, Y. Abramzon, A. M. Remes, A. Kaganovich, S. W. Scholz, J. Duckworth, J. Ding, D. W. Harmer, D. G. Hernandez, J. O. Johnson, K. Mok, M. Ryten, D. Trabzuni, R. J. Guerreiro, R. W. Orrell, J. Neal, A. Murray, J. Pearson, I. E. Jansen, D. Sondervan, H. Seelaar, D. Blake, K. Young, N. Halliwell, J. B. Callister, G. Toulson, A. Richardson, A. Gerhard, J. Snowden, D. Mann, D. Neary, M. A. Nalls, T. Peuralinna, L. Jansson, V. M. Isoviita, A. L. Kaivorinne, M. Holtta-Vuori, E. Ikonen, R. Sulkava, M. Benatar, J. Wuu, A. Chio, G. Restagno, G. Borghero, M. Sabatelli, Italsgen Consortium, D. Heckerman, E. Rogaeva, L. Zinman, J. D. Rothstein, M. Sendtner, C. Drepper, E. E. Eichler, C. Alkan, Z. Abdullaev, S. D. Pack, A. Dutra, E. Pak, J. Hardy, A. Singleton, N. M. Williams, P. Heutink, S. Pickering-Brown, H. R. Morris, P. J. Tienari, and B. J. Traynor (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72:257–268
Article
CAS
Google Scholar
Rodriguez CM, Todd PK (2019) New pathologic mechanisms in nucleotide repeat expansion disorders. Neurobiol Dis 130:104515
Article
CAS
PubMed
PubMed Central
Google Scholar
Rodriguez CM, Wright SE, Kearse MG, Haenfler JM, Flores BN, Liu Y, Ifrim MF, Glineburg MR, Krans A, Jafar-Nejad P, Sutton MA, Bassell GJ, Parent JM, Rigo F, Barmada SJ, Todd PK (2020) A native function for RAN translation and CGG repeats in regulating fragile X protein synthesis. Nat Neurosci 23:386–397
Article
CAS
PubMed
PubMed Central
Google Scholar
Rossi S, Serrano A, Gerbino V, Giorgi A, Di Francesco L, Nencini M, Bozzo F, Schinina ME, Bagni C, Cestra G, Carri MT, Achsel T, Cozzolino M (2015) Nuclear accumulation of mRNAs underlies G4C2-repeat-induced translational repression in a cellular model of C9orf72 ALS. J Cell Sci 128:1787–1799
Article
CAS
PubMed
Google Scholar
Saxonov S, Berg P, Brutlag DL (2006) A genome-wide analysis of CpG dinucleotides in the human genome distinguishes two distinct classes of promoters. Proc Natl Acad Sci U S A 103:1412–1417
Article
CAS
PubMed
PubMed Central
Google Scholar
Sellier C, Freyermuth F, Tabet R, Tran T, He F, Ruffenach F, Alunni V, Moine H, Thibault C, Page A, Tassone F, Willemsen R, Disney MD, Hagerman PJ, Todd PK, Charlet-Berguerand N (2013) Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. Cell Rep 3:869–880
Article
CAS
PubMed
PubMed Central
Google Scholar
Sellier C, Rau F, Liu Y, Tassone F, Hukema RK, Gattoni R, Schneider A, Richard S, Willemsen R, Elliott DJ, Hagerman PJ, Charlet-Berguerand N (2010) Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J 29:1248–1261
Article
CAS
PubMed
PubMed Central
Google Scholar
Shah S, Lubeck E, Schwarzkopf M, He TF, Greenbaum A, Sohn CH, Lignell A, Choi HM, Gradinaru V, Pierce NA, Cai L (2016) Single-molecule RNA detection at depth by hybridization chain reaction and tissue hydrogel embedding and clearing. Development 143:2862–2867
Article
CAS
PubMed
PubMed Central
Google Scholar
Sofola OA, Jin P, Qin Y, Duan R, Liu H, de Haro M, Nelson DL, Botas J (2007) RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron 55:565–571
Article
CAS
PubMed
PubMed Central
Google Scholar
Sonobe Y, Ghadge G, Masaki K, Sendoel A, Fuchs E, Roos RP (2018) Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress. Neurobiol Dis 116:155–165
Article
CAS
PubMed
PubMed Central
Google Scholar
Spille JH, Hecht M, Grube V, Cho WK, Lee C, Cisse II (2019) A CRISPR/Cas9 platform for MS2-labelling of single mRNA in live stem cells. Methods 153:35–45
Article
CAS
PubMed
Google Scholar
Sulovari, A., R. Li, P. A. Audano, D. Porubsky, M. R. Vollger, G. A. Logsdon, Consortium Human Genome Structural Variation, W. C. Warren, A. A. Pollen, M. J. P. Chaisson, and E. E. Eichler (2019) Human-specific tandem repeat expansion and differential gene expression during primate evolution. Proc Natl Acad Sci U S A 116:23243–23253
Article
CAS
Google Scholar
Swinnen B, Robberecht W, Van Den Bosch L (2020) RNA toxicity in non-coding repeat expansion disorders. EMBO J 39:e101112
Article
CAS
PubMed
Google Scholar
Tantale K, Mueller F, Kozulic-Pirher A, Lesne A, Victor JM, Robert MC, Capozi S, Chouaib R, Backer V, Mateos-Langerak J, Darzacq X, Zimmer C, Basyuk E, Bertrand E (2016) A single-molecule view of transcription reveals convoys of RNA polymerases and multi-scale bursting. Nat Commun 7:12248
Article
CAS
PubMed
PubMed Central
Google Scholar
Tassone F, Iwahashi C, Hagerman PJ (2004) FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol 1:103–105
Article
CAS
PubMed
Google Scholar
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 78:440–455
Article
CAS
PubMed
Google Scholar
Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L et al (1995) Polyglutamine expansion as a pathological epitope in Huntington’s disease and four dominant cerebellar ataxias. Nature 378:403–406
Article
CAS
PubMed
Google Scholar
Tuduri S, Crabbe L, Conti C, Tourriere H, Holtgreve-Grez H, Jauch A, Pantesco V, De Vos J, Thomas A, Theillet C, Pommier Y, Tazi J, Coquelle A, Pasero P (2009) Topoisomerase I suppresses genomic instability by preventing interference between replication and transcription. Nat Cell Biol 11:1315–1324
Article
CAS
PubMed
PubMed Central
Google Scholar
Udan-Johns M, Bengoechea R, Bell S, Shao J, Diamond MI, True HL, Weihl CC, Baloh RH (2014) Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones. Hum Mol Genet 23:157–170
Article
CAS
PubMed
Google Scholar
Urbanek MO, Krzyzosiak WJ (2016) RNA FISH for detecting expanded repeats in human diseases. Methods 98:115–123
Article
CAS
PubMed
Google Scholar
Urbanek MO, Michalak M, Krzyzosiak WJ (2017) 2D and 3D FISH of expanded repeat RNAs in human lymphoblasts. Methods 120:49–57
Article
CAS
PubMed
Google Scholar
Verma AK, Khan E, Mishra SK, Jain N, Kumar A (2019) Piperine Modulates protein mediated toxicity in fragile x-associated tremor/ataxia syndrome through interacting expanded CGG Repeat (r(CGG)(exp)) RNA. ACS Chem Neurosci 10:3778–3788
Article
CAS
PubMed
Google Scholar
Wang C, Duan Y, Duan G, Wang Q, Zhang K, Deng X, Qian B, Gu J, Ma Z, Zhang S, Guo L, Liu C, Fang Y (2020) Stress induces dynamic, cytotoxicity-antagonizing TDP-43 nuclear bodies via paraspeckle LncRNA NEAT1-mediated liquid–liquid phase separation. Mol Cell 79(443–58):e7
Google Scholar
Weskamp K, Tank EM, Miguez R, McBride JP, Gomez NB, White M, Lin Z, Gonzalez CM, Serio A, Sreedharan J, Barmada SJ (2020) Shortened TDP43 isoforms upregulated by neuronal hyperactivity drive TDP43 pathology in ALS. J Clin Invest 130:1139–1155
Article
CAS
PubMed
PubMed Central
Google Scholar
Westergard T, McAvoy K, Russell K, Wen X, Pang Y, Morris B, Pasinelli P, Trotti D, Haeusler A (2019) 'Repeat-associated non-AUG translation in C9orf72-ALS/FTD is driven by neuronal excitation and stress. EMBO Mol Med 11
Yamashita R, Suzuki Y, Sugano S, Nakai K (2005) Genome-wide analysis reveals strong correlation between CpG islands with nearby transcription start sites of genes and their tissue specificity. Gene 350:129–136
Article
CAS
PubMed
Google Scholar
Young AP, Jackson DJ, Wyeth RC (2020) A technical review and guide to RNA fluorescence in situ hybridization. PeerJ 8:e8806
Article
PubMed
PubMed Central
Google Scholar
Yu H, Lu S, Gasior K, Singh D, Vazquez-Sanchez S, Tapia O, Toprani D, Beccari MS, Yates JR 3rd, Da Cruz S, Newby JM, Lafarga M, Gladfelter AS, Villa E, Cleveland DW (2020) HSP70 chaperones RNA-free TDP-43 into anisotropic intranuclear liquid spherical shells. Science
Google Scholar
Zhang K, Daigle JG, Cunningham KM, Coyne AN, Ruan K, Grima JC, Bowen KE, Wadhwa H, Yang P, Rigo F, Taylor JP, Gitler AD, Rothstein JD, Lloyd TE (2018) Stress granule assembly disrupts nucleocytoplasmic transport. Cell 173(958–71):e17
Google Scholar
Zhang K, Donnelly CJ, Haeusler AR, Grima JC, Machamer JB, Steinwald P, Daley EL, Miller SJ, Cunningham KM, Vidensky S, Gupta S, Thomas MA, Hong I, Chiu SL, Huganir RL, Ostrow LW, Matunis MJ, Wang J, Sattler R, Lloyd TE, Rothstein JD (2015) The C9orf72 repeat expansion disrupts nucleocytoplasmic transport. Nature 525:56–61
Article
CAS
PubMed
PubMed Central
Google Scholar
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 U S A 108:260–265
Article
CAS
PubMed
Google Scholar