Cited by 363Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis ResearchGenetics and Neurodevelopmental Disorders

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Molecular mechanisms underlying nucleotide repeat expansion disorders

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Malik, Indranil, Kelley, Chase P., Wang, Eric T., Todd, Peter K.·2021·Nature Reviews Molecular Cell Biology

DOI 10.1038/s41580-021-00382-6PMC PMC9612635

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Abstract

The human genome contains over one million short tandem repeats. Expansion of a subset of these repeat tracts underlies over fifty human disorders, including common genetic causes of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (C9orf72), polyglutamine-associated ataxias and Huntington disease, myotonic dystrophy, and intellectual disability disorders such as Fragile X syndrome. In this Review, we discuss the four major mechanisms by which expansion of short tandem repeats causes disease: loss of function through transcription repression, RNA-mediated gain of function through gelation and sequestration of RNA-binding proteins, gain of function of canonically translated repeat-harbouring proteins, and repeat-associated non-AUG translation of toxic repeat peptides. Somatic repeat instability amplifies these mechanisms and influences both disease age of onset and tissue specificity of pathogenic features. We focus on the crosstalk between these disease mechanisms, and argue that they often synergize to drive pathogenesis. We also discuss the emerging native functions of repeat elements and how their dynamics might contribute to disease at a larger scale than currently appreciated. Lastly, we propose that lynchpins tying these disease mechanisms and native functions together offer promising therapeutic targets with potential shared applications across this class of human disorders.

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Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Regulated Translation Initiation Controls Stress-Induced Gene Expression in Mammalian Cells
Harding, H. P., Novoa, I., Zhang, Y., Zeng, H., Wek, R. C., Schapira, M., & Ron, D. (2000) · Molecular Cell · doi:10.1016/s1097-2765(00)00108-8 · Cited by 3,344
An Integrated Stress Response Regulates Amino Acid Metabolism and Resistance to Oxidative Stress
Harding, H. P., Zhang, Y., Zeng, H., Novoa, I., Lu, P. D., Calfon, M. A., Sadri, N., Yun, C., Popko, B., Paules, R. S., et al. (2003) · Molecular Cell · doi:10.1016/s1097-2765(03)00105-9 · Cited by 3,336
Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
Mangiarini, L., Sathasivam, K., Seller, M., Cozens, B., Harper, A., Hetherington, C., Lawton, M., Trottier, Y., Lehrach, H., Davies, S. W., et al. (1996) · Cell · doi:10.1016/s0092-8674(00)81369-0 · Cited by 3,073
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
Spada, A. L., Wilson, E. M., Lubahn, D. B., Harding, A., & Fischbeck, K. (1991) · Nature · doi:10.1038/352077a0 · Cited by 2,801
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., et al. (1996) · Science · doi:10.1126/science.271.5254.1423 · Cited by 2,786
The mechanism of eukaryotic translation initiation and principles of its regulation
Jackson, R. J., Hellen, C. U. T., & Pestova, T. V. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2838 · Cited by 2,759
The integrated stress response
Pakos‐Zebrucka, K., Koryga, I., Mnich, K., Ljujic, M., Samali, A., & Gorman, A. M. (2016) · The EMBO Reports · doi:10.15252/embr.201642195 · Cited by 2,659
Phase transitions in the assembly of multivalent signalling proteins
Li, P., Banjade, S., Cheng, H., Kim, S., Chen, B., Guo, L., Llaguno, M. C., Hollingsworth, J. V., King, D., Banani, S. F., et al. (2012) · Nature · doi:10.1038/nature10879 · Cited by 2,565
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080
Formation and Maturation of Phase-Separated Liquid Droplets by RNA-Binding Proteins
Lin, Y., Protter, D. S. W., Rosen, M. K., & Parker, R. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.08.018 · Cited by 1,593
Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., & Mandel, J. L. (1991) · Science · doi:10.1126/science.252.5009.1097 · Cited by 1,499
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
Elden, A. C., Kim, H.-J., Hart, M. P., Chen‐Plotkin, A. S., Johnson, B. S., Fang, X., Armakola, M., Geser, F., Greene, R. A., Lu, M. M., et al. (2010) · Nature · doi:10.1038/nature09320 · Cited by 1,361
Huntingtin-Encoded Polyglutamine Expansions Form Amyloid-like Protein Aggregates In Vitro and In Vivo
Scherzinger, E., Lurz, R., Turmaine, M., Mangiarini, L., Hollenbach, B., Hasenbank, R., Bates, G. P., Davies, S. W., Lehrach, H., & Wanker, E. E. (1997) · Cell · doi:10.1016/s0092-8674(00)80514-0 · Cited by 1,291
Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9
Liquori, C. L., Ricker, K., Moseley, M. L., Jacobsen, J. F., Kreß, W., Naylor, S. L., Day, J., & Ranum, L. P. W. (2001) · Science · doi:10.1126/science.1062125 · Cited by 1,254
The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
Mori, K., Weng, S., Arzberger, T., May, S., Rentzsch, K., Kremmer, E., Schmid, B., Kretzschmar, H. A., Cruts, M., Broeckhoven, C. V., et al. (2013) · Science · doi:10.1126/science.1232927 · Cited by 1,248
Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
Ash, P. E. A., Bieniek, K. F., Gendron, T. F., Caulfield, T. R., Lin, W.-L., DeJesus‐Hernandez, M., van Blitterswijk, M., Jansen‐West, K. R., Paul, J. W., Rademakers, R., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.02.004 · Cited by 1,127
Reversal of Neuropathology and Motor Dysfunction in a Conditional Model of Huntington's Disease
Yamamoto, A., Lucas, J. J., & Hen, R. (2000) · Cell · doi:10.1016/s0092-8674(00)80623-6 · Cited by 1,068
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.
Zhang, K., Donnelly, C. J., Haeusler, A. R., Grima, J. C., Machamer, J. B., Steinwald, P., Daley, E. L., Miller, S. J., Cunningham, K. M., Vidensky, S., et al. (2015) · Nature · doi:10.1038/nature14973 · Cited by 982
C9orf72 nucleotide repeat structures initiate molecular cascades of disease
Haeusler, A. R., Donnelly, C. J., Periz, G., Simko, E. A. J., Shaw, P. G., Kim, M.-S., Maragakis, N. J., Troncoso, J. C., Pandey, A., Sattler, R., et al. (2014) · Nature · doi:10.1038/nature13124 · Cited by 978
Ataxin-1 Nuclear Localization and Aggregation
Klement, I. A., Skinner, P. J., Kaytor, M. D., Yi, H. L., Hersch, S. M., Clark, H. B., Zoghbi, H. Y., & Orr, H. T. (1998) · Cell · doi:10.1016/s0092-8674(00)81781-x · Cited by 956
The Biology of Huntingtin
Saudou, F., & Humbert, S. (2016) · Neuron · doi:10.1016/j.neuron.2016.02.003 · Cited by 945
Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy
Miller, J. W., Urbinati, C. R., Teng‐umnuay, P., Stenberg, M. G., Byrne, B. J., Thornton, C. A., & Swanson, M. S. (2000) · The EMBO Journal · doi:10.1093/emboj/19.17.4439 · Cited by 937
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
Kremer, E., Pritchard, M., Lynch, M., Yu, S., Holman, K., Baker, E., Warren, S., Schlessinger, D., Sutherland, G., & Richards, R. (1991) · Science · doi:10.1126/science.1675488 · Cited by 929
Non-ATG–initiated translation directed by microsatellite expansions
Zu, T., Gibbens, B. B., Doty, N. S., Gomes-Pereira, M., Huguet-Lachon, A., Stone, M. D., Margolis, J., Peterson, M., Markowski, T. W., Ingram, M. A. C., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1013343108 · Cited by 928
RNA phase transitions in repeat expansion disorders
(2017) · doi:10.1038/nature22386 · Cited by 911
Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3
Paulson, H. L., Perez, M. K., Trottier, Y., Trojanowski, J. Q., Subramony, S. H., Das, S. S., Vig, P. J. S., Mandel, J., Fischbeck, K. H., & Pittman, R. N. (1997) · Neuron · doi:10.1016/s0896-6273(00)80943-5 · Cited by 830
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
Zu, T., Liu, Y., Báñez-Coronel, M., Reid, T. S., Pletniková, O., Lewis, J. M., Miller, T. M., Harms, M. B., Falchook, A. E., Subramony, S. H., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1315438110 · Cited by 777
Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin [published erratum appears in Hum Mol Genet 1999 May;8(5):943]
Schilling, G. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.3.397 · Cited by 772
Spinocerebellar ataxia
Klockgether, T., Mariotti, C., & Paulson, H. L. (2019) · Nature Reviews Disease Primers · doi:10.1038/s41572-019-0074-3 · Cited by 749
A Muscleblind Knockout Model for Myotonic Dystrophy
Kanadia, R. N., Johnstone, K. A., Mankodi, A., Lungu, C., Thornton, C. A., Esson, D., Timmers, A. M., Hauswirth, W. W., & Swanson, M. S. (2003) · Science · doi:10.1126/science.1088583 · Cited by 743
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
Mizielinska, S., Grönke, S., Niccoli, T., Ridler, C. E., Clayton, E. L., Devoy, A., Moens, T., Norona, F. E., Woollacott, I. O. C., Pietrzyk, J., et al. (2014) · Science · doi:10.1126/science.1256800 · Cited by 740
Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG Repeat
Mankodi, A. K., Logigian, E. L., Callahan, L. M., McClain, C., White, R. J., Henderson, D., Krym, M., & Thornton, C. A. (2000) · Science · doi:10.1126/science.289.5485.1769 · Cited by 738
C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles
Lee, K., Zhang, P., Kim, H. J., Mitrea, D. M., Sarkar, M., Freibaum, B. D., Cika, J., Coughlin, M., Messing, J., Molliex, A., et al. (2016) · Cell · doi:10.1016/j.cell.2016.10.002 · Cited by 691
DNA methylation represses FMR-1 transcription in fragile X syndrome
Sutcliffe, J. S., Nelson, D. L., Zhang, F., Pieretti, M., Caskey, C. T., Saxe, D., & Warren, S. T. (1992) · Human Molecular Genetics · doi:10.1093/hmg/1.6.397 · Cited by 680
Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion
Sareen, D., O’Rourke, J. G., Meera, P., Muhammad, A. K. M. G., Grant, S., Simpkinson, M., Bell, S., Carmona, S., Ornelas, L., Sahabian, A., et al. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3007529 · Cited by 670
Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease
Lee, J.-M., Wheeler, V. C., Chao, M. J., Vonsattel, J. P. G., Pinto, R. M., Lucente, D., Abu-Elneel, K., Ramos, E. M., Mysore, J. S., Gillis, T., et al. (2015) · Cell · doi:10.1016/j.cell.2015.07.003 · Cited by 655
Full-Length Human Mutant Huntingtin with a Stable Polyglutamine Repeat Can Elicit Progressive and Selective Neuropathogenesis in BACHD Mice
Gray, M., Shirasaki, D., Cepeda, C., André, V., Wilburn, B., Lu, X.-H., Tao, J., Yamazaki, I., Li, S.-H., Sun, Y. E., et al. (2008) · Journal of Neuroscience · doi:10.1523/jneurosci.0857-08.2008 · Cited by 642
A point mutation in the FMR-1 gene associated with fragile X mental retardation
Boulle, K. D., Verkerk, A. J. M. H., Reyniers, E., Vits, L., Hendrickx, J., Roy, B. V., Bos, F. V. D., de Graaff, E., Oostra, B. A., & Willems, P. J. (1993) · Nature Genetics · doi:10.1038/ng0193-31 · Cited by 624
Intragenic tandem repeats generate functional variability
Verstrepen, K. J., Jansen, A., Lewitter, F., & Fink, G. R. (2005) · Nature Genetics · doi:10.1038/ng1618 · Cited by 616
A marker X chromosome.
Lubs, H. A. (1969) · PubMed · Cited by 610
Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues.
Taneja, K. L., McCurrach, M. E., Schalling, M., Housman, D. E., & Singer, R. H. (1995) · The Journal of Cell Biology · doi:10.1083/jcb.128.6.995 · Cited by 599
Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS
Jovičić, A., Mertens, J., Boeynaems, S., Bogaert, E., Chai, N., Yamada, S. B., Paul, J. W., Sun, S., Herdy, J. R., Bieri, G., et al. (2015) · Nature Neuroscience · doi:10.1038/nn.4085 · Cited by 598
Phase transitions of multivalent proteins can promote clustering of membrane receptors
Banjade, S., & Rosen, M. K. (2014) · eLife · doi:10.7554/elife.04123 · Cited by 578
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yau, W. Y., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0372-4 · Cited by 575
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
Gendron, T. F., Bieniek, K. F., Zhang, Y., Jansen‐West, K. R., Ash, P. E. A., Caulfield, T. R., Daughrity, L. M., Dunmore, J., Castanedes‐Casey, M., Chew, J., et al. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1192-8 · Cited by 569
Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons
Shi, Y., Lin, S., Staats, K. A., Li, Y., Chang, W.-H., Hung, S.-T., Hendricks, E., Linares, G. R., Wang, Y., Son, E. Y., et al. (2018) · Nature Medicine · doi:10.1038/nm.4490 · Cited by 566
Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death
Wen, X., Tan, W., Westergard, T., Krishnamurthy, K., Markandaiah, S. S., Shi, Y., Lin, S., Shneider, N. A., Monaghan, J., Pandey, U. B., et al. (2014) · Neuron · doi:10.1016/j.neuron.2014.12.010 · Cited by 533
Molecular Mechanisms of Fragile X Syndrome: A Twenty-Year Perspective
Santoro, M. R., Bray, S. M., & Warren, S. T. (2012) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-011811-132457 · Cited by 528
Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene
Liu, X. S., Wu, H., Krzisch, M., Wu, X., Graef, J. D., Muffat, J., Hnisz, D., Li, C. H., Yuan, B., Xu, C., et al. (2018) · Cell · doi:10.1016/j.cell.2018.01.012 · Cited by 520
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
Sone, J., Mitsuhashi, S., Fujita, A., Mizuguchi, T., Hamanaka, K., Mori, K., Koike, H., Hashiguchi, A., Takashima, H., Sugiyama, H., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0459-y · Cited by 498
Repeat expansion disease: progress and puzzles in disease pathogenesis
Spada, A. R. L., & Taylor, J. P. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2748 · Cited by 497
Transcriptome-wide Regulation of Pre-mRNA Splicing and mRNA Localization by Muscleblind Proteins
Wang, E. T., Cody, N. A. L., Jog, S., Biancolella, M., Wang, T. T., Treacy, D. J., Luo, S., Schroth, G. P., Housman, D. E., Reddy, S., et al. (2012) · Cell · doi:10.1016/j.cell.2012.06.041 · Cited by 490
Self-citation
Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic
Lee, Y., Chen, H.-J., Peres, J., Gómez-Deza, J., Attig, J., Štalekar, M., Troakes, C., Nishimura, A. L., Scotter, E. L., Vance, C. A., et al. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.10.049 · Cited by 487
CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome
Todd, P. K., Oh, S. Y., Krans, A., He, F., Sellier, C., Frazer, M. A., Renoux, A. J., Chen, K.-C., Scaglione, K. M., Basrur, V., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.03.026 · Cited by 485
Self-citation
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
Mori, K., Arzberger, T., Grässer, F. A., Gijselinck, I., May, S., Rentzsch, K., Weng, S., Schludi, M. H., van der Zee, J., Cruts, M., et al. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1189-3 · Cited by 482
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE
Martin, J. P., & Bell, J. (1943) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.6.3-4.154 · Cited by 481
Testosterone Reduction Prevents Phenotypic Expression in a Transgenic Mouse Model of Spinal and Bulbar Muscular Atrophy
Katsuno, M., Adachi, H., Kume, A., Li, M., Nakagomi, Y., Niwa, H., Sang, C., Kobayashi, Y., Doyu, M., & Sobue, G. (2002) · Neuron · doi:10.1016/s0896-6273(02)00834-6 · Cited by 474
Tandem repeats mediating genetic plasticity in health and disease
Hannan, A. J. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.115 · Cited by 446
Equilibrium distributions of microsatellite repeat length resulting from a balance between slippage events and point mutations
Kruglyak, S., Durrett, R. T., Schug, M. D., & Aquadro, C. F. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.18.10774 · Cited by 438
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
Ishiura, H., Shibata, S., Yoshimura, J., Suzuki, Y., Qü, W., Doi, K., Almansour, M. A., Kikuchi, J. K., Taira, M., Mitsui, J., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0458-z · Cited by 435
Repeat instability as the basis for human diseases and as a potential target for therapy
López Castel, A., Cleary, J. D., & Pearson, C. E. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2854 · Cited by 429
Repeat expansion diseases
Paulson, H. L. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63233-3.00009-9 · Cited by 426
Emerging Roles for Intermolecular RNA-RNA Interactions in RNP Assemblies
Treeck, B. V., & Parker, R. (2018) · Cell · doi:10.1016/j.cell.2018.07.023 · Cited by 415
In Situ Structure of Neuronal C9orf72 Poly-GA Aggregates Reveals Proteasome Recruitment
Guo, Q., Lehmer, C., Martínez-Sánchez, A., Rudack, T., Beck, F., Hartmann, H., Pérez‐Berlanga, M., Frottin, F., Hipp, M. S., Hartl, F. U., et al. (2018) · Cell · doi:10.1016/j.cell.2017.12.030 · Cited by 404
Non-AUG translation: a new start for protein synthesis in eukaryotesPreprint
Kearse, M. G., & Wilusz, J. E. (2017) · Genes & Development · doi:10.1101/gad.305250.117 · Cited by 398
Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS
Prudencio, M., Belzil, V., Batra, R., Ross, C. A., Gendron, T. F., Pregent, L., Murray, M. E., Overstreet, K., Johnston, A., Desaro, P., et al. (2015) · Nature Neuroscience · doi:10.1038/nn.4065 · Cited by 396
The GAA Triplet-Repeat Expansion in Friedreich Ataxia Interferes with Transcription and May Be Associated with an Unusual DNA Structure
Bidichandani, S. I., Ashizawa, T., & Patel, P. I. (1998) · The American Journal of Human Genetics · doi:10.1086/301680 · Cited by 381
Unstable Tandem Repeats in Promoters Confer Transcriptional Evolvability
Vinces, M. D., Legendre, M., Caldara, M., Hagihara, M., & Verstrepen, K. J. (2009) · Science · doi:10.1126/science.1170097 · Cited by 372
Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy
Kanadia, R., Shin, J., Yuan, Y., Beattie, S. G., Wheeler, T. M., Thornton, C. A., & Swanson, M. S. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0604970103 · Cited by 372
Ectopically Expressed CAG Repeats Cause Intranuclear Inclusions and a Progressive Late Onset Neurological Phenotype in the Mouse
Ordway, J. M., Tallaksen‐Greene, S. J., Gutekunst, C., Bernstein, E. M., Cearley, J. A., Wiener, H. W., Dure, L. S., Lindsey, R., Hersch, S. M., Jope, R. S., et al. (1997) · Cell · doi:10.1016/s0092-8674(00)80464-x · Cited by 370
ALS Genetics: Gains, Losses, and Implications for Future Therapies
Kim, G., Gautier, O., Tassoni-Tsuchida, E., Ma, X. R., & Gitler, A. D. (2020) · Neuron · doi:10.1016/j.neuron.2020.08.022 · Cited by 370
Identification of the gene FMR2, associated with FRAXE mental retardation
Gécz, J., Gedeon, Á. K., Sutherland, G. R., & Mulley, J. C. (1996) · Nature Genetics · doi:10.1038/ng0596-105 · Cited by 357
Polyglutamine tracts regulate beclin 1-dependent autophagy
Ashkenazi, A., Bento, C. F., Ricketts, T., Vicinanza, M., Siddiqi, F., Pavel, M., Squitieri, F., Hardenberg, M. C., Imarisio, S., Menzies, F. M., et al. (2017) · Nature · doi:10.1038/nature22078 · Cited by 357
RAN Translation in Huntington Disease
Báñez-Coronel, M., Ayhan, F., Tarabochia, A. D., Zu, T., Pérez, B., Tusi, S. K., Pletniková, O., Borchelt, D., Ross, C. A., Margolis, R. L., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.10.038 · Cited by 353
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
Mori, K., Lammich, S., Mackenzie, I. R., Forné, I., Zilow, S., Kretzschmar, H. A., Edbauer, D., Janssens, J., Kleinberger, G., Cruts, M., et al. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1088-7 · Cited by 348
In Situ Architecture and Cellular Interactions of PolyQ Inclusions
Bäuerlein, F. J. B., Saha, I., Mishra, A., Kalemanov, M., Martínez-Sánchez, A., Klein, R., Dudanova, I., Hipp, M. S., Hartl, F. U., Baumeister, W. P., et al. (2017) · Cell · doi:10.1016/j.cell.2017.08.009 · Cited by 347
Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress
Zhang, Y., Jansen‐West, K. R., Xu, Y.-F., Gendron, T. F., Bieniek, K. F., Lin, W.-L., Sasaguri, H., Caulfield, T. R., Hubbard, J., Daughrity, L. M., et al. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1336-5 · Cited by 346
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
Fratta, P., Mizielinska, S., Nicoll, A. J., Zloh, M., Fisher, E., Parkinson, G. N., & Isaacs, A. M. (2012) · Scientific Reports · doi:10.1038/srep01016 · Cited by 345
Polyglutamine neurodegeneration: protein misfolding revisited
Williams, A. J., & Paulson, H. L. (2008) · Trends in Neurosciences · doi:10.1016/j.tins.2008.07.004 · Cited by 342
RNA-Binding Proteins hnRNP A2/B1 and CUGBP1 Suppress Fragile X CGG Premutation Repeat-Induced Neurodegeneration in a Drosophila Model of FXTAS
Sofola-Adesakin, O., Jin, P., Qin, Y., Duan, R., Liu, H., de Haro, M., Nelson, D. L., & Botas, J. (2007) · Neuron · doi:10.1016/j.neuron.2007.07.021 · Cited by 336
Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
Cooper‐Knock, J., Walsh, M. J., Higginbottom, A., Highley, J. R., Dickman, M. J., Edbauer, D., Ince, P. G., Wharton, S. B., Wilson, S. A., Kirby, J., et al. (2014) · Brain · doi:10.1093/brain/awu120 · Cited by 335
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
Ishiura, H., Doi, K., Mitsui, J., Yoshimura, J., Matsukawa, M. K., Fujiyama, A., Toyoshima, Y., Kakita, A., Takahashi, H., Suzuki, Y., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0067-2 · Cited by 330
Genome-wide profiling of heritable and de novo STR variations
Willems, T., Zielinski, D., Yuan, J., Gordon, A., Gymrek, M., & Erlich, Y. (2017) · Nature Methods · doi:10.1038/nmeth.4267 · Cited by 329
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
Tian, Y., Wang, J., Huang, W., Zeng, S., Jiao, B., Liu, Z., Zhao, C. N., Li, Y., Wang, Y. X., Min, H., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.05.013 · Cited by 328
ATAXIN-1 Interacts with the Repressor Capicua in Its Native Complex to Cause SCA1 Neuropathology
Lam, Y. C., Bowman, A. B., Jafar-Nejad, P., Lim, J., Richman, R., Fryer, J. D., Hyun, E. D., Duvick, L. A., Orr, H. T., Botas, J., et al. (2006) · Cell · doi:10.1016/j.cell.2006.11.038 · Cited by 326
A Liquid to Solid Phase Transition Underlying Pathological Huntingtin Exon1 Aggregation
Peskett, T. R., Rau, F., O’Driscoll, J., Patani, R., Lowe, A. R., & Saibil, H. R. (2018) · Molecular Cell · doi:10.1016/j.molcel.2018.04.007 · Cited by 325
The Disease-associated r(GGGGCC) Repeat from the C9orf72 Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures
Reddy, K., Zamiri, B., Stanley, S. Y., Macgregor, R. B., & Pearson, C. E. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.c113.452532 · Cited by 318
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
Mizielinska, S., Lashley, T., Norona, F. E., Clayton, E. L., Ridler, C. E., Fratta, P., & Isaacs, A. M. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1200-z · Cited by 317
C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration
May, S., Hornburg, D., Schludi, M. H., Arzberger, T., Rentzsch, K., Schwenk, B. M., Grässer, F. A., Mori, K., Kremmer, E., Banzhaf‐Strathmann, J., et al. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1329-4 · Cited by 317
RNA toxicity is a component of ataxin-3 degeneration in Drosophila
Li, L.-B., Yu, Z., Teng, X., & Bonini, N. M. (2008) · Nature · doi:10.1038/nature06909 · Cited by 316
Sticky DNA
Sakamoto, N., Chastain, P. D., Parniewski, P., Ohshima, K., Pandolfo, M., Griffith, J. D., & Wells, R. D. (1999) · Molecular Cell · doi:10.1016/s1097-2765(00)80474-8 · Cited by 313
Polyglutamine Repeats in Neurodegenerative Diseases
Lieberman, A. P., Shakkottai, V. G., & Albin, R. L. (2018) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathmechdis-012418-012857 · Cited by 313
Pur α Binds to rCGG Repeats and Modulates Repeat-Mediated Neurodegeneration in a Drosophila Model of Fragile X Tremor/Ataxia Syndrome
Jin, P., Duan, R., Qurashi, A., Qin, Y., Tian, D., Rosser, T. C., Liu, H., Feng, Y., & Warren, S. T. (2007) · Neuron · doi:10.1016/j.neuron.2007.07.020 · Cited by 312
Serine 776 of Ataxin-1 Is Critical for Polyglutamine-Induced Disease in SCA1 Transgenic Mice
Emamian, E. S., Kaytor, M. D., Duvick, L. A., Zu, T., Tousey, S. K., Zoghbi, H. Y., Clark, H. B., & Orr, H. T. (2003) · Neuron · doi:10.1016/s0896-6273(03)00258-7 · Cited by 305
Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis
Zhang, Y., Gendron, T. F., Ebbert, M., O’Raw, A. D., Yue, M., Jansen‐West, K. R., Zhang, X., Prudencio, M., Chew, J., Cook, C. N., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0071-1 · Cited by 299
Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome
Colak, D., Zaninović, N., Cohen, M. S., Rosenwaks, Z., Yang, W.-Y., Gerhardt, J., Disney, M. D., & Jaffrey, S. R. (2014) · Science · doi:10.1126/science.1245831 · Cited by 294
Loss of MBNL Leads to Disruption of Developmentally Regulated Alternative Polyadenylation in RNA-Mediated Disease
Batra, R., Charizanis, K., Manchanda, M., Mohan, A., Li, M., Finn, D. J., Goodwin, M., Zhang, C., Sobczak, K., Thornton, C. A., et al. (2014) · Molecular Cell · doi:10.1016/j.molcel.2014.08.027 · Cited by 292
On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability
Khristich, A. N., & Mirkin, S. M. (2020) · Journal of Biological Chemistry · doi:10.1074/jbc.rev119.007678 · Cited by 289
Developmental Study of Fragile X Syndrome Using Human Embryonic Stem Cells Derived from Preimplantation Genetically Diagnosed Embryos
Eiges, R., Urbach, A., Malcov, M., Frumkin, T., Schwartz, T., Amit, A., Yaron, Y., Eden, A., Yanuka, O., Benvenisty, N., et al. (2007) · Cell stem cell · doi:10.1016/j.stem.2007.09.001 · Cited by 287
Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion
Xi, Z., Zinman, L. H., Moreno, D., Schymick, J. C., Liang, Y., Sato, C., Zheng, Y., Ghani, M., Dib, S., Keith, J. L., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.04.017 · Cited by 281
The impact of short tandem repeat variation on gene expression
Feupe, S. F., Margoliash, J., Wang, C., Saini, S., Yanicky, R., Shleizer-Burko, S., Goren, A., & Gymrek, M. (2019) · Nature Genetics · doi:10.1038/s41588-019-0521-9 · Cited by 279
The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains
Conlon, E. G., Lü, L., Sharma, A., Yamazaki, T., Tang, T. K. K., Shneider, N. A., & Manley, J. L. (2016) · eLife · doi:10.7554/elife.17820 · Cited by 277
Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
Thornton, C. A., Johnson, K. J., & Moxley, R. T. (1994) · Annals of Neurology · doi:10.1002/ana.410350116 · Cited by 274
Two ZBP1 KH domains facilitate β-actin mRNA localization, granule formation, and cytoskeletal attachment
Farina, K. L., Hüttelmaier, S., Musunuru, K., Darnell, R. B., & Singer, R. H. (2002) · The Journal of Cell Biology · doi:10.1083/jcb.200206003 · Cited by 271
Disruption of RNA Metabolism in Neurological Diseases and Emerging Therapeutic Interventions
Nussbacher, J. K., Tabet, R., Yeo, G. W.-M., & Lagier‐Tourenne, C. (2019) · Neuron · doi:10.1016/j.neuron.2019.03.014 · Cited by 271
The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD
Freibaum, B. D., & Taylor, J. P. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00035 · Cited by 263
Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome
Sellier, C., Freyermuth, F., Tabet, R., Tran, T., He, F., Ruffenach, F., Alunni, V., Moine, H., Thibault-Carpentier, C., Page, A., et al. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.02.004 · Cited by 263
Self-citation
Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD
Boeynaems, S., Bogaert, E., Michiels, E., Gijselinck, I., Sieben, A., Jovičić, A., De Baets, G., Scheveneels, W., Steyaert, J., Cuijt, I., et al. (2016) · Scientific Reports · doi:10.1038/srep20877 · Cited by 262
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
Rafehi, H., Szmulewicz, D. J., Bennett, M. F., Sobreira, N. L. M., Pope, K., Smith, K. R., Gillies, G., Diakumis, P., Dolzhenko, E., Eberle, M. A., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.05.016 · Cited by 262
Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
Gu, Y., Shen, Y. H., Gibbs, R. A., & Nelson, D. L. (1996) · Nature Genetics · doi:10.1038/ng0596-109 · Cited by 256
Distal Alternative Last Exons Localize mRNAs to Neural Projections
Taliaferro, J. M., Vidaki, M., Oliveira, R., Olson, S., Zhan, L., Saxena, T., Wang, E. T., Graveley, B. R., Gertler, F. B., Swanson, M. S., et al. (2016) · Molecular Cell · doi:10.1016/j.molcel.2016.01.020 · Cited by 254
Self-citation
Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches
Pinto, R. M., Dragileva, E., Kirby, A., Lloret, A., Lopez, E., St. Claire, J., Panigrahi, G. B., Hou, C., Holloway, K., Gillis, T., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003930 · Cited by 250
Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR
Tian, B., White, R. J., Xia, T., Welle, S. L., Turner, D. H., Mathews, M. B., & Thornton, C. A. (2000) · RNA · doi:10.1017/s1355838200991544 · Cited by 249
Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity
Tao, Z., Wang, H., Qin, X., Li, K., Li, K., Jiang, X., Xu, G., Wang, G., & Ying, Z. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv005 · Cited by 247
Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome
Sellier, C., Buijsen, R. A. M., He, F., Natla, S., Jung, L., Tropel, P., Gaucherot, A., Jacobs, H., Méziane, H., Vincent, A., et al. (2017) · Neuron · doi:10.1016/j.neuron.2016.12.016 · Cited by 246
Self-citation
Cellular toxicity of expanded RNA repeats: focus on RNA foci
Wojciechowska, M., & Krzyżosiak, W. J. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr299 · Cited by 244
Raising the estimate of functional human sequences: Figure 1.Preprint
Pheasant, M., & Mattick, J. S. (2007) · Genome Research · doi:10.1101/gr.6406307 · Cited by 243
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
on behalf of the BELNEU CONSORTIUM, Gijselinck, I., Van Mossevelde, S., van der Zee, J., Sieben, A., Engelborghs, S., De Bleecker, J., Ivanoiu, A., Deryck, O., Edbauer, D., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.159 · Cited by 242
Genome-wide detection of tandem DNA repeats that are expanded in autism
Trost, B., Engchuan, W., Nguyen, C. M., Thiruvahindrapuram, B., Dolzhenko, E., Backstrom, I., Mirceta, M., Mojarad, B. A., Yin, Y., Dov, A., et al. (2020) · Nature · doi:10.1038/s41586-020-2579-z · Cited by 238
Transcription-Associated R-Loop Formation across the Human FMR1 CGG-Repeat Region
Loomis, E. W., Sanz, L. A., Chedin, F. L., & Hagerman, P. J. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004294 · Cited by 237
The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients
Neueder, A., Landles, C., Ghosh, R., Howland, D., Myers, R. H., Faull, R. L. M., Tabrizi, S. J., & Bates, G. P. (2017) · Scientific Reports · doi:10.1038/s41598-017-01510-z · Cited by 235
Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers
Mackenzie, I. R. A., Frick, P., Grässer, F. A., Gendron, T. F., Petrucelli, L., Cashman, N. R., Edbauer, D., Kremmer, E., Prudlo, J., Troost, D., et al. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1476-2 · Cited by 231
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases
Bettencourt, C., Hensman‐Moss, D., Flower, M., Wiethoff, S., Brice, A., Goizet, C., Stevanin, G., Koutsis, G., Karadima, G., Panas, M., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24656 · Cited by 227
DNA instability in postmitotic neurons
Gonitel, R., Moffitt, H., Sathasivam, K., Woodman, B., Detloff, P., Faull, R., & Bates, G. (2008) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.0800048105 · Cited by 225
RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response
Green, K. M., Glineburg, M. R., Kearse, M. G., Flores, B. N., Linsalata, A. E., Fedak, S., Goldstrohm, A. C., Barmada, S. J., & Todd, P. K. (2017) · Nature Communications · doi:10.1038/s41467-017-02200-0 · Cited by 221
Self-citation
Fragile X syndrome without CCG amplification has an FMR1 deletion
Gedeon, Á. K., Baker, E., Robinson, H., Partington, M. W., Gross, B., Manca, A., Korn, B., Poustka, A., Yu, S., Sutherland, G. R., et al. (1992) · Nature Genetics · doi:10.1038/ng0892-341 · Cited by 220
Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72
Zhu, Q., Jiang, J., Gendron, T. F., McAlonis-Downes, M., Jiang, L., Taylor, A., Diaz Garcia, S., Ghosh Dastidar, S., Rodriguez, M. J., King, P., et al. (2020) · Nature Neuroscience · doi:10.1038/s41593-020-0619-5 · Cited by 220
Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1)
Heatwole, C. R., Bode, R. K., Johnson, N. E., Quinn, C. M., Martens, W. B., McDermott, M., Rothrock, N. E., Thornton, C. A., Vickrey, B. G., Victorson, D. E., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e318260cbe6 · Cited by 213
Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity
Zhang, Y., Guo, L. E., Gonzales, P. K., Gendron, T. F., Wu, Y., Jansen‐West, K. R., O’Raw, A. D., Pickles, S. R., Prudencio, M., Carlomagno, Y., et al. (2019) · Science · doi:10.1126/science.aav2606 · Cited by 211
Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS
Tran, H., Almeida, S., Moore, J. E., Gendron, T. F., Chalasani, U., Lu, Y., Du, X., Nickerson, J. A., Petrucelli, L., Weng, Z., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.09.015 · Cited by 204
Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference
de Mezer, M., Wojciechowska, M., Напиерала, М., Sobczak, K., & Krzyżosiak, W. J. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkq1323 · Cited by 203
Histone Modifications Depict an Aberrantly Heterochromatinized FMR1 Gene in Fragile X Syndrome
Coffee, B. W., Zhang, F. P., Ceman, S., Warren, S. T., & Reines, D. (2002) · The American Journal of Human Genetics · doi:10.1086/342931 · Cited by 202
R loops stimulate genetic instability of CTG·CAG repeats
Lin, Y., Dent, S., Wilson, J. H., Wells, R. D., & Напиерала, М. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0909740107 · Cited by 199
C9ORF72 GGGGCC repeat-associated non-AUG translation is upregulated by stress through eIF2α phosphorylation
Cheng, W., Wang, S., Mestre, A. A., Fu, C., Makarem, A. O., Xian, F., Hayes, L. R., Lopez-Gonzalez, R., Drenner, K., Jiang, J., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-02495-z · Cited by 199
In Vitro Reactivation of the FMR1 Gene Involved in Fragile X Syndrome
Chiurazzi, P., Pomponi, M. G., Willemsen, R., Oostra, B. A., & Neri, G. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.1.109 · Cited by 198
Patterns of de novo tandem repeat mutations and their role in autism
Mitra, I., Huang, B., Mousavi, N., Ma, N., Lamkin, M., Yanicky, R., Shleizer-Burko, S., Lohmueller, K. E., & Gymrek, M. (2021) · Nature · doi:10.1038/s41586-020-03078-7 · Cited by 194
Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target
Krzyżosiak, W. J., Sobczak, K., Wojciechowska, M., Fiszer, A., Mykowska, A., & Kozłowski, P. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr729 · Cited by 191
Somatic instability of CTG repeat in myotonic dystrophy
Ashizawa, T., Dubel, J., & Harati, Y. (1993) · Neurology · doi:10.1212/wnl.43.12.2674 · Cited by 190
The structural basis of myotonic dystrophy from the crystal structure of CUG repeats
Mooers, B. H. M., Logue, J. S., & Berglund, J. A. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0505873102 · Cited by 187
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination
Brown, L. Y. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.8.791 · Cited by 182
Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy
Cooper‐Knock, J., Higginbottom, A., Stopford, M. J., Highley, J. R., Ince, P. G., Wharton, S. B., Pickering-Brown, S. M., Kirby, J., Hautbergue, G. M., & Shaw, P. J. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1429-9 · Cited by 181
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
Liu, E. Y., Russ, J., Wu, K., Neal, D., Suh, E., McNally, A. G., Irwin, D. J., Van Deerlin, V. M., & Lee, E. B. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1286-y · Cited by 180
CAG repeats mimic CUG repeats in the misregulation of alternative splicing
Mykowska, A., Sobczak, K., Wojciechowska, M., Kozłowski, P., & Krzyżosiak, W. J. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr608 · Cited by 178
CGG Repeat-Associated Non-AUG Translation Utilizes a Cap-Dependent Scanning Mechanism of Initiation to Produce Toxic Proteins
Kearse, M. G., Green, K. M., Krans, A., Rodriguez, C. M., Linsalata, A. E., Goldstrohm, A. C., & Todd, P. K. (2016) · Molecular Cell · doi:10.1016/j.molcel.2016.02.034 · Cited by 178
Self-citation
CUGBP1 and MBNL1 preferentially bind to 3′ UTRs and facilitate mRNA decay
Masuda, A., Andersen, H. S., Doktor, T. K., Okamoto, T., Ito, M., Andresen, B. S., & Ohno, K. (2012) · Scientific Reports · doi:10.1038/srep00209 · Cited by 174
The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis
Farg, M. A., Konopka, A., Soo, K. Y., Ito, D., & Atkin, J. D. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx170 · Cited by 173
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2
Jones, C., Penny, L., Mattina, T., Yu, S., Baker, E. G., Voullaire, L. E., Langdon, W. Y., Sutherland, G. N., Richards, R. I., & Tunnacliffe, A. (1995) · Nature · doi:10.1038/376145a0 · Cited by 168
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2
(1995) · Trends in Genetics · doi:10.1016/0168-9525(95)90521-9 · Cited by 167
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Florian, R. T., Kraft, F., Leitão, E., Kaya, S., Klebe, S., Magnin, É., van Rootselaar, A., Buratti, J., Kühnel, T., Schröder, C., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-12763-9 · Cited by 166
Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation
Kanekura, K., Yagi, T., Cammack, A. J., Mahadevan, J., Kuroda, M., Harms, M. B., Miller, T. M., & Urano, F. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw052 · Cited by 165
Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans
Quilez, J., Guilmatre, A., Garg, P., Highnam, G., Gymrek, M., Erlich, Y., Joshi, R. S., Mittelman, D., & Sharp, A. J. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw219 · Cited by 164
A genomic view of short tandem repeats
Gymrek, M. (2017) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2017.01.012 · Cited by 162
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Corbett, M. A., Kroes, T., Veneziano, L., Bennett, M. F., Florian, R. T., Schneider, A., Coppola, A., Licchetta, L., Franceschetti, S., Suppa, A., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-12671-y · Cited by 159
Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases
Boivin, M., Deng, J., Pfister, V., Grandgirard, E., Oulad‐Abdelghani, M., Morlet, B., Ruffenach, F., Négroni, L., Koebel, P., Jacob, H., et al. (2021) · Neuron · doi:10.1016/j.neuron.2021.03.038 · Cited by 157
Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS
Yamakawa, M., Ito, D., Honda, T., Kubo, K., Noda, M., Nakajima, K., & Suzuki, N. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu576 · Cited by 154
Polyglutamine neurodegenerative diseases and regulation of transcription: assembling the puzzlePreprint
Riley, B. E., & Orr, H. T. (2006) · Genes & Development · doi:10.1101/gad.1436506 · Cited by 151
Degeneration of the Cerebellum in H untington's Disease ( HD ): Possible Relevance for the Clinical Picture and Potential Gateway to Pathological Mechanisms of the Disease Process
Rüb, U., Hoche, F., Brunt, E. R. P., Heinsen, H., Seidel, K., Turco, D. D., Paulson, H. L., Böhl, J., von Gall, C., Vonsattel, J., et al. (2012) · Brain Pathology · doi:10.1111/j.1750-3639.2012.00629.x · Cited by 150
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo
Nakamori, M., Panigrahi, G. B., Lanni, S., Gall-Duncan, T., Hayakawa, H., Tanaka, H., Luo, J., Otabe, T., Li, J., Sakata, A., et al. (2020) · Nature Genetics · doi:10.1038/s41588-019-0575-8 · Cited by 150
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
Seixas, A. I., Loureiro, J. R., Costa, C., Ordóñez‐Ugalde, A., Marcelino, H., Oliveira, C. L., Loureiro, J. L., Dhingra, A., Brandão, E., Cruz, V. T., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.06.007 · Cited by 149
Cytoplasmic retention of polyglutamine-expanded androgen receptor ameliorates disease via autophagy in a mouse model of spinal and bulbar muscular atrophy
Montie, H. L., Cho, M. S., Holder, L., Liu, Y., Tsvetkov, A. S., Finkbeiner, S. M., & Merry, D. E. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp115 · Cited by 147
Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity
Palazzolo, I., Burnett, B. G., Young, J. E., Brenne, P. L., Spada, A. R. L., Fischbeck, K. H., Howell, B. W., & Pennuto, M. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm109 · Cited by 147
RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2
Zu, T., Cleary, J. D., Liu, Y., Báñez-Coronel, M., Bubenik, J. L., Ayhan, F., Ashizawa, T., Xia, G., Clark, H. B., Yachnis, A. T., et al. (2017) · Neuron · doi:10.1016/j.neuron.2017.08.039 · Cited by 147
SCA1-like Disease in Mice Expressing Wild-Type Ataxin-1 with a Serine to Aspartic Acid Replacement at Residue 776
Duvick, L., Barnes, J., Ebner, B., Agrawal, S., Andresen, M., Lim, J., Giesler, G. J., Zoghbi, H. Y., & Orr, H. T. (2010) · Neuron · doi:10.1016/j.neuron.2010.08.022 · Cited by 145
CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts
Tabet, R., Schaeffer, L., Freyermuth, F., Jambeau, M., Workman, M. J., Lee, C.-Z., Lin, C.-C., Jiang, J., Jansen‐West, K. R., Hamdan, H. A., et al. (2018) · Nature Communications · doi:10.1038/s41467-017-02643-5 · Cited by 144
Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases
Pearson, C. E. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.7.1117 · Cited by 144
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients
Xi, Z., Zhang, M., Bruni, A. C., Maletta, R., Colao, R., Fratta, P., Polke, J. M., Sweeney, M. G., Mudanohwo, E. E., Nacmias, B., et al. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1401-8 · Cited by 143
Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats
Reddy, K., Tam, M., Bowater, R. P., Barber, M., Tomlinson, M. J., Edamura, K. N., Wang, Y., & Pearson, C. E. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq935 · Cited by 140
SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits
Hautbergue, G. M., Castelli, L. M., Ferraiuolo, L., Sánchez-Martínez, Á., Cooper‐Knock, J., Higginbottom, A., Lin, Y.-H., Bauer, C. S., Dodd, J. E., Myszczynska, M. A., et al. (2017) · Nature Communications · doi:10.1038/ncomms16063 · Cited by 140
Auto-regulatory feedback by RNA-binding proteins
Müller-McNicoll, M., Roßbach, O., Hui, J., & Medenbach, J. (2019) · Journal of Molecular Cell Biology · doi:10.1093/jmcb/mjz043 · Cited by 140
Noncanonical Translation Initiation in EukaryotesPreprint
Kwan, T., & Thompson, S. R. (2018) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a032672 · Cited by 139
CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation
Cheng, W., Wang, S., Zhang, Z., Morgens, D. W., Hayes, L. R., Lee, S., Portz, B., Xie, Y., Nguyen, B. V., Haney, M. S., et al. (2019) · Neuron · doi:10.1016/j.neuron.2019.09.003 · Cited by 138
Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31
Ishiguro, T., Sato, N. J., Ueyama, M., Fujikake, N., Sellier, C., Kanegami, A., Tokuda, E., Zamiri, B., Gall-Duncan, T., Mirceta, M., et al. (2017) · Neuron · doi:10.1016/j.neuron.2017.02.046 · Cited by 138
FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions
Yang, D., Abdallah, A., Li, Z., Lu, Y., Almeida, S., & Gao, F. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1448-6 · Cited by 137
Polyglutamine domain flexibility mediates the proximity between flanking sequences in huntingtin
Caron, N. S., Desmond, C. R., Xia, J., & Truant, R. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1301342110 · Cited by 137
Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation
Punga, T., & Bühler, M. (2010) · EMBO Molecular Medicine · doi:10.1002/emmm.201000064 · Cited by 136
Metformin inhibits RAN translation through PKR pathway and mitigates disease in C9orf72 ALS/FTD mice
Zu, T., Guo, S., Bardhi, O., Ryskamp, D. A., Li, J., Khoramian Tusi, S., Engelbrecht, A., Klippel, K., Chakrabarty, P., Nguyen, L., et al. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2005748117 · Cited by 133
Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier
Russ, J., Liu, E. Y., Wu, K., Neal, D., Suh, E. R., Irwin, D. J., McMillan, C. T., Harms, M. B., Cairns, N. J., Wood, E. M., et al. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1365-0 · Cited by 127
Repeat‐associated non‐AUG translation in C9orf72‐ALS/FTD is driven by neuronal excitation and stress
Westergard, T., McAvoy, K., Russell, K. A., Wen, X., Pang, Y., Verdone, B. M., Pasinelli, P., Trotti, D., & Haeusler, A. R. (2019) · EMBO Molecular Medicine · doi:10.15252/emmm.201809423 · Cited by 126
RNA Droplets
Rhine, K., Vidaurre, V., & Myong, S. (2020) · Annual Review of Biophysics · doi:10.1146/annurev-biophys-052118-115508 · Cited by 126
Intron retention induced by microsatellite expansions as a disease biomarker
Sznajder, Ł. J., Thomas, J. D., Carrell, E. M., Reid, T. S., McFarland, K. N., Cleary, J. D., Oliveira, R., Nutter, C. A., Bhatt, K. S., Sobczak, K., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1716617115 · Cited by 123
Transcriptome alterations in myotonic dystrophy skeletal muscle and heart
Wang, E. T., Treacy, D. J., Eichinger, K. J., Struck, A. J., Estabrook, J., Olafson, H. R., Wang, T. T., Bhatt, K. S., Westbrook, T., Sedehizadeh, S., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy432 · Cited by 122
Self-citation
Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
Davidson, Y. S., Barker, H., Robinson, A., Thompson, J. C., Harris, J., Troakes, C., Smith, B. N., Al‐Saraj, S., Shaw, C. E., Rollinson, S. J., et al. (2014) · Acta Neuropathologica Communications · doi:10.1186/2051-5960-2-70 · Cited by 120
Epigenetic Silencing in Friedreich Ataxia Is Associated with Depletion of CTCF (CCCTC-Binding Factor) and Antisense Transcription
Biase, I. D., Chutake, Y. K., Rindler, P. M., & Bidichandani, S. I. (2009) · PLoS ONE · doi:10.1371/journal.pone.0007914 · Cited by 120
TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4
Yeetong, P., Pongpanich, M., Srichomthong, C., Assawapitaksakul, A., Shotelersuk, V., Tantirukdham, N., Chunharas, C., Suphapeetiporn, K., & Shotelersuk, V. (2019) · Brain · doi:10.1093/brain/awz267 · Cited by 118
A modifier of Huntington's disease onset at the MLH1 locus
Lee, J., Chao, M. J., Harold, D. H., Elneel, K. A., Gillis, T., Holmans, P., Jones, L., Orth, M., Myers, R. H., Kwak, S., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx286 · Cited by 117
Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability
Reddy, K., Schmidt, M. H. M., Geist, J. M., Thakkar, N., Panigrahi, G. B., Wang, Y., & Pearson, C. E. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku658 · Cited by 116
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Reversible Disruption of Dynactin 1-Mediated Retrograde Axonal Transport in Polyglutamine-Induced Motor Neuron Degeneration
Katsuno, M., Adachi, H., Minamiyama, M., Waza, M., Tokui, K., Banno, H., Suzuki, K., Onoda, Y., Tanaka, F., Doyu, M., et al. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.3032-06.2006 · Cited by 114
Mutations in ARX result in several defects involving GABAergic neurons
Friocourt, G. (2010) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2010.00004 · Cited by 113
RNA association and nucleocytoplasmic shuttling by ataxin-1
Irwin, S., van Delft, M. F., Pinchev, D., Howell, J. L., Graczyk, J., Orr, H. T., & Truant, R. (2004) · Journal of Cell Science · doi:10.1242/jcs.01611 · Cited by 113
Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress
Sonobe, Y., Ghadge, G. D., Masaki, K., Sendoel, A., Fuchs, E. V., & Roos, R. P. (2018) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.05.009 · Cited by 105
Motor dysfunction and neurodegeneration in a C9orf72 mouse line expressing poly-PR
Hao, Z., Liu, L., Tao, Z., Wang, R., Ren, H., Sun, H., Lin, Z., Zhang, Z., Mu, C., Zhou, J., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10956-w · Cited by 104
RNA toxicity and foci formation in microsatellite expansion diseases
Zhang, N., & Ashizawa, T. (2017) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2017.01.005 · Cited by 102
RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats
Yamada, S. B., Gendron, T. F., Niccoli, T., Genuth, N. R., Grosely, R., Shi, Y., Glaria, I., Kramer, N. J., Nakayama, L., Fang, S., et al. (2019) · Nature Neuroscience · doi:10.1038/s41593-019-0455-7 · Cited by 102
The central role of DNA damage and repair in CAG repeat diseases
Massey, T. H., & Jones, L. (2018) · Disease Models & Mechanisms · doi:10.1242/dmm.031930 · Cited by 101
Repeat-associated non-ATG (RAN) translation
Cleary, J. D., Pattamatta, A., & Ranum, L. P. W. (2018) · Journal of Biological Chemistry · doi:10.1074/jbc.r118.003237 · Cited by 100
GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function
Burguete, A. S., Almeida, S., Gao, F., Kalb, R. G., Akins, M. R., & Bonini, N. M. (2015) · eLife · doi:10.7554/elife.08881 · Cited by 98
Repeat Expansion Affects Both Transcription Initiation and Elongation in Friedreich Ataxia Cells
Kumari, D., Biacsi, R. E., & Usdin, K. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.194035 · Cited by 98

Research works printed but not linked: 1

Wells, R. D. & Ashizawa, T. Genetic Instabilities and Neurological Diseases. (Elsevier, 2006).

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See all 363

Authors: Malik, I., Kelley, C. P., Wang, E. T., & Todd, P. K.
Affiliations: University of Michigan (US)
University of Florida (US)
Corresponding author: Todd, Peter K.
ORCID: Malik, Indranil
Kelley, Chase P.
Wang, Eric T.
Todd, Peter K.
Venue: Nature Reviews Molecular Cell Biology
Publisher: Springer Science and Business Media LLC
Published: 2021-06-17
Volume: 22
Issue: 9
Pages: 589-607
ISSN: 1471-0072 (ISSN-L)
1471-0080
DOI: 10.1038/s41580-021-00382-6
PMC: PMC9612635
OpenAlex: W3170696603
Cited by: 363
References: 286
Citations by year: 2026: 71 · 2025: 77 · 2024: 92 · 2023: 66 · 2022: 48 · 2021: 9
FWCI: 8.06
Type: journal article
Language: en
Update notices: correction (2021-07-06)
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Reviews Molecular Cell Biology (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: U.S. Department of Veterans Affairs (I01 BX004842)
National Institute on Aging (R01AG058636)
National Institute of Neurological Disorders and Stroke (R01NS112291, R01NS086810, R01NS114253, R01NS099280)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD104463)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: microsatellite markers, C9orf72, amyotrophic lateral sclerosis, frontotemporal dementia, Huntington's disease, myotonic dystrophy, fragile X syndrome, transcriptional repression, repeat-associated non-AUG translation, age of onset, tissue specificity, therapeutic target
MeSH terms: R-Loop Structures, Animals, Humans, Mutation, Organ Specificity, RNA, Protein Biosynthesis, RNA-Binding Proteins, Neurodegenerative Diseases, Gene Silencing, DNA Repeat Expansion, Genomic Instability

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Molecular mechanisms underlying nucleotide repeat expansion disorders

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