Molecular mechanisms underlying nucleotide repeat expansion disorders

Malik, Indranil; Kelley, Chase P.; Wang, Eric T.; Todd, Peter K.

doi:10.1038/s41580-021-00382-6

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

Molecular mechanisms underlying nucleotide repeat expansion disorders

Open access

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

Open this paper in CoChat — free account

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.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1038/s41580-021-00382-6

Cites

280 of 280 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

ALS is characterized by aberrant RNA processing and nucleocytoplasmic transport defects, which are often linked to mutations in C9orf72 and other RNA-binding proteins.
“Furthermore, ALS is characterized by aberrant RNA processing and nucleocytoplasmic transport defects, which are often linked to mutations in C9orf72 and other RNA-binding proteins.193”
From Antiageing strategy for neurodegenerative diseases: from mechanisms to clinical advances (2025) · cites this paper as [193]

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

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 · see citing works
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 · see citing works
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 · see citing works
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 3,281 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 1,594 · see citing works
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 · see citing works
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 1,327 · see citing works
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 · see citing works
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 · see citing works
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 1,230 · see citing works
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 1,079 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
The Biology of Huntingtin
Saudou, F., & Humbert, S. (2016) · Neuron · doi:10.1016/j.neuron.2016.02.003 · Cited by 945 · see citing works
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 · see citing works
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 · see citing works
RNA phase transitions in repeat expansion disorders
(2017) · doi:10.1038/nature22386 · Cited by 911 · see citing works
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 904 · see citing works
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 · see citing works
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 755 · see citing works
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 748 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Spinocerebellar ataxia
Klockgether, T., Mariotti, C., & Paulson, H. L. (2019) · Nature Reviews Disease Primers · doi:10.1038/s41572-019-0074-3 · Cited by 714 · see citing works
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. A., Molliex, A., et al. (2016) · Cell · doi:10.1016/j.cell.2016.10.002 · Cited by 687 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 616 · see citing works
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 · see citing works
A marker X chromosome.
Lubs, H. A. (1969) · PubMed · Cited by 610 · see citing works
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 · see citing works
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 · see citing works
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 589 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 513 · see citing works
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 506 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 479 · see citing works
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 · see citing works
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 471 · see citing works
Self-citation
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 · see citing works
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 · see citing works
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 433 · see citing works
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 · see citing works
Repeat expansion diseases
Paulson, H. L. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63233-3.00009-9 · Cited by 426 · see citing works
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 · see citing works
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 393 · see citing works
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 382 · see citing works
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 · see citing works
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 381 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 356 · see citing works
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 349 · see citing works
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 339 · see citing works
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 · see citing works
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 335 · see citing works
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 335 · see citing works
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 · see citing works
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 328 · see citing works
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 · see citing works
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 · see citing works
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 322 · see citing works
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 321 · see citing works
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 320 · see citing works
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 · see citing works
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 · see citing works
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 314 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 302 · see citing works
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 299 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 288 · see citing works
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 · see citing works
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 279 · see citing works
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 · see citing works
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 · see citing works
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 271 · see citing works
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 267 · see citing works
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 264 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 253 · see citing works
Self-citation
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 251 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Self-citation
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 · see citing works
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 240 · see citing works
Self-citation
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 239 · see citing works
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 · see citing works
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 235 · see citing works
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 · see citing works
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 233 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 222 · see citing works
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 · see citing works
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 · see citing works
Transcription-Associated R-Loop Formation across the Human FMR1 CGG-Repeat Region
Loomis, E. W., Sanz, L. A., Chédin, F., & Hagerman, P. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004294 · Cited by 217 · see citing works
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 · see citing works
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 203 · see citing works
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 202 · see citing works
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 200 · see citing works
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 · see citing works
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 196 · see citing works
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 195 · see citing works
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 · see citing works
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 193 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Self-citation
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 175 · see citing works
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 · see citing works
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 171 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 163 · see citing works
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 163 · see citing works
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 · see citing works
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 158 · see citing works
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 154 · see citing works
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 151 · see citing works
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 · see citing works
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 148 · see citing works
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 · see citing works
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 · see citing works
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 147 · see citing works
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 146 · see citing works
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 · see citing works
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 145 · see citing works
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 · see citing works
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., Abou‐Hamdan, H., et al. (2018) · Nature Communications · doi:10.1038/s41467-017-02643-5 · Cited by 143 · see citing works
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 141 · see citing works
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 · see citing works
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 · see citing works
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 138 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 136 · see citing works
Noncanonical Translation Initiation in EukaryotesPreprint
Kwan, T., & Thompson, S. R. (2018) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a032672 · Cited by 136 · see citing works
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 134 · see citing works
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 · see citing works
RNA Droplets
Rhine, K., Vidaurre, V., & Myong, S. (2020) · Annual Review of Biophysics · doi:10.1146/annurev-biophys-052118-115508 · Cited by 130 · see citing works
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 128 · see citing works
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 128 · see citing works
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 · see citing works
Self-citation
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 121 · see citing works
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 118 · see citing works
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 · see citing works
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 · see citing works
Inactivation of hnRNP K by Expanded Intronic AUUCU Repeat Induces Apoptosis Via Translocation of PKCδ to Mitochondria in Spinocerebellar Ataxia 10
White, M. C., Gao, R., Xu, W., Mandal, S. M., Lim, J. G., Hazra, T. K., Wakamiya, M., Edwards, S. F., Raskin, S., Teive, H. A. G., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000984 · Cited by 115 · see citing works
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 115 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 112 · see citing works
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 111 · see citing works
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 111 · see citing works
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 102 · see citing works
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 · see citing works
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 100 · see citing works
CGG repeat RNA G-quadruplexes interact with FMRpolyG to cause neuronal dysfunction in fragile X-related tremor/ataxia syndrome
Asamitsu, S., Yabuki, Y., Ikenoshita, S., Kawakubo, K., Kawasaki, M., Usuki, S., Nakayama, Y., Adachi, K., Kugoh, H., Ishii, K., et al. (2021) · Science Advances · doi:10.1126/sciadv.abd9440 · Cited by 97 · see citing works
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 96 · see citing works
RADIOSENSITIVITY IN HUNTINGTON'S DISEASE: IMPLICATIONS FOR PATHOGENESIS AND PRESYMPTOMATIC DIAGNOSIS
Moshell, A. N., Barrett, S. F., Tarone, R. E., & Robbins, J. H. (1980) · The Lancet · doi:10.1016/s0140-6736(80)90550-4 · Cited by 95 · see citing works
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 95 · see citing works

Flagged first, then by citations

6 of the 286 references couldn’t be matched to a known paper.

Research works printed but not linked: 1

[17]Wells RD & Ashizawa T Genetic Instabilities and Neurological Diseases (Elsevier, 2006).

Sorted by citations

Walking a tightrope: The complex balancing act of R-loops in genome stability
Brickner, J. R., Garzon, J. L., & Cimprich, K. A. (2022) · Molecular Cell · doi:10.1016/j.molcel.2022.04.014 · Cited by 235 · see citing works
The molecular basis of translation initiation and its regulation in eukaryotes
Querido, J. B., Díaz‐López, I., & Ramakrishnan, V. (2023) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-023-00624-9 · Cited by 238 · see citing works
Dynamic alternative DNA structures in biology and disease
Wang, G., & Vasquez, K. M. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-022-00539-9 · Cited by 196 · see citing works
“For example, expansion of CAG repeats within coding regions of genes leads to stretches of polyglutamine (polyQ) in the resulting proteins, contributing to more than 20 neurodegenerative and neuromuscular diseases, including Huntington disease, spinal and bulbar muscular atrophy, dentatorubral-pallidoluysian atrophy a…”
Background
Repetitive DNA sequence detection and its role in the human genome
Liao, X., Zhu, W., Zhou, J., Li, H., Xu, X., Zhang, B., & Gao, X. (2023) · Communications Biology · doi:10.1038/s42003-023-05322-y · Cited by 180 · see citing works
Molecular mechanisms of circular RNA translation
Hwang, H. J., & Kim, Y. K. (2024) · Experimental & Molecular Medicine · doi:10.1038/s12276-024-01220-3 · Cited by 170 · see citing works
Antiageing strategy for neurodegenerative diseases: from mechanisms to clinical advances
Jiang, Q., Liu, J., Huang, S., Wang, X.-Y., Chen, X., Liu, G.-H., Ye, K., Song, W., Masters, C. L., Wang, J., et al. (2025) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-025-02145-7 · Cited by 165 · see citing works
Methylation across the central dogma in health and diseases: new therapeutic strategies
Liu, R., Zhao, E., Yu, H., Yuan, C., Abbas, M. N., & Cui, H. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01528-y · Cited by 147 · see citing works
RNA-driven phase transitions in biomolecular condensates
Wadsworth, G. M., Srinivasan, S., Lai, L. B., Datta, M., Gopalan, V., & Banerjee, P. R. (2024) · Molecular Cell · doi:10.1016/j.molcel.2024.09.005 · Cited by 131 · see citing works
Mendelian inheritance revisited: dominance and recessiveness in medical genetics
Zschocke, J., Byers, P. H., & Wilkie, A. O. M. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-023-00574-0 · Cited by 103 · see citing works
Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications
Rajan‐Babu, I., Dolzhenko, E., Eberle, M. A., & Friedman, J. M. (2024) · Nature Reviews Genetics · doi:10.1038/s41576-024-00696-z · Cited by 93 · see citing works
m1A in CAG repeat RNA binds to TDP-43 and induces neurodegeneration
Sun, Y., Dai, H., Dai, X., Yin, J., Cui, Y., Liu, X., Gonzalez, G. M., Yuan, J. J., Tang, F., Wang, N., et al. (2023) · Nature · doi:10.1038/s41586-023-06701-5 · Cited by 83 · see citing works
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation
Tassone, F., Protic, D. D., Allen, E. G., Archibald, A. D., Baud, A., Brown, T. W., Budimirovic, D. B., Cohen, J., Dufour, B. D., Eiges, R., et al. (2023) · Cells · doi:10.3390/cells12182330 · Cited by 76 · see citing works
Self-citation
Dissolution of oncofusion transcription factor condensates for cancer therapy
Wang, Y., Yu, C., Pei, G., Jia, W., Li, T., & Li, P. (2023) · Nature Chemical Biology · doi:10.1038/s41589-023-01376-5 · Cited by 75 · see citing works
Negative autoregulation mitigates collateral RNase activity of repeat-targeting CRISPR-Cas13d in mammalian cells
Kelley, C. P., Haerle, M. C., & Wang, E. T. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111226 · Cited by 61 · see citing works
Self-citation
De novo mutations, genetic mosaicism and human disease
Mohiuddin, M., Kooy, R. F., & Pearson, C. E. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.983668 · Cited by 66 · see citing works
Uninterrupted CAG repeat drives striatum-selective transcriptionopathy and nuclear pathogenesis in human Huntingtin BAC mice
Gu, X., Richman, J., Langfelder, P., Wang, N., Zhang, S., Báñez-Coronel, M., Wang, H. B., Yang, L., Ramanathan, L., Deng, L., et al. (2022) · Neuron · doi:10.1016/j.neuron.2022.01.006 · Cited by 64 · see citing works
RFC1 -Related Disease
Davies, K. C., Szmulewicz, D. J., Corben, L. A., Delatycki, M. B., & Lockhart, P. J. (2022) · Neurology Genetics · doi:10.1212/nxg.0000000000200016 · Cited by 59 · see citing works
Causes, functions, and therapeutic possibilities of RNA secondary structure ensembles and alternative states
Bose, R., Saleem, I., & Mustoe, A. M. (2024) · Cell chemical biology · doi:10.1016/j.chembiol.2023.12.010 · Cited by 56 · see citing works
CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model
Yu, J., Liufu, T., Zheng, Y., Xu, J. H., Meng, L., Zhang, W. Y., Yuan, Y., Hong, D., Charlet‐Berguerand, N., Wang, Z., et al. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2208649119 · Cited by 57 · see citing works
Site-specific R-loops induce CGG repeat contraction and fragile X gene reactivation
Lee, H.-G., Imaichi, S., Kraeutler, E. B., Aguilar, R., Lee, Y.-W., Sheridan, S. D., & Lee, J. T. (2023) · Cell · doi:10.1016/j.cell.2023.04.035 · Cited by 57 · see citing works
An RNA-centric view of transcription and genome organization
Henninger, J. E., & Young, R. A. (2024) · Molecular Cell · doi:10.1016/j.molcel.2024.08.021 · Cited by 56 · see citing works
Polymorphic short tandem repeats make widespread contributions to blood and serum traits
Margoliash, J., Fuchs, S., Li, Y., Zhang, X., Massarat, A. R., Goren, A., & Gymrek, M. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100458 · Cited by 51 · see citing works
Myotonic Dystrophies: A Genetic Overview
Soltanzadeh, P. (2022) · Genes · doi:10.3390/genes13020367 · Cited by 52 · see citing works
Clinical and mechanism advances of neuronal intranuclear inclusion disease
Liu, Y., Li, H., Liu, X., Wang, B., Yang, H., Wan, B., Sun, M., & Xu, X. (2022) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2022.934725 · Cited by 47 · see citing works
CGG repeats trigger translational frameshifts that generate aggregation-prone chimeric proteins
Wright, S. E., Rodriguez, C. M., Monroe, J. G., Xing, J., Krans, A., Flores, B. N., Barsur, V., Ivanova, M. I., Koutmou, K. S., Barmada, S. J., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac626 · Cited by 44 · see citing works
Self-citation
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology
Benkirane, M., da Cunha, D., Marelli, C., Larrieu, L., Renaud, M., Varilh, J., Pointaux, M., Baux, D., Ardouin, O., Goethem, C. V., et al. (2022) · Brain · doi:10.1093/brain/awac280 · Cited by 42 · see citing works
Native functions of short tandem repeats
Wright, S. E., & Todd, P. K. (2023) · eLife · doi:10.7554/elife.84043 · Cited by 43 · see citing works
Self-citation
Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?
Boivin, M., & Charlet‐Berguerand, N. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.843014 · Cited by 41 · see citing works
Megabase-scale human genome rearrangement with programmable bridge recombinases
Perry, N. T., Bartie, L. J., Katrekar, D., Gonzalez, G. A., Durrant, M. G., Pai, J. J., Fanton, A., Martins, J. Q., Hiraizumi, M., Ricci-Tam, C., et al. (2025) · Science · doi:10.1126/science.adz0276 · Cited by 41 · see citing works
GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy
Zeng, Y., Yang, K., Du, G., Chen, Y., Cao, C., Qiu, Y., He, J., Lv, H., Qu, Q., Chen, J., et al. (2022) · Annals of Neurology · doi:10.1002/ana.26436 · Cited by 41 · see citing works
The HNRNPF /H RNA binding proteins and disease
Brownmiller, T., & Caplen, N. J. (2023) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1788 · Cited by 40 · see citing works
Homotypic RNA clustering accompanies a liquid-to-solid transition inside the core of multi-component biomolecular condensates
(2025) · doi:10.1038/s41557-025-01847-3 · Cited by 40 · see citing works
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
Henden, L., Fearnley, L. G., Grima, N., McCann, E. P., Dobson‐Stone, C., Fitzpatrick, L., Friend, K. L., Hobson, L., Fat, S. C. M., Rowe, D. B., et al. (2023) · Science Advances · doi:10.1126/sciadv.ade2044 · Cited by 39 · see citing works
RNA and condensates: Disease implications and therapeutic opportunities
Han, T. W., Portz, B., Young, R. A., Boija, A., & Klein, I. A. (2024) · Cell chemical biology · doi:10.1016/j.chembiol.2024.08.009 · Cited by 38 · see citing works
Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine
Snyder, H., Jain, P., RamachandranNair, R., Jones, K., & Whitney, R. (2024) · Genes · doi:10.3390/genes15030266 · Cited by 38 · see citing works
The polyG diseases: a new disease entity
Liufu, T., Zheng, Y., Yu, J., Yuan, Y., Wang, Z., Deng, J., & Hong, D. (2022) · Acta Neuropathologica Communications · doi:10.1186/s40478-022-01383-y · Cited by 36 · see citing works
GGC repeat expansion in NOTCH2NLC induces dysfunction in ribosome biogenesis and translation
Fan, Y., Li, M., Yang, H. J., Li, S.-J., Hao, X., Li, J.-D., Wang, Y.-C., Tang, M., Zhang, C., Shi, J., et al. (2023) · Brain · doi:10.1093/brain/awad058 · Cited by 34 · see citing works
Satellite RNAs: emerging players in subnuclear architecture and gene regulation
Ninomiya, K., Yamazaki, T., & Hirose, T. (2023) · The EMBO Journal · doi:10.15252/embj.2023114331 · Cited by 32 · see citing works
Genetic modifiers of repeat expansion disorders
Rajagopal, S., Donaldson, J., Flower, M. D., Moss, D. J. H., & Tabrizi, S. J. (2023) · Emerging Topics in Life Sciences · doi:10.1042/etls20230015 · Cited by 32 · see citing works
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection
Malekshoar, M., Azimi, S. A., Kaki, A., Mousazadeh, L., Motaei, J., & Vatankhah, M. (2023) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2023.01.010 · Cited by 32 · see citing works
Nanomaterials‐Based Targeting of Long Non‐Coding RNAs in Cancer: A Cutting‐Edge Review of Current Trends
Davodabadi, F., Far, B. F., Sargazi, S., Sajjadi, S. F., Fathi‐karkan, S., Mirinejad, S., Ghotekar, S. K., Sargazi, S., & Rahman, M. M. (2024) · ChemMedChem · doi:10.1002/cmdc.202300528 · Cited by 30 · see citing works
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Cortese, A., Beecroft, S. J., Facchini, S., Curró, R., Cabrera‐Serrano, M., Stevanovski, I., Chintalaphani, S. R., Gamaarachchi, H., Weisburd, B., Folland, C. L., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-49950-2 · Cited by 30 · see citing works
Repeat expansion disorders
Chen, Z., Morris, H. R., Polke, J. M., Wood, N. W., Gandhi, S., Ryten, M., Houlden, H., & Tucci, A. (2024) · Practical Neurology · doi:10.1136/pn-2023-003938 · Cited by 30 · see citing works
CAG repeat mosaicism is gene specific in spinocerebellar ataxias
Kacher, R., Lejeune, F., David, I., Boluda, S., Coarelli, G., Leclère-Turbant, S., Heinzmann, A., Marelli, C., Charles, P., Goizet, C., et al. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.03.015 · Cited by 28 · see citing works
Current advances in neuronal intranuclear inclusion disease
Bao, L., Zuo, D., Li, Q., Chen, H., & Cui, G. (2023) · Neurological Sciences · doi:10.1007/s10072-023-06677-0 · Cited by 27 · see citing works
Aberrant Phase Separation is a Common Killing Strategy of Positively Charged Peptides in Biology and Human DiseasePreprint
Boeynaems, S., Ma, X. R., Yeong, V., Ginell, G. M., Chen, J.-H., Blum, J. A., Nakayama, L., Sanyal, A., Briner, A., Haver, D. V., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.03.09.531820 · Cited by 24 · see citing works
Structural investigation of pathogenic RFC1 AAGGG pentanucleotide repeats reveals a role of G-quadruplex in dysregulated gene expression in CANVAS
Wang, Y., Wang, J., Yan, Z., Hou, J., Wan, L., Yang, Y., Liu, Y., Yi, J., Guo, P., & Han, D. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkae032 · Cited by 26 · see citing works
‘Longing’ for the Next Generation of Liquid Biopsy: The Diagnostic Potential of Long Cell-Free DNA in Oncology and Prenatal Testing
Yu, S. C. Y., Choy, L. Y. L., & Lo, Y. M. D. (2023) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-023-00661-2 · Cited by 25 · see citing works
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis
Vegezzi, E., Ishiura, H., Bragg, D. C., Pellerin, D., Magrinelli, F., Curró, R., Facchini, S., Tucci, A., Hardy, J., Sharma, N., et al. (2024) · The Lancet Neurology · doi:10.1016/s1474-4422(24)00167-4 · Cited by 25 · see citing works
Biomolecular condensates and disease pathogenesis
Ruan, K., Bai, G., Fang, Y., Li, D., Li, T., Liu, X., Lu, B., Lü, Q., Songyang, Z., Sun, S., et al. (2024) · Science China Life Sciences · doi:10.1007/s11427-024-2661-3 · Cited by 27 · see citing works
Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats
Tseng, Y., Krans, A., Malik, I., Deng, X., Yildirim, E., Övünç, S. S., Tank, E. M. H., Jansen‐West, K. R., Kaufhold, R. T., Gómez, N., et al. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkae137 · Cited by 24 · see citing works
Self-citation
Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategies
Leitão, E., Schröder, C., & Depienne, C. (2024) · Revue Neurologique · doi:10.1016/j.neurol.2024.03.005 · Cited by 24 · see citing works
Collective homeostasis of condensation-prone proteins via their mRNAs
(2025) · doi:10.1038/s41586-025-09568-w · Cited by 24 · see citing works
Singling out motor neurons in the age of single-cell transcriptomics
Blum, J. A., & Gitler, A. D. (2022) · Trends in Genetics · doi:10.1016/j.tig.2022.03.016 · Cited by 22 · see citing works
Repeat-associated non-AUG translation induces cytoplasmic aggregation of CAG repeat-containing RNAs
Das, M. R., Chang, Y., Anderson, R., Saunders, R. A., Zhang, N., Tomberlin, C., Vale, R. D., & Jain, A. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2215071120 · Cited by 24 · see citing works
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci
Fazal, S., Danzi, M. C., Xu, I. R. L., Kobren, S. N., Sunyaev, S. R., Reuter, C. M., Marwaha, S., Wheeler, M. T., Dolzhenko, E., Lucas, F., et al. (2024) · Genome biology · doi:10.1186/s13059-024-03171-4 · Cited by 24 · see citing works
The evolution and application of RNA-focused small molecule libraries
Taghavi, A., Springer, N. A., Zanon, P. R. A., Li, Y., Li, C., Childs‐Disney, J. L., & Disney, M. D. (2025) · RSC Chemical Biology · doi:10.1039/d4cb00272e · Cited by 25 · see citing works
Insights into DNA repeat expansions among 900,000 biobank participants
Hujoel, M. L. A., Handsaker, R. E., Tang, D. S.-H., Kamitaki, N., Mukamel, R. E., Rubinacci, S., Palamara, P. F., McCarroll, S. A., & Loh, P. (2026) · Nature · doi:10.1038/s41586-025-09886-z · Cited by 23 · see citing works
Neurodegenerative Diseases and Cholesterol: Seeing the Field Through the Players
Pfrieger, F. W. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.766587 · Cited by 22 · see citing works
DNA-initiated Epigenetic Cascades Driven by C9orf72 Hexanucleotide Repeat
Liu, Y., Huang, Z.-Y., Liu, H., Ji, Z.-C., Arora, A., Cai, D., Wang, H., Liu, M., Simko, E. A. J., Zhang, Y., et al. (2023) · Neuron · doi:10.1016/j.neuron.2023.01.022 · Cited by 20 · see citing works
Proteostasis and Ribostasis Impairment as Common Cell Death Mechanisms in Neurodegenerative Diseases
Lim, S. M., Nahm, M., & Kim, S. H. (2023) · Journal of Clinical Neurology · doi:10.3988/jcn.2022.0379 · Cited by 23 · see citing works
C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies
Zampatti, S., Peconi, C., Campopiano, R., Gambardella, S., Caltagirone, C., & Giardina, E. (2022) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2022.907122 · Cited by 22 · see citing works
Oculopharyngodistal myopathy
Yu, J., Deng, J., & Wang, Z. (2022) · Current Opinion in Neurology · doi:10.1097/wco.0000000000001089 · Cited by 22 · see citing works
RPTRF: A rapid perfect tandem repeat finder tool for DNA sequences
Behboudi, R., Nouri-Baygi, M., & Naghibzadeh, M. (2023) · Biosystems · doi:10.1016/j.biosystems.2023.104869 · Cited by 22 · see citing works
Pathogenic CANVAS-causing but not nonpathogenic RFC1 DNA/RNA repeat motifs form quadruplex or triplex structures
Abdi, M. H., Zamiri, B., Pazuki, G., Sardari, S., & Pearson, C. E. (2023) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2023.105202 · Cited by 22 · see citing works
SUMO protease FUG1, histone reader AL3 and chromodomain protein LHP1 are integral to repeat expansion-induced gene silencing in Arabidopsis thaliana
Sureshkumar, S., Bandaranayake, C., Lv, J., Dent, C., Bhagat, P. K., Mukherjee, S., Sarwade, R. D., Atri, C., York, H. M., Tamizhselvan, P., et al. (2024) · Nature Plants · doi:10.1038/s41477-024-01672-5 · Cited by 22 · see citing works
Revisiting tandem repeats in psychiatric disorders from perspectives of genetics, physiology, and brain evolution
Xiao, X., Zhang, C., Zhang, Z., Hu, Z., Li, M., & Li, T. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01329-1 · Cited by 21 · see citing works
RNA structure promotes liquid-to-solid phase transition of short RNAs in neuronal dysfunction
Wang, S., & Xu, Y. (2024) · Communications Biology · doi:10.1038/s42003-024-05828-z · Cited by 21 · see citing works
The molecular pathogenesis of repeat expansion diseases
Fujino, Y., & Nagai, Y. (2021) · Biochemical Society Transactions · doi:10.1042/bst20200143 · Cited by 20 · see citing works
Partners in crime: Proteins implicated in RNA repeat expansion diseases
Baud, A., Derbis, M., Tutak, K., & Sobczak, K. (2022) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1709 · Cited by 20 · see citing works
Pathophysiological Role and Diagnostic Potential of R-Loops in Cancer and Beyond
Khan, E. S., & Danckwardt, S. (2022) · Genes · doi:10.3390/genes13122181 · Cited by 20 · see citing works
FUS regulates RAN translation through modulating the G-quadruplex structure of GGGGCC repeat RNA in C9orf72-linked ALS/FTD
Fujino, Y., Ueyama, M., Ishiguro, T., Ozawa, D., Ito, H., Sugiki, T., Murata, A., Ishiguro, A., Gendron, T. F., Mori, K., et al. (2023) · eLife · doi:10.7554/elife.84338 · Cited by 20 · see citing works
Genomic and transcriptomic advances in amyotrophic lateral sclerosis
Rizzuti, M., Sali, L., Melzi, V., Scarcella, S., Costamagna, G., Ottoboni, L., Quetti, L., Brambilla, L., Papadimitriou, D. A., Verde, F., et al. (2023) · Ageing Research Reviews · doi:10.1016/j.arr.2023.102126 · Cited by 22 · see citing works
The pan-tandem repeat map highlights multiallelic variants underlying gene expression and agronomic traits in rice
He, H., Leng, Y., Cao, X., Zhu, Y., Li, X., Yuan, Q., Zhang, B., He, W., Wei, H., Liu, X., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-51854-0 · Cited by 21 · see citing works
Non-canonical translation in cancer: significance and therapeutic potential of non-canonical ORFs, m6A-modification, and circular RNAs
Deng, X., Yu, Y. V., & Jin, Y. N. (2024) · Cell Death Discovery · doi:10.1038/s41420-024-02185-y · Cited by 22 · see citing works
Accelerated Simulations Reveal Physicochemical Factors Governing Stability and Composition of RNA Clusters
Aierken, D., & Joseph, J. A. (2024) · Journal of Chemical Theory and Computation · doi:10.1021/acs.jctc.4c00803 · Cited by 20 · see citing works
Ubiquitin system mutations in neurological diseases
Zenge, C., & Ordureau, A. (2024) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2024.06.011 · Cited by 19 · see citing works
Combined CRISPR toolkits reveal the domestication landscape and function of the ultra-long and highly repetitive silk genes
Lü, W., Ma, S., Sun, L., Zhang, T., Wang, X., Feng, M., Wang, A., Shi, R., Jia, L., & Xia, Q. (2023) · Acta Biomaterialia · doi:10.1016/j.actbio.2022.12.063 · Cited by 18 · see citing works
Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy
Bagga, P., Singh, S., Ram, G., Kapil, S., & Singh, A. (2024) · Frontiers in Neurology · doi:10.3389/fneur.2024.1368658 · Cited by 20 · see citing works
Mechanistic Convergence Across Initiation Sites for RAN Translation in Fragile X Associated Tremor Ataxia Syndrome
Zhang, Y., Glineburg, M. R., Basrur, V., Conlon, K. P., Wright, S. E., Krans, A., Hall, D. A., & Todd, P. K. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab353 · Cited by 19 · see citing works
Self-citation
Implications of Poly(A) Tail Processing in Repeat Expansion Diseases
Joachimiak, P., Ciesiołka, A., Figura, G., & Fiszer, A. (2022) · Cells · doi:10.3390/cells11040677 · Cited by 17 · see citing works
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping
Zarouchlioti, C., Efthymiou, S., Facchini, S., Dominik, N., Bhattacharyya, N., Liu, S., Costa, M. A., Szabó, A., Sadan, A. N., Jun, A. S., et al. (2024) · EBioMedicine · doi:10.1016/j.ebiom.2024.105328 · Cited by 17 · see citing works
Discovery of RNA-Reactive Small Molecules Guides the Design of Electrophilic Modules for RNA-Specific Covalent Binders
Springer, N. A., Zanon, P. R. A., Taghavi, A., Sung, K., & Disney, M. D. (2025) · Journal of the American Chemical Society · doi:10.1021/jacs.5c06802 · Cited by 17 · see citing works
Simple sequence repeats and their expansions: Role in plant development, environmental response and adaptation
Sureshkumar, S., Chhabra, A., Guo, Y., & Balasubramanian, S. (2025) · New Phytologist · doi:10.1111/nph.70173 · Cited by 16 · see citing works
Aberrant splicing exonizes C9orf72 repeat expansion in ALS/FTD
Yang, S., Wijegunawardana, D., Sheth, U., Veire, A. M., Salgado, J. M. S., Arab, T., Agrawal, M., Zhou, J., Pereira, J. D., Gendron, T. F., et al. (2025) · Nature Neuroscience · doi:10.1038/s41593-025-02039-5 · Cited by 16 · see citing works
Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability
Depienne, C., van den Maagdenberg, A. M. J. M., Kühnel, T., Ishiura, H., Corbett, M. A., & Tsuji, S. (2023) · Epilepsia · doi:10.1111/epi.17504 · Cited by 16 · see citing works
Mechanisms underlying phenotypic variation in neurogenetic disorders
Burgunder, J. (2023) · Nature Reviews Neurology · doi:10.1038/s41582-023-00811-4 · Cited by 16 · see citing works
Abnormal phase separation of biomacromolecules in human diseases
Zhang, S., Pei, G., Li, B., Li, P., & Lin, Y. (2023) · Acta Biochimica et Biophysica Sinica · doi:10.3724/abbs.2023139 · Cited by 18 · see citing works
HD and SCA1: Tales from two 30-year journeys since gene discovery
Thompson, L. M., & Orr, H. T. (2023) · Neuron · doi:10.1016/j.neuron.2023.09.036 · Cited by 16 · see citing works
Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson’s disease
Liu, P. F., Zhang, F., Chen, X., Zheng, X., Chen, M., Lin, Z., Chen, S., Wang, L., Wang, X., Jin, N., et al. (2025) · npj Parkinson s Disease · doi:10.1038/s41531-025-00868-6 · Cited by 16 · see citing works
Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins
Viera-Ortiz, A., Cajka, G. G., Olatunji, O. A., Mikytuck, B., Shalem, O., & Lee, E. B. (2022) · Brain · doi:10.1093/brain/awac479 · Cited by 16 · see citing works
Natural variation in C. elegans short tandem repeatsPreprint
Zhang, G., Wang, Y., & Andersen, E. C. (2022) · Genome Research · doi:10.1101/gr.277067.122 · Cited by 14 · see citing works
R-loops in neurodegeneration
Beghè, C., Harpham, H., Barberic, Y., & Gromak, N. (2025) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2025.102345 · Cited by 15 · see citing works
Polyglycine-mediated aggregation of FAM98B disrupts tRNA processing in GGC repeat disorders
Yang, J., Xu, Y., Ziehr, D. R., Taylor, M. S., Valenstein, M. L., Frenkel, E. M., Bush, J. R., Rutter, K., Stevanovski, I., Shi, C. Y., et al. (2025) · Science · doi:10.1126/science.ado2403 · Cited by 15 · see citing works
Overview of Methods for Large-Scale RNA Synthesis
Ryczek, M., Mateja-Pluta, M., Błaszczyk, L., & Kiliszek, A. (2022) · Applied Sciences · doi:10.3390/app12031543 · Cited by 15 · see citing works
Emerging Therapies for Huntington’s Disease – Focus on N-Terminal Huntingtin and Huntingtin Exon 1
van der Bent, M. L., Evers, M. M., & Vallès, A. (2022) · Biologics · doi:10.2147/btt.s270657 · Cited by 15 · see citing works
How does precursor RNA structure influence RNA processing and gene expression?
Herbert, A., Hatfield, A., & Lackey, L. (2023) · Bioscience Reports · doi:10.1042/bsr20220149 · Cited by 14 · see citing works
Nfeature: A platform for computing features of nucleotide sequencesPreprint
Mathur, M., Patiyal, S., Dhall, A., Jain, S., Tomer, R., Arora, A., & Raghava, G. P. S. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.12.14.472723 · Cited by 15 · see citing works
Repeat‐Associated Non‐ AUG Translation of AGAGGG Repeats that Cause X ‐Linked Dystonia‐Parkinsonism
Reyes, C. J., Asano, K., Todd, P. K., Klein, C., & Raković, A. (2022) · Movement Disorders · doi:10.1002/mds.29183 · Cited by 13 · see citing works
Self-citation
The unusual structural properties and potential biological relevance of switchback DNA
Madhanagopal, B. R., Talbot, H., Rodriguez, A., Louis, J. M., Zeghal, H., Vangaveti, S., Reddy, K., & Chandrasekaran, A. R. (2024) · Nature Communications · doi:10.1038/s41467-024-50348-3 · Cited by 14 · see citing works

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 › 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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Molecular mechanisms underlying nucleotide repeat expansion disorders

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Self-check

Cites

Cited by

Related

Record

About these checks