MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain
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For some neurological disorders, disease is primarily RNA mediated due to expression of non-coding microsatellite expansion RNAs (RNA(exp)). Toxicity is thought to result from enhanced binding of proteins to these expansions and depletion from their normal cellular targets. However, experimental evidence for this sequestration model is lacking. Here, we use HITS-CLIP and pre-mRNA processing analysis of human control versus myotonic dystrophy (DM) brains to provide compelling evidence for this RNA toxicity model. MBNL2 binds directly to DM repeat expansions in the brain, resulting in depletion from its normal RNA targets with downstream effects on alternative splicing and polyadenylation. Similar RNA processing defects were detected in Mbnl compound-knockout mice, highlighted by dysregulation of Mapt splicing and fetal tau isoform expression in adults. These results demonstrate that MBNL proteins are directly sequestered by RNA(exp) in the DM brain and introduce a powerful experimental tool to evaluate RNA-mediated toxicity in other expansion diseases.
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In myotonic dystrophy, CTG or CCTG repeat expansions in expressed RNAs sequester MBNL proteins from their normal binding sites, altering MBNL-dependent splicing patterns.
“In myotonic dystrophy, CTG or CCTG repeat expansions in expressed RNAs sequester MBNL proteins from their normal binding sites, altering MBNL-dependent splicing patterns101–105.”
From The neurogenetics of alternative splicing (2016) · cites this paper as [105]
MBNL activity controls alternative polyadenylation events.
“recent studies of Mbnl1/2 dKOs have highlighted MBNL activity in controlling alternative polyadenylation events105,107,108.”
From The neurogenetics of alternative splicing (2016) · cites this paper as [105]
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Zhang, Y., Chen, K., Sloan, S. A., Bennett, M. L., Scholze, A. R., O'Keeffe, S., Phatnani, H. P., Guarnieri, P., Caneda, C., Ruderisch, N., et al. (2014) · The Journal of Neuroscience · doi:10.1523/jneurosci.1860-14.2014 · Cited by 4,875 · see citing works
Self-citationArgonaute HITS-CLIP decodes microRNA–mRNA interaction maps
Chi, S. W., Zang, J. B., Mele, A., & Darnell, R. B. (2009) · Nature · doi:10.1038/nature08170 · Cited by 1,791 · 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
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
Self-citationNon-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
Self-citationRAN 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
Self-citationA 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
Self-citationMizielinska, 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
Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells
Kwon, I., Xiang, S., Kato, M., Wu, L. C., Theodoropoulos, P., Wang, T., Kim, J., Yun, J., Xie, Y., & McKnight, S. L. (2014) · Science · doi:10.1126/science.1254917 · Cited by 648 · see citing works
A quantitative atlas of polyadenylation in five mammalsPreprint
Derti, A., Garrett-Engele, P. W., MacIsaac, K. D., Stevens, R. C., Sriram, S., Chen, R., Rohl, C. A., Johnson, J. M., & Babak, T. (2012) · Genome Research · doi:10.1101/gr.132563.111 · Cited by 642 · see citing works
Variable tandem repeats accelerate evolution of coding and regulatory sequences
Gemayel, R., Vinces, M. D., Legendre, M., & Verstrepen, K. J. (2010) · Annual Review of Genetics · doi:10.1146/annurev-genet-072610-155046 · Cited by 633 · see citing works
Jiang, H. N., Mankodi, A. K., Swanson, M. S., Moxley, R. T., & Thornton, C. A. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh327 · Cited by 528 · see citing works
Self-citationWen, 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
Muscleblind proteins regulate alternative splicing
Ho, T. H., Charlet‐Berguerand, N., Poulos, M. G., Singh, G., Swanson, M. S., & Cooper, T. A. (2004) · The EMBO Journal · doi:10.1038/sj.emboj.7600300 · Cited by 494 · see citing works
Self-citationTranscriptome-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
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
Fardaei, M. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.7.805 · Cited by 464 · see citing works
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
Self-citationMori, 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
Charizanis, K., Lee, K.-Y., Batra, R., Goodwin, M., Zhang, C., Yuan, Y., Shiue, L., Cline, M., Scotti, M. M., Xia, G., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.05.029 · Cited by 324 · see citing works
Self-citationReddy, 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
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
Self-citationDysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1
Sergeant, N. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.19.2143 · Cited by 281 · see citing works
Self-citationMisregulation of miR-1 processing is associated with heart defects in myotonic dystrophy
Rau, F., Freyermuth, F., Fugier, C., Villemin, J.-P., Fischer, M., Jost, B., Dembélé, D., Gourdon, G., Nicole, A., Duboc, D., et al. (2011) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.2067 · Cited by 280 · see citing works
Self-citationThe Unstable Repeats—Three Evolving Faces of Neurological Disease
Nelson, D. L., Orr, H. T., & Warren, S. T. (2013) · Neuron · doi:10.1016/j.neuron.2013.02.022 · Cited by 200 · see citing works
Compound loss of muscleblind‐like function in myotonic dystrophy
Lee, K., Li, M., Manchanda, M., Batra, R., Charizanis, K., Mohan, A., Warren, S., Chamberlain, C. M., Finn, D., Hong, H., et al. (2013) · EMBO Molecular Medicine · doi:10.1002/emmm.201303275 · Cited by 190 · see citing works
Self-citationCLIP: Crosslinking and ImmunoPrecipitation of In Vivo RNA Targets of RNA-Binding Proteins
Jensen, K. B., & Darnell, R. B. (2008) · Methods in molecular biology · doi:10.1007/978-1-60327-475-3_6 · Cited by 143 · see citing works
OLego: fast and sensitive mapping of spliced mRNA-Seq reads using small seeds
Wu, J., Anczuków, O., Krainer, A. R., Zhang, M. Q., & Zhang, C. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt216 · Cited by 123 · see citing works
Self-citationRavel‐Chapuis, A., Bélanger, G., Yadava, R. S., Mahadevan, M. S., DesGroseillers, L., Côté, J., & Jasmin, B. J. (2012) · The Journal of Cell Biology · doi:10.1083/jcb.201108113 · Cited by 116 · see citing works
Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders
Cleary, J. D., & Ranum, L. P. W. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2014.03.002 · Cited by 111 · see citing works
Self-citationMuscleblind-Like 1 Knockout Mice Reveal Novel Splicing Defects in the Myotonic Dystrophy Brain
Suenaga, K., Lee, K., Nakamori, M., Tatsumi, Y., Takahashi, M. P., Fujimura, H., Jinnai, K., Yoshikawa, H., Du, H., Ares, M., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0033218 · Cited by 96 · see citing works
Self-citationKim, D.-H. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki698 · Cited by 88 · see citing works
RNA-binding proteins in microsatellite expansion disorders: Mediators of RNA toxicity
Echeverria, G. V., & Cooper, T. A. (2012) · Brain Research · doi:10.1016/j.brainres.2012.02.030 · Cited by 88 · see citing works
Tau alternative splicing in familial and sporadic tauopathies
Niblock, M., & Gallo, J. (2012) · Biochemical Society Transactions · doi:10.1042/bst20120091 · Cited by 87 · see citing works
Kino, Y., Washizu, C., Kurosawa, M., Oma, Y., Hattori, N., Ishiura, S., & Nukina, N. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu492 · Cited by 80 · see citing works
New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats
Laurent, F.-X., Sureau, A., Klein, A. F., Trouslard, F., Gasnier, E., Furling, D., & Marie, J. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr1228 · Cited by 73 · see citing works
Progressive impairment of muscle regeneration in muscleblind-like 3 isoform knockout mice
Poulos, M. G., Batra, R., Li, M., Yuan, Y., Zhang, C., Darnell, R. B., & Swanson, M. S. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt209 · Cited by 69 · see citing works
Self-citationPrediction of clustered RNA-binding protein motif sites in the mammalian genome
Zhang, C., Lee, K., Swanson, M. S., & Darnell, R. B. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt421 · Cited by 65 · see citing works
Self-citationdCLIP: a computational approach for comparative CLIP-seq analyses
Wang, T., Xie, Y., & Xiao, G. (2014) · Genome biology · doi:10.1186/gb-2014-15-1-r11 · Cited by 63 · see citing works
Dhaenens, C., Schraen‐Maschke, S., Tran, H., Vingtdeux, V., Ghanem, D., Leroy, O., Delplanque, J., Vanbrussel, E., Delacourte, A., Vermersch, P., et al. (2007) · Experimental Neurology · doi:10.1016/j.expneurol.2007.11.020 · Cited by 59 · see citing works
Self-citationRNA–protein interactions in unstable microsatellite diseases
Mohan, A., Goodwin, M., & Swanson, M. S. (2014) · Brain Research · doi:10.1016/j.brainres.2014.03.039 · Cited by 55 · see citing works
Self-citationDDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1
Pettersson, O. J., Aagaard, L., Andrējeva, D., Thomsen, R., Jensen, T. G., & Damgaard, C. K. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku352 · Cited by 49 · see citing works
RNA-Binding Protein Misregulation in Microsatellite Expansion Disorders
Goodwin, M., & Swanson, M. S. (2014) · Advances in experimental medicine and biology · doi:10.1007/978-1-4939-1221-6_10 · Cited by 33 · see citing works
Self-citationCarpentier, C., Ghanem, D., Fernández-Gómez, F.-J., Jumeau, F., Philippe, J.-V., Freyermuth, F., Labudeck, A., Eddarkaoui, S., Dhaenens, C., Holt, I., et al. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2014.01.004 · Cited by 29 · see citing works
Self-citationMBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1
Huin, V., Vasseur, F., Schraen‐Maschke, S., Dhaenens, C., Devos, P., Dupont, K., Sergeant, N., Buée, L., Lacour, A., Radvanyi, H., et al. (2012) · Journal of Neurology · doi:10.1007/s00415-012-6740-y · Cited by 17 · see citing works
Self-citationFernández-Gómez, F.-J., Jumeau, F., Derisbourg, M. J., Burnouf, S., Tran, H., Eddarkaoui, S., Obriot, H., Dutoit, V., Deramecourt, V., Mitchell, V. A., et al. (2014) · Journal of Visualized Experiments · doi:10.3791/51339 · Cited by 9 · see citing works
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Flagged first, then by citations
2 of the 49 references couldn’t be matched to a known paper.
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Dynamic transcriptomic m6A decoration: writers, erasers, readers and functions in RNA metabolism
Yang, Y., Hsu, P. J., Chen, Y.-S., & Yang, Y. (2018) · Cell Research · doi:10.1038/s41422-018-0040-8 · Cited by 1,683 · see citing works
Alternative splicing as a regulator of development and tissue identity
Baralle, F. E., & Giudice, J. (2017) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2017.27 · Cited by 1,333 · see citing works
The neurogenetics of alternative splicing
Vuong, C. K., Black, D. L., & Zheng, S. (2016) · Nature Reviews Neuroscience · doi:10.1038/nrn.2016.27 · Cited by 340 · 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
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-citationDefective control of pre–messenger RNA splicing in human disease
Chabot, B., & Shkreta, L. (2016) · The Journal of Cell Biology · doi:10.1083/jcb.201510032 · Cited by 209 · see citing works
Freyermuth, F., Rau, F., Kokunai, Y., Linke, T., Sellier, C., Nakamori, M., Kino, Y., Arandel, L., Jollet, A., Thibault-Carpentier, C., et al. (2016) · Nature Communications · doi:10.1038/ncomms11067 · Cited by 206 · see citing works
Self-citationAlternative splicing in neurodegenerative disease and the promise of RNA therapies
Nikom, D., & Zheng, S. (2023) · Nature reviews. Neuroscience · doi:10.1038/s41583-023-00717-6 · Cited by 189 · see citing works
Core Clinical Phenotypes in Myotonic Dystrophies
Wenninger, S., Montagnese, F., & Schoser, B. G. H. (2018) · Frontiers in Neurology · doi:10.3389/fneur.2018.00303 · Cited by 167 · see citing works
Roles for RNA-binding proteins in development and disease
Brinegar, A. E., & Cooper, T. A. (2016) · Brain Research · doi:10.1016/j.brainres.2016.02.050 · Cited by 151 · 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
Self-citationRNA metabolism in neurodegenerative disease
Liu, E. Y., Cali, C. P., & Lee, E. B. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.028613 · Cited by 137 · see citing works
An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I
López‐Martínez, A., Soblechero‐Martín, P., Ovejero, L. D. L. P., Nogales‐Gadea, G., & Arechavala‐Gomeza, V. (2020) · Genes · doi:10.3390/genes11091109 · Cited by 132 · 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-citationShort Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy
Sznajder, Ł. J., & Swanson, M. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20133365 · Cited by 103 · see citing works
Self-citationDysregulation of mRNA Localization and Translation in Genetic Disease
Wang, E. T., Taliaferro, J. M., Lee, J.-A., Sudhakaran, I. P., Rossoll, W., Groß, C., Moss, K. R., & Bassell, G. J. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.2352-16.2016 · Cited by 115 · see citing works
Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophyPreprint
Thomas, J. D., Sznajder, Ł. J., Bardhi, O., Aslam, F. N., Anastasiadis, Z. P., Scotti, M. M., Nishino, I., Nakamori, M., Wang, E. T., & Swanson, M. S. (2017) · Genes & Development · doi:10.1101/gad.300590.117 · Cited by 94 · see citing works
Self-citationMyotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS
Gourdon, G., & Meola, G. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00101 · Cited by 93 · see citing works
Glineburg, M. R., Todd, P. K., Charlet‐Berguerand, N., & Sellier, C. (2018) · Brain Research · doi:10.1016/j.brainres.2018.02.006 · Cited by 90 · see citing works
Cerro-Herreros, E., Sabater-Arcis, M., Fernández‐Costa, J. M., Moreno, N., Pérez‐Alonso, M., Llamusí, B., & Artero, R. D. (2018) · Nature Communications · doi:10.1038/s41467-018-04892-4 · Cited by 89 · see citing works
Sudmant, P. H., Lee, H., Dominguez, D., Heiman, M., & Burge, C. B. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.10.094 · Cited by 83 · see citing works
Wieben, E. D., Aleff, R. A., Tang, X., Butz, M. L., Kalari, K. R., Highsmith, E. W., Jen, J., Vasmatzis, G., Patel, S. V., Maguire, L. J., et al. (2017) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-20900 · Cited by 81 · see citing works
Sellier, C., Cerro-Herreros, E., Blatter, M., Freyermuth, F., Gaucherot, A., Ruffenach, F., Sarkar, P. S., Puymirat, J., Udd, B., Day, J., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04370-x · Cited by 74 · see citing works
Self-citationTranscriptome alterations in myotonic dystrophy frontal cortex
Otero, B. A., Poukalov, K., Hildebrandt, R. P., Thornton, C. A., Jinnai, K., Fujimura, H., Kimura, T., Hagerman, K. A., Sampson, J. B., Day, J., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2020.108634 · Cited by 64 · see citing works
Self-citationWang, P.-Y., Chang, K., Lin, Y.-M., Kuo, T., & Wang, G. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.02.025 · Cited by 51 · see citing works
HNRNPA1-induced spliceopathy in a transgenic mouse model of myotonic dystrophy
Li, M., Zhuang, Y., Batra, R., Thomas, J. D., Mao, L., Nutter, C. A., Scotti, M. M., Carter, H. A., Wang, Z. J., Huang, X., et al. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1907297117 · Cited by 51 · see citing works
Self-citationQuantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy
Wojciechowska, M., Sobczak, K., Kozłowski, P., Sedehizadeh, S., Wojtkowiak-Szlachcic, A., Czubak, K., Márkus, R., Łusakowska, A., Kamińska, A., & Brook, J. D. (2018) · Scientific Reports · doi:10.1038/s41598-018-24156-x · Cited by 50 · see citing works
Zhu, H., Yang, Y., Wang, Y., Wang, F., Huang, Y., Chang, Y., Wong, K., & Li, X. (2023) · Nature Communications · doi:10.1038/s41467-023-42547-1 · Cited by 48 · see citing works
Benichou, S. A., Jauvin, D., Serres‐Bérard, T. D., Pierre, M., Ling, K., Bennett, C. F., Rigo, F., Gourdon, G., Chahine, M., & Puymirat, J. (2022) · Gene Therapy · doi:10.1038/s41434-022-00316-7 · Cited by 48 · see citing works
Sicot, G., Servais, L., Dincã, D. M., Leroy, A., Prigogine, C., Medja, F., Braz, S. O., Huguet-Lachon, A., Chhuon, C., Nicole, A., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.06.006 · Cited by 46 · see citing works
Self-citationCerro-Herreros, E., Fernández‐Costa, J. M., Sabater-Arcis, M., Llamusí, B., & Artero, R. D. (2016) · Scientific Reports · doi:10.1038/srep36230 · Cited by 45 · see citing works
Of Mice and Men: Advances in the Understanding of Neuromuscular Aspects of Myotonic Dystrophy
Bráz, S., Acquaire, J., Gourdon, G., & Gomes-Pereira, M. (2018) · Frontiers in Neurology · doi:10.3389/fneur.2018.00519 · Cited by 45 · 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
Myotonic Dystrophy and Developmental Regulation of RNA Processing
Thomas, J. D., Oliveira, R., Sznajder, Ł. J., & Swanson, M. S. (2018) · Comprehensive physiology · doi:10.1002/cphy.c170002 · Cited by 47 · see citing works
Self-citationKuot, A., Hewitt, A. W., Snibson, G. R., Souzeau, E., Mills, R. A., Craig, J. E., Burdon, K. P., & Sharma, S. (2017) · PLoS ONE · doi:10.1371/journal.pone.0183719 · Cited by 40 · see citing works
Zhang, F., Bodycombe, N. E., Haskell, K., Sun, Y., Wang, E. T., Morris, C. A., Jones, L. H., Wood, L. D., & Pletcher, M. T. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx190 · Cited by 40 · see citing works
Bioengineered in vitro 3D model of myotonic dystrophy type 1 human skeletal muscle
Fernández‐Garibay, X., Ortega, M. A., Cerro-Herreros, E., Comelles, J., Martínez, E., Artero, R. D., Fernández‐Costa, J. M., & Ramón‐Azcón, J. (2021) · Biofabrication · doi:10.1088/1758-5090/abf6ae · Cited by 38 · see citing works
Reduced cytoplasmic MBNL1 is an early event in a brain-specific mouse model of myotonic dystrophy
Wang, P.-Y., Lin, Y.-M., Wang, L., Kuo, T., Cheng, S., & Wang, G. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx115 · Cited by 37 · see citing works
Sleep disorders in myotonic dystrophies
Subramony, S. H., Wymer, J. P., Pinto, B. S., & Wang, E. T. (2020) · Muscle & Nerve · doi:10.1002/mus.26866 · Cited by 35 · see citing works
Mérien, A., Tahraoui‐Bories, J., Cailleret, M., Dupont, J.-B., Leteur, C., Polentes, J., Carteron, A., Polvèche, H., Concordet, J., Pinset, C., et al. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab218 · Cited by 31 · see citing works
Lee, K., Chang, H., Seah, C., & Lee, L. (2019) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2019.00075 · Cited by 30 · see citing works
Self-citationLaForce, G. R., Farr, J. S., Liu, J., Akesson, C., Gümüş, E., Pinkard, O. W., Miranda, H. C., Johnson, K., Sweet, T. J., Ji, P., et al. (2022) · Neuron · doi:10.1016/j.neuron.2022.01.018 · Cited by 29 · see citing works
Biology of RNA Surveillance in Development and Disease
Laffleur, B., & Basu, U. (2019) · Trends in Cell Biology · doi:10.1016/j.tcb.2019.01.004 · Cited by 29 · see citing works
Targeting Myotonic Dystrophy Type 1 with Metformin
García-Puga, M., Saenz‐Antoñanzas, A., Matheu, A., & de Munaín, A. L. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23052901 · Cited by 27 · see citing works
MECP2-related pathways are dysregulated in a cortical organoid model of myotonic dystrophy
Morelli, K. H., Jin, W., Sathe, S., Madrigal, A. A., Jones, K. L., Schwartz, J. L., Bridges, T., Mueller, J. R., Shankar, A., Chaim, I. A., et al. (2022) · Science Translational Medicine · doi:10.1126/scitranslmed.abn2375 · Cited by 26 · see citing works
Self-citationFuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1
Winkler, N. S., Milone, M., Martinez‐Thompson, J. M., Raja, H., Aleff, R. A., Patel, S. V., Fautsch, M. P., Wieben, E. D., & Baratz, K. H. (2018) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.17-23160 · Cited by 26 · see citing works
Conserved functions of RNA-binding proteins in muscle
Nikonova, E. V., Kao, S.-Y., Ravichandran, K., Wittner, A., & Spletter, M. L. (2019) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2019.02.008 · Cited by 23 · see citing works
Serra, L., Bianchi, G., Bruschini, M., Giulietti, G., Domenico, C. D., Bonarota, S., Petrucci, A., Silvestri, G., Perna, A., Meola, G., et al. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.00113 · Cited by 25 · see citing works
Neurodegenerative diseases and cancer: sharing common mechanisms in complex interactions
Rojas, N. G., Cesarini, M., Etcheverry, J. L., Prat, G. A. D., Arciuch, V. G. A., & Gatto, E. M. (2020) · Journal of Integrative Neuroscience · doi:10.31083/j.jin.2020.01.3 · Cited by 25 · see citing works
Benichou, S. A., Jauvin, D., Serres‐Bérard, T. D., Bennett, F., Rigo, F., Gourdon, G., Boutjdir, M., Chahine, M., & Puymirat, J. (2022) · Human Gene Therapy · doi:10.1089/hum.2022.069 · Cited by 26 · see citing works
André, L. M., van Cruchten, R. T. P., Willemse, M. P., & Wansink, D. G. (2019) · PLoS ONE · doi:10.1371/journal.pone.0217317 · Cited by 24 · see citing works
Boujnouni, N. E., van der Bent, M. L., Willemse, M. P., Hoen, P. A. C. ’., Brock, R. E., & Wansink, D. G. (2023) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2023.04.010 · Cited by 24 · see citing works
Trinucleotide Repeat Expansion Diseases, RNAi, and Cancer
Murmann, A. E., Yu, J., Opal, P., & Peter, M. E. (2018) · Trends in cancer · doi:10.1016/j.trecan.2018.08.004 · Cited by 25 · see citing works
Mason, M. A., Gomez-Paredes, C., Sathasivam, K., Neueder, A., Papadopoulou, A. S., & Bates, G. P. (2020) · Scientific Reports · doi:10.1038/s41598-020-71111-w · Cited by 24 · see citing works
A CRISPR-Cas13a Based Strategy That Tracks and Degrades Toxic RNA in Myotonic Dystrophy Type 1
Zhang, N., Bewick, B., Xia, G., Furling, D., & Ashizawa, T. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.594576 · Cited by 24 · see citing works
Lee, K., Seah, C., Li, C. L., Chen, Y.-F., Chen, C.-Y., Wu, C.-I., Liao, P.-C., Shyu, Y., Olafson, H. R., McKee, K., et al. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac108 · Cited by 23 · see citing works
Self-citationDynamic landscape of alternative polyadenylation during retinal development
Hu, W., Li, S., Park, J. Y., Boppana, S., Ni, T., Li, M., Zhu, J., Tian, B., Xie, Z., & Xiang, M. (2016) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-016-2429-1 · Cited by 22 · see citing works
Serres‐Bérard, T. D., Pierre, M., Chahine, M., & Puymirat, J. (2021) · Neurobiology of Disease · doi:10.1016/j.nbd.2021.105532 · Cited by 21 · see citing works
Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectives
Rahm, L., Hale, M. A., Raaijmakers, R. H. L., Quiñones, A. M., Patki, T., Johnson, N. E., van Bokhoven, H., & Mul, K. (2025) · Nature Reviews Neurology · doi:10.1038/s41582-025-01139-x · Cited by 21 · see citing works
González‐Barriga, A., Lallemant, L., Dincã, D. M., Bráz, S., Polvèche, H., Magneron, P., Pionneau, C., Huguet-Lachon, A., Claude, J., Chhuon, C., et al. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.662035 · Cited by 21 · see citing works
Brain Pathogenesis and Potential Therapeutic Strategies in Myotonic Dystrophy Type 1
Liu, J., Guo, Z., Yan, X., Yang, Y., & Huang, S. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.755392 · Cited by 21 · see citing works
Paradoxical overexpression of MBNL2 in hepatocellular carcinoma inhibits tumor growth and invasion
Lee, Y.-H., Jhuang, Y., Chen, Y., Jeng, Y., & Yuan, R. (2016) · Oncotarget · doi:10.18632/oncotarget.11577 · Cited by 21 · see citing works
Cerro-Herreros, E., Chakraborty, M., Pérez‐Alonso, M., Artero, R. D., & Llamusí, B. (2017) · Scientific Reports · doi:10.1038/s41598-017-02829-3 · Cited by 20 · see citing works
Regulation of alternative splicing and polyadenylation in neurons
Lee, S., Aubee, J. I., & Lai, E. C. (2023) · Life Science Alliance · doi:10.26508/lsa.202302000 · Cited by 21 · see citing works
Campione, E., Botta, A., Prete, M. D., Rastelli, E., Gibellini, M., Petrucci, A., Bernardini, S., Novelli, G., Bianchi, L., Orlandi, A., et al. (2016) · Neuromuscular Disorders · doi:10.1016/j.nmd.2016.11.004 · Cited by 19 · see citing works
Dementia Therapy Targeting Tau
Buée, L. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-32-9358-8_30 · Cited by 18 · see citing works
Self-citationSznajder, Ł. J., Khan, M., Ciesiołka, A., Tadross, M., Nutter, C. A., Taylor, K., Pearson, C. E., Lewis, M. H., Hines, R. M., Swanson, M. S., et al. (2025) · Nature Neuroscience · doi:10.1038/s41593-025-01943-0 · Cited by 17 · see citing works
Self-citationAtes, S., Deistung, A., Schneider, R., Prehn, C., Lukas, C., Reichenbach, J. R., Schneider‐Gold, C., & Bellenberg, B. (2019) · Frontiers in Neurology · doi:10.3389/fneur.2019.01320 · Cited by 17 · see citing works
Chou, C., Chang, P., Wei, Y., & Lee, K. (2017) · Journal of the American Heart Association · doi:10.1161/jaha.116.005191 · Cited by 16 · see citing works
Self-citationChoroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1
Nutter, C. A., Kidd, B. M., Carter, H. A., Hamel, J., Mackie, P. M., Kumbkarni, N., Davenport, M. L., Tuyn, D. M., Gopinath, A., Creigh, P. D., et al. (2023) · Brain · doi:10.1093/brain/awad148 · Cited by 15 · see citing works
Self-citationMbnl1 and Mbnl2 regulate brain structural integrity in mice
Maria, N. S. S., Zhou, C., Lee, S. J., Valiulahi, P., Li, X., Choi, J., Liu, X., Jacobs, R. E., Comai, L., & Reddy, S. (2021) · Communications Biology · doi:10.1038/s42003-021-02845-0 · Cited by 15 · see citing works
Calpain-2 Mediates MBNL2 Degradation and a Developmental RNA Processing Program in Neurodegeneration
Wang, L., Lin, C., Lin, Y.-M., Buée, L., Sergeant, N., Blum, D. L., Chern, Y., & Wang, G. (2022) · Journal of Neuroscience · doi:10.1523/jneurosci.2006-21.2022 · Cited by 16 · see citing works
Self-citationMyotonic Dystrophy: an RNA Toxic Gain of Function Tauopathy?
Fernández-Gómez, F.-J., Tran, H., Dhaenens, C., Caillet‐Boudin, M., Schraen‐Maschke, S., Blum, D. L., Sablonnière, B., Buée‐Scherrer, V., Buée, L., & Sergeant, N. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-32-9358-8_17 · Cited by 15 · see citing works
Self-citationFunctions of the Muscleblind-like protein family and their role in disease
Zhou, H., Xu, J., & Pan, L. (2025) · Cell Communication and Signaling · doi:10.1186/s12964-025-02102-5 · Cited by 14 · see citing works
Degener, M. J. F., van Cruchten, R. T. P., Otero, B. A., Wang, E. T., Wansink, D. G., & Hoen, P. A. C. ’. (2022) · NAR Genomics and Bioinformatics · doi:10.1093/nargab/lqac016 · Cited by 12 · see citing works
MBNL‐dependent impaired development within the neuromuscular system in myotonic dystrophy type 1
Tahraoui‐Bories, J., Mérien, A., González‐Barriga, A., Lainé, J., Leteur, C., Polvèche, H., Carteron, A., de Lamotte, J. D., Nicoleau, C., Polentes, J., et al. (2022) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12876 · Cited by 14 · see citing works
Ramon‐Duaso, C., Rodríguez-Morató, J., Selma-Soriano, E., Fernández-Avilés, C., Artero, R. D., de la Torre, R., Pozo, Ó. J., & Robledo, P. (2020) · Neuropharmacology · doi:10.1016/j.neuropharm.2020.108030 · Cited by 14 · see citing works
Nishi, M., Kimura, T., Igeta, M., Furuta, M., Suenaga, K., Matsumura, T., Fujimura, H., Jinnai, K., & Yoshikawa, H. (2020) · PLoS ONE · doi:10.1371/journal.pone.0224912 · Cited by 13 · see citing works
Self-citationEslamimehr, S., Jones, A. D., Anthony, T. M., Arshad, S. H., Holloway, J. W., Ewart, S., Luo, R., Mukherjee, N., Rahimabad, P. K., Chen, S., et al. (2022) · Current Zoology · doi:10.1093/eep/dvac002 · Cited by 13 · see citing works
Reane, D. V., Cerqua, C., Sacconi, S., Salviati, L., Trevisson, E., & Raffaello, A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23052517 · Cited by 12 · see citing works
Myotonic Dystrophy and Developmental Regulation of RNA Processing
Thomas, J. D., Oliveira, R., Sznajder, Ł. J., & Swanson, M. S. (2018) · Comprehensive physiology · doi:10.1002/j.2040-4603.2018.tb00015.x · Cited by 13 · see citing works
Self-citationControl of CNS Functions by RNA-Binding Proteins in Neurological Diseases
Zhou, Y., Dong, F., & Mao, Y. (2018) · Current Pharmacology Reports · doi:10.1007/s40495-018-0140-7 · Cited by 13 · see citing works
Cerebral involvement and related aspects in myotonic dystrophy type 2
Perić, S., Rakočević-Stojanović, V., & Meola, G. (2021) · Neuromuscular Disorders · doi:10.1016/j.nmd.2021.06.002 · Cited by 13 · see citing works
Huang, C., Lee, K., Lin, P., Nian, F., Cheng, H., Chang, C., Liao, C.-Y., Su, Y., Seah, C., Li, C. L., et al. (2023) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12890 · Cited by 12 · see citing works
Self-citationLineage-specific splicing regulation of MAPT gene in the primate brain
Recinos, Y., Bao, S., Wang, X., Phillips, B. L., Yeh, Y.-T., Weyn‐Vanhentenryck, S. M., Swanson, M. S., & Zhang, C. (2024) · Cell Genomics · doi:10.1016/j.xgen.2024.100563 · Cited by 12 · see citing works
Self-citationPotier, B., Lallemant, L., Parrot, S., Huguet-Lachon, A., Gourdon, G., Dutar, P., & Gomes-Pereira, M. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23020592 · Cited by 12 · see citing works
Ikenoshita, S., Matsuo, K., Yabuki, Y., Kawakubo, K., Asamitsu, S., Hori, K., Usuki, S., Hirose, Y., Bando, T., Araki, K., et al. (2023) · Journal of Clinical Investigation · doi:10.1172/jci164792 · Cited by 12 · see citing works
Deciphering the Complex Molecular Pathogenesis of Myotonic Dystrophy Type 1 through Omics Studies
Espinosa-Espinosa, J., González‐Barriga, A., López, A., & Artero, R. D. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031441 · Cited by 11 · see citing works
Wu, Y., Wei, Q., Lin, J., Shang, H., & Ou, R. (2024) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2024.1369332 · Cited by 10 · see citing works
Multisystem Symptoms in Myotonic Dystrophy Type 1: A Management and Therapeutic Perspective
Kuntawala, D. H., Vitorino, R. M. P., Cruz, A. C., Martins, F., & Rebelo, S. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26115350 · Cited by 10 · see citing works
MBNL deficiency in motor neurons disrupts neuromuscular junction maintenance and gait coordination
Frison-Roche, C., Demier, C. M., Cottin, S., Lainé, J., Arandel, L., Halliez, M., Lemaître, M., Lornage, X., Strochlic, L., Swanson, M. S., et al. (2024) · Brain · doi:10.1093/brain/awae336 · Cited by 9 · see citing works
Self-citationDM1 repeat-expanded RNAs confer RNA toxicity as individual nuclear-retained RNAs
Ouyang, J. P. T., Shukla, S., Bensalah, M., & Parker, R. (2025) · Cell Reports · doi:10.1016/j.celrep.2025.115582 · Cited by 9 · see citing works
Puri, D., Sharma, S., Samaddar, S., Ravivarma, S., Banerjee, S., & Ghosh‐Roy, A. (2023) · PLoS Genetics · doi:10.1371/journal.pgen.1010885 · Cited by 9 · see citing works
Furuta, M., Kimura, T., Nakamori, M., Matsumura, T., Fujimura, H., Jinnai, K., Takahashi, M. P., Mochizuki, H., & Yoshikawa, H. (2018) · Neuroreport · doi:10.1097/wnr.0000000000000968 · Cited by 9 · see citing works
Self-citationRNA structure in alternative splicing regulation: from mechanism to therapy
Bao, N., Wang, Z., Fu, J., Dong, H., & Jin, Y. (2024) · Acta Biochimica et Biophysica Sinica · doi:10.3724/abbs.2024119 · Cited by 9 · see citing works
Regulatory Potential of Competing Endogenous RNAs in Myotonic Dystrophies
Kościańska, E., Kozłowska, E., & Fiszer, A. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22116089 · Cited by 8 · see citing works
An in vivo knockdown strategy reveals multiple functions for circMblPreprint
Pamudurti, N. R., Konakondla-Jacob, V. V., Krishnamoorthy, A., Ashwal-Fluss, R., Bartok, O., Wüst, S., Seitz, K., Maya, R., Lerner, N., Patop, I. L., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/483271 · Cited by 7 · see citing works
Increased EEG Theta Spectral Power in Sleep in Myotonic Dystrophy Type 1
Cheung, J., Ruoff, C. M., Moore, H. E., Hagerman, K. A., Perez, J. M., Sakamuri, S., Warby, S. C., Mignot, E. J.-M., Day, J., & Sampson, J. B. (2018) · Journal of Clinical Sleep Medicine · doi:10.5664/jcsm.6940 · Cited by 7 · see citing works
Self-citationDeregulation of RNA Metabolism in Microsatellite Expansion Diseases
Misra, C., Lin, F., & Kalsotra, A. (2018) · Advances in neurobiology · doi:10.1007/978-3-319-89689-2_8 · Cited by 7 · see citing works
Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2
Spitalieri, P., Talarico, R. V., Murdocca, M., Fontana, L., Marcaurelio, M., Campione, E., Massa, R., Meola, G., Serafino, A., Novelli, G., et al. (2018) · Frontiers in Physiology · doi:10.3389/fphys.2018.00967 · Cited by 7 · see citing works
- Authors
- Goodwin, M., Mohan, A., Batra, R., Lee, K.-Y., Charizanis, K., Gómez, F. J. F., Eddarkaoui, S., Sergeant, N., Buée, L., Kimura, T., Clark, H. B., Dalton, J., Takamura, K., Weyn-Vanhentenryck, S. M., Zhang, C., Reid, T., Ranum, L. P. W., Day, J. W., & Swanson, M. S.
- Affiliations
- University of Florida (US)
- Chang Gung Memorial Hospital (TW)
- Inserm (FR)
- Hyogo Medical University (JP)
- University of Minnesota (US)
- Columbia University (US)
- Stanford Medicine (US)
- Corresponding author
- Swanson, Maurice S.
- ORCID
- Venue
- Cell Reports
- Publisher
- Elsevier BV
- Published
- 2015-08
- Volume
- 12
- Issue
- 7
- Pages
- 1159-1168
- ISSN
- 2211-1247 (ISSN-L)
- PMC
- PMC4545389
- OpenAlex
- W1664710634
- Cited by
- 151
- References
- 49
- Citations by year
- 2026: 10 · 2025: 16 · 2024: 7 · 2023: 15 · 2022: 19 · 2021: 12 · 2020: 12 · 2019: 11 · 2018: 24 · 2017: 13 · 2016: 12
- FWCI
- 7.10
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Cell Reports (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- ARC Centre for Nanoscale BioPhotonics
- National Institutes of Health
- U.S. Public Health Service (GSE68890)
- National Institute of General Medical Sciences (R00GM095713)
- National Institute of Neurological Disorders and Stroke (P01NS058901, NS058901, R01NS089676)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR046799)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- myotonic dystrophy, MBNL proteins, MBNL2, alternative splicing, polyadenylation, pre-mRNA processing, tau isoforms, RNA-binding proteins, HITS-CLIP
- MeSH terms
- Animals, Brain, DNA-Binding Proteins, Humans, Myotonic Dystrophy, RNA Splicing, RNA-Binding Proteins, tau Proteins, Microsatellite Repeats, RNA, Untranslated, DNA Repeat Expansion, Mice
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