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Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy
Open accessAbstract
The common form of myotonic dystrophy (DM1) is associated with the expression of expanded CTG DNA repeats as RNA (CUG(exp) RNA). To test whether CUG(exp) RNA creates a global splicing defect, we compared the skeletal muscle of two mouse models of DM1, one expressing a CTG(exp) transgene and another homozygous for a defective muscleblind 1 (Mbnl1) gene. Strong correlation in splicing changes for approximately 100 new Mbnl1-regulated exons indicates that loss of Mbnl1 explains >80% of the splicing pathology due to CUG(exp) RNA. In contrast, only about half of mRNA-level changes can be attributed to loss of Mbnl1, indicating that CUG(exp) RNA has Mbnl1-independent effects, particularly on mRNAs for extracellular matrix proteins. We propose that CUG(exp) RNA causes two separate effects: loss of Mbnl1 function (disrupting splicing) and loss of another function that disrupts extracellular matrix mRNA regulation, possibly mediated by Mbnl2. These findings reveal unanticipated similarities between DM1 and other muscular dystrophies.
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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 patterns101–105.”
From The neurogenetics of alternative splicing (2016) · cites this paper as [103]
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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method
Livak, K. J., & Schmittgen, T. D. (2001) · Methods · doi:10.1006/meth.2001.1262 · Cited by 180,860
In silico prediction of protein-protein interactions in human macrophages
Souiai, O., Guerfali, F. Z., Miled, S. B., Brun, C., & Benkahla, A. (2014) · BMC Research Notes · doi:10.1186/1756-0500-7-157 · Cited by 10,785
Significance analysis of microarrays applied to the ionizing radiation response
Tusher, V. G., Tibshirani, R., & Chu, G. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.091062498 · Cited by 10,568
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
Self-citationExpandable DNA repeats and human disease
Mirkin, S. M. (2007) · Nature · doi:10.1038/nature05977 · Cited by 934
Savkur, R. S., Philips, A. V., & Cooper, T. A. (2001) · Nature Genetics · doi:10.1038/ng704 · Cited by 795
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
Self-citationMyotonic 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
Self-citationMankodi, A. K., Takahashi, M. P., Jiang, H. N., Beck, C. L., Bowers, W. J., Moxley, R. T., Cannon, S. C., & Thornton, C. A. (2002) · Molecular Cell · doi:10.1016/s1097-2765(02)00563-4 · Cited by 672
Self-citationDetection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
Buxton, J. L., Shelbourne, P., Davies, J. L., Jones, C., Tongeren, T. V., Aslanidis, C., de Jong, P., Jansen, G., Anvret, M., Riley, B. P., et al. (1992) · Nature · doi:10.1038/355547a0 · Cited by 623
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Gladman, J. T., Mandal, M., Srinivasan, V., & Mahadevan, M. S. (2013) · PLoS ONE · doi:10.1371/journal.pone.0072907 · Cited by 20
Rehman, S., Gladman, J. T., Periasamy, A., Sun, Y., & Mahadevan, M. S. (2014) · PLoS ONE · doi:10.1371/journal.pone.0095957 · Cited by 20
An engineered RNA binding protein with improved splicing regulation
Hale, M. A., Richardson, J. I., Day, R. C., McConnell, O. L., Arboleda, J. D., Wang, E. T., & Berglund, J. A. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx1304 · Cited by 19
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Hasuike, Y., Mochizuki, H., & Nakamori, M. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23042339 · Cited by 22
Jenquin, J. R., O’Brien, A., Poukalov, K., Lu, Y., Frias, J. A., Shorrock, H. K., Richardson, J. I., Mazdiyasni, H., Yang, H., Huigens, R. W., et al. (2022) · iScience · doi:10.1016/j.isci.2022.104198 · Cited by 19
Drosophila muscleblind Codes for Proteins with One and Two Tandem Zinc Finger Motifs
Irion, U. (2012) · PLoS ONE · doi:10.1371/journal.pone.0034248 · Cited by 19
Noncoding RNAs: Emerging Players in Muscular Dystrophies
Falcone, G., Perfetti, A., Cardinali, B., & Martelli, F. (2014) · BioMed Research International · doi:10.1155/2014/503634 · Cited by 22
Hu, N., Kim, E., Antoury, L., & Wheeler, T. M. (2023) · Nature Communications · doi:10.1038/s41467-023-37619-1 · Cited by 19
RNA Helicases in Microsatellite Repeat Expansion Disorders and Neurodegeneration
Castelli, L. M., Benson, B. C., Huang, W.-P., Lin, Y.-H., & Hautbergue, G. M. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.886563 · Cited by 18
Brain tumors in patients with myotonic dystrophy: a population‐based study
Gadalla, S. M., Pfeiffer, R. M., Kristinsson, S. Y., Björkholm, M., Landgren, O., & Greene, M. H. (2015) · European Journal of Neurology · doi:10.1111/ene.12886 · Cited by 18
Yu, Z., Goodman, L. D., Shieh, S.-Y., Ma, M., Teng, X., Zhu, Y., & Bonini, N. M. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu507 · Cited by 20
Bargiela, A., Llamusí, B., Cerro-Herreros, E., & Artero, R. D. (2014) · PLoS ONE · doi:10.1371/journal.pone.0093125 · Cited by 18
Alternative Splicing Outcomes Across an RNA-Binding Protein Concentration Gradient
Ellis, J. A., Hale, M. A., Cleary, J. D., Wang, E. T., & Berglund, J. A. (2023) · Journal of Molecular Biology · doi:10.1016/j.jmb.2023.168156 · Cited by 16
Bahrami‐Samani, E., Vo, D. T., Araujo, P. R. D., Vogel, C., Smith, A. D., Penalva, L. O. F., & Uren, P. J. (2014) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1274 · Cited by 15
Conservation of context-dependent splicing activity in distant Muscleblind homologs
Oddo, J. C., Saxena, T., McConnell, O. L., Berglund, J. A., & Wang, E. T. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw735 · Cited by 17
Benign and malignant tumors in the UK myotonic dystrophy patient registry
Alsaggaf, R., Wang, Y., Marini‐Bettolo, C., Wood, L., Nikolenko, N., Lochmüller, H., Greene, M. H., & Gadalla, S. M. (2017) · Muscle & Nerve · doi:10.1002/mus.25736 · Cited by 17
Qawasmi, L., Braun, M., Guberman, I., Cohen, E., Naddaf, L., Mellul, A., Matilainen, O., Roitenberg, N., Share, D., Stupp, D., et al. (2019) · Journal of Molecular Biology · doi:10.1016/j.jmb.2019.03.003 · Cited by 17
Wang, J., Liu, Y., Zhang, X., Liu, Y.-H., Jiang, L., & Hu, H. (2024) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2024.107413 · Cited by 16
Experimental and Computational Considerations in the Study of RNA-Binding Protein-RNA Interactions
Nostrand, E. L. V., Huelga, S. C., & Yeo, G. W.-M. (2016) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-29073-7_1 · Cited by 17
Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders
Pagliarini, V., Rosa, P. L., & Sette, C. (2017) · Human Genetics · doi:10.1007/s00439-017-1802-y · Cited by 16
Guo, F., Wang, C., Wang, S., Zhang, J., Yan, Y., Guan, Z., & Meng, F. (2019) · Thoracic Cancer · doi:10.1111/1759-7714.12980 · Cited by 16
Cywoniuk, P., Taylor, K., Sznajder, Ł. J., & Sobczak, K. (2017) · Scientific Reports · doi:10.1038/s41598-017-17816-x · Cited by 17
hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies
Alexander, M. S., Hightower, R. M., Reid, A. L., Bennett, A. H., Iyer, L. K., Slonim, D. K., Saha, M., Kawahara, G., Kunkel, L. M., Kopin, A. S., et al. (2021) · Muscle & Nerve · doi:10.1002/mus.27216 · Cited by 16
Staufen from embryo polarity to cellular stress and neurodegeneration
Boccaccio, G. L. (2012) · Frontiers in Bioscience-Scholar · doi:10.2741/s277 · Cited by 17
Barron, V. A., Geng, C., Ladd, A. N., & Lou, H. J. (2012) · BMC Molecular Biology · doi:10.1186/1471-2199-13-35 · Cited by 15
(CCUG)n RNA toxicity in a Drosophila model for myotonic dystrophy type 2 (DM2) activates apoptosis
Yenigun, V. B., Sirito, M., Amcheslavky, A., Czernuszewicz, T. J., Colonques-Bellmunt, J., García-Alcover, I., Wojciechowska, M., Bolduc, C., Chen, Z., López, A., et al. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.026179 · Cited by 15
Jiménez-Marín, A., Diez, I. P., Labayru, G., Sistiaga, A., Caballero, M. C., Andrés‐Benito, P., Sepulcre, J., Ferrer, I., de Munaín, A. L., & Cortés, J. M. (2021) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12725 · Cited by 14
Chaudhuri, A., Das, S., & Das, B. (2020) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1591 · Cited by 16
Zebrafish mbnl mutants model physical and molecular phenotypes of myotonic dystrophy
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Functions 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
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
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
Maury, Y., Poydenot, P., Brinon, B., Lesueur, L., Gide, J., Roquevière, S., Côme, J., Polvèche, H., Auboeuf, D., Denis, J. A., et al. (2018) · iScience · doi:10.1016/j.isci.2018.12.019 · Cited by 14
Dissecting domains necessary for activation and repression of splicing by muscleblind-like protein 1
Edge, C., Gooding, C., & Smith, C. W. J. (2013) · BMC Molecular Biology · doi:10.1186/1471-2199-14-29 · Cited by 15
Lineage-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
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Solovyeva, E. M., Utzinger, S., Vissières, A., Mitchelmore, J., Ahrné, E., Hermes, E., Poetsch, T., Ronco, M., Bidinosti, M., Merkl, C., et al. (2023) · Molecular & Cellular Proteomics · doi:10.1016/j.mcpro.2023.100683 · Cited by 13
Alternatively spliced MBNL1 isoforms exhibit differential influence on enhancing brown adipogenesis
Hung, C.-S., & Lin, J.-C. (2019) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2019.194437 · Cited by 12
SCN5Asplicing variants and the possibility of predicting heart failure-associated arrhythmia
Gao, G., & Dudley, S. C. (2013) · Expert Review of Cardiovascular Therapy · doi:10.1586/erc.12.180 · Cited by 12
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Takeshima, Y. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26052270 · Cited by 11
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
Sewry, C. A., Quinlivan, R. C. M., Squier, W., Morris, G. E., & Holt, I. (2011) · Neuromuscular Disorders · doi:10.1016/j.nmd.2011.10.002 · Cited by 11
NKX2-5, a modifier of skeletal muscle pathology due to RNA toxicity
Gladman, J. T., Yadava, R. S., Mandal, M., Yu, Q., Kim, Y. K., & Mahadevan, M. S. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu443 · Cited by 11
Mapping of In Vivo RNA-Binding Sites by Ultraviolet (UV)-Cross-Linking Immunoprecipitation (CLIP)Preprint
Darnell, J. C., Mele, A., Hung, K. Y. S., & Darnell, R. B. (2018) · Cold Spring Harbor Protocols · doi:10.1101/pdb.top097931 · Cited by 12
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Guan, L., Zhang, S., & Xu, H. (2017) · IEEE Access · doi:10.1109/access.2017.2751499 · Cited by 10
Dewald, Z., Adesanya, O. A., Bae, H., Gupta, A. S., Derham, J. M., Chembazhi, U. V., & Kalsotra, A. (2024) · Nature Communications · doi:10.1038/s41467-024-53378-z · Cited by 12
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Chen, G., Carter, R. E., Cleary, J. D., Reid, T. S., Ranum, L. P. W., Swanson, M. S., & Ebner, T. J. (2018) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.01.003 · Cited by 11
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Puri, D., Sharma, S., Samaddar, S., Ravivarma, S., Banerjee, S., & Ghosh‐Roy, A. (2023) · PLoS Genetics · doi:10.1371/journal.pgen.1010885 · Cited by 7
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Yanovsky‐Dagan, S. (2015) · World Journal of Stem Cells · doi:10.4252/wjsc.v7.i5.823 · Cited by 10
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Zhang, X., Liu, F., & Zhou, Y. (2024) · Acta Biochimica et Biophysica Sinica · doi:10.3724/abbs.2024211 · Cited by 8
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Hestand, M. S., Zeng, Z., Coleman, S. J., Liu, J., & MacLeod, J. N. (2015) · PLoS ONE · doi:10.1371/journal.pone.0144302 · Cited by 5
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Batra, R., Nelles, D. A., Krach, F., Thomas, J. D., Snjader, L., Blue, S. M., Aigner, S., Swanson, M. S., & Yeo, G. W.-M. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/184408 · Cited by 4
Self-citationRapisarda, A. S., Bargiela, A., Llamusí, B., Pont, I., Estrada‐Tejedor, R., García‐España, E., Artero, R. D., & Pérez‐Alonso, M. (2021) · Scientific Reports · doi:10.1038/s41598-021-98866-0 · Cited by 3
de Castro, K. L. P., Abril, J., Liao, K., Hao, H., Donohue, J. P., Russell, W. K., & Fagg, W. S. (2026) · eLife · doi:10.7554/elife.103167.3 · Cited by 3
Self-citationXu, R., Li, S., Chien, C., Zhong, Y., Xiao, H., Fang, S., & Du, S. (2024) · Molecular and Cellular Biology · doi:10.1080/10985549.2024.2402660 · Cited by 3
Jonathan, J., Surez-Snchez, R., Leyva‐García, N., Cisneros, B., & Hernndez-Hernndez, O. (2012) · InTech eBooks · doi:10.5772/37238 · Cited by 3
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Schoser, B. G. H. (2013) · doi:10.1002/9781118635469.ch30 · Cited by 3
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Živković, S., & Clemens, P. R. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-398270-4.00011-2 · Cited by 2
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Li, M., Xu, F., Liu, Z., Wang, C., Zhao, Y. F., Zhu, G., & Shen, X. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.843202 · Cited by 2
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Coelho, M. B., & Smith, C. W. J. (2012) · Wiley eBooks · doi:10.1002/9783527636778.ch8 · Cited by 2
The Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1Preprint
Provenzano, M., Ikegami, K., Bates, K., Gaynor, A., Hartman, J. M., Jones, A. S., Butler, A., Berggren, K. N., Dekdebrun, J. M., Hung, M., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.07.10.602610 · Cited by 2
Self-citationMBNL proteins in health, disease, and therapeutic applications
Musiała, N., Konieczny, P., Plewka, P., Jasiok, A., & Stępniak-Konieczna, E. (2026) · Nucleic Acids Research · doi:10.1093/nar/gkag262 · Cited by 1
Knudson, L. A., Kosti, A., Hildebrandt, R. P., Jennings, E., Zhou, E. X., Moss, K. R., Shi, L., Nguyen, G. N., Janusz, A., Wang, E. T., et al. (2026) · Nucleic Acids Research · doi:10.1093/nar/gkag538 · Cited by 1
El papel de los RNAs no-codificantes en la patogénesis de la distrofia miotónica tipo 1
Murillo-Melo, N. M., Borbolla‐Jiménez, F. V., Hernández‐Hernández, Ó., & Magaña, J. J. (2022) · Investigación en Discapacidad · doi:10.35366/103941 · Cited by 1
Puwanant, A., Živković, S., & Clemens, P. R. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-85654-6.00055-1 · Cited by 1
Cure the Incurable: Update of Treatment in Inherited Neuromuscular Disorders
Yu, C.-H., & Lai, K. (2024) · Acta Neurologica Taiwanica · doi:10.4103/ant.33-4_review · Cited by 1
Thornton, C. A. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-381510-1.00068-5 · Cited by 1
Self-citationCongenital myotonic dystrophy—an RNA-mediated disease across a developmental continuumPreprint
Jagannathan, S., & Bradley, R. K. (2017) · Genes & Development · doi:10.1101/gad.302893.117 · Cited by 1
Mukherjee, A., & Nongthomba, U. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.12.02.626327
Wei, T., Hu, H., Jiang, X., Li, Y., Han, W., Yang, Y., Xiao, X., Mao, M., & Wang, Z. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.06.10.658795 · Cited by 1
Molecular Genetic Basis of Myotonic Dystrophy
Radvánszky, J., & Kádaši, Ľ. (2013) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0023864
Evaluation des Anästhesierisikos bei Myotonen Dystrophien
Kirzinger, L. (2011) · Electronic Theses of LMU Munich (Ludwig-Maximilians-Universität München) · doi:10.5282/edoc.13679
Functional Antagonism Between CELF and Mbnl Proteins in the CytoplasmPreprint
Wang, E. T., Ward, A. J., Cherone, J. M., Wang, T. T., Giudice, J., Cooper, T. A., & Burge, C. B. (2014) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/009183
SURVEY AND SUMMARY MBNL proteins and their target RNAs, interaction and splicing regulation
Konieczny, P., Stępniak-Konieczna, E., & Sobczak, K. (2014)
Metadata
- Authors
- Du, H., Cline, M. S., Osborne, R. J., Tuttle, D. L., Clark, T. A., Donohue, J. P., Hall, M. P., Shiue, L., Swanson, M. S., Thornton, C. A., & Ares, M.
- Affiliations
- University of California, Santa Cruz (US)
- University of Rochester Medicine (US)
- University of Florida (US)
- Affymetrix (United States) (US)
- Corresponding author
- Ares, Manuel
- ORCID
- Venue
- Nature Structural & Molecular Biology
- Published
- 2010-01-24
- Volume
- 17
- Issue
- 2
- Pages
- 187-193
- ISSN
- 1545-9985 (ISSN-L)
- 1545-9993
- PMC
- PMC2852634
- OpenAlex
- W2110459103
- Cited by
- 332
- References
- 65
- Citations by year
- 2026: 11 · 2025: 13 · 2024: 13 · 2023: 9 · 2022: 17 · 2021: 17 · 2020: 10 · 2019: 17 · 2018: 30 · 2017: 17 · 2016: 17 · 2015: 14 · 2014: 34 · 2013: 36 · 2012: 32
- FWCI
- 14.59
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Structural & Molecular Biology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5u54ns048843-12)
- National Institute of General Medical Sciences (R01GM084317, GM040478, R01GM040478, GM084317)
- National Institute of Neurological Disorders and Stroke (U54‐NS048843)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR049077, AR046799, K24AR048143, R01AR046799, R01AR046806, AR046806)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Keywords
- myotonic dystrophy type 1, CUG repeat expansion, MBNL1, MBNL2, alternative splicing, extracellular matrix gene expression, RNA-binding proteins, skeletal muscle, gene expression profiling, muscular dystrophy, mouse model
- MeSH terms
- Animals, Disease Models, Animal, DNA-Binding Proteins, Models, Biological, Myotonic Dystrophy, Repetitive Sequences, Nucleic Acid, RNA, Messenger, Gene Expression, Extracellular Matrix Proteins, RNA-Binding Proteins, Alternative Splicing, Mice
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