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 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 [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 · see citing works
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 · see citing works
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 · 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-citationExpandable DNA repeats and human disease
Mirkin, S. M. (2007) · Nature · doi:10.1038/nature05977 · Cited by 934 · see citing works
Savkur, R. S., Philips, A. V., & Cooper, T. A. (2001) · Nature Genetics · doi:10.1038/ng704 · Cited by 795 · 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
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 · see citing works
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 · see citing works
Self-citationCharlet‐Berguerand, N., Savkur, R. S., Singh, G., Philips, A. V., Grice, E. A., & Cooper, T. A. (2002) · Molecular Cell · doi:10.1016/s1097-2765(02)00572-5 · Cited by 619 · see citing works
Detection 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 617 · 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
Ni, J. Z., Grate, L. R., Donohue, J. P., Preston, C. G., Nobida, N., O’Brien, G. S., Shiue, L., Clark, T. A., Blume, J. E., & Ares, M. (2007) · Genes & Development · doi:10.1101/gad.1525507 · Cited by 551 · see citing works
Self-citationJiang, 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-citationFailure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
Lin, X., Miller, J. W., Mankodi, A., Kanadia, R. N., Yuan, Y., Moxley, R. T., Swanson, M. S., & Thornton, C. A. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl132 · Cited by 510 · cited 1× · see citing works
“Among these, the contribution of splicing perturbations is most clear given the physiological relevance of several splicing alterations that occur when CUG exp RNA is expresse”
Self-citationA postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart
Kalsotra, A., Xiao, X., Ward, A. J., Castle, J. C., Johnson, J. M., Burge, C. B., & Cooper, T. A. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0809045105 · Cited by 508 · see citing works
Hsu, F., Kent, W. J., Clawson, H., Kuhn, R. M., Diekhans, M., & Haussler, D. H. (2006) · Bioinformatics · doi:10.1093/bioinformatics/btl048 · Cited by 503 · see citing works
Regulation of muscle growth by multiple ligands signaling through activin type II receptors
Lee, S.-J., Reed, L. A., Davies, M. V., Girgenrath, S., Goad, M. E. P., Tomkinson, K. N., Wright, J. F., Barker, C., Ehrmantraut, G., Holmstrom, J., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0505996102 · Cited by 501 · 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-citationFardaei, M. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.7.805 · Cited by 464 · see citing works
Kuyumcu-Martinez, N. M., Wang, G., & Cooper, T. A. (2007) · Molecular Cell · doi:10.1016/j.molcel.2007.07.027 · Cited by 445 · see citing works
Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells
Lejeune, F., & Maquat, L. E. (2005) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2005.03.002 · Cited by 430 · see citing works
Triplet Repeat Mutations in Human Disease
Caskey, C. T., Pizzuti, A., Fu, Y., Fenwick, R. G., & Nelson, D. L. (1992) · Science · doi:10.1126/science.1589758 · Cited by 416 · see citing works
Xu, X., Yang, D., Ding, J.-H., Wang, W., Chu, P., Dalton, N. D., Wang, H., Bermingham, J. R., Ye, Z., Liu, F. C., et al. (2005) · Cell · doi:10.1016/j.cell.2004.11.036 · Cited by 391 · see citing works
Reversal of RNA Dominance by Displacement of Protein Sequestered on Triplet Repeat RNA
Wheeler, T. M., Sobczak, K., Lueck, J. D., Osborne, R. J., Lin, X., Dirksen, R. T., & Thornton, C. A. (2009) · Science · doi:10.1126/science.1173110 · Cited by 387 · see citing works
Self-citationKanadia, 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-citationRNA-dependent integrin α3 protein localization regulated by the Muscleblind-like protein MLP1
Adereth, Y., Dammai, V., Kose, N., Li, R., & Hsu, T. (2005) · Nature Cell Biology · doi:10.1038/ncb1335 · Cited by 347 · see citing works
Missense Variations in the Fibulin 5 Gene and Age-Related Macular Degeneration
Stone, E. M., Braun, T. A., Russell, S. R., Kuehn, M. H., Lotery, A. J., Moore, P. A., Eastman, C. G., Casavant, T. L., & Sheffield, V. C. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa040833 · Cited by 324 · see citing works
RNA CUG Repeats Sequester CUGBP1 and Alter Protein Levels and Activity of CUGBP1
Timchenko, N. A., Cai, Z.-J., Welm, A. L., Reddy, S., Ashizawa, T., & Timchenko, L. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m005960200 · Cited by 290 · see citing works
Zeebèrg, B. R., Qin, H., Narasimhan, S., Sunshine, M., Cao, H., Kane, D. W., Reimers, M., Stephens, R. M., Bryant, D., Burt, S. K., et al. (2005) · BMC Bioinformatics · doi:10.1186/1471-2105-6-168 · Cited by 279 · see citing works
Wheeler, T. M., Lueck, J. D., Swanson, M. S., Dirksen, R. T., & Thornton, C. A. (2007) · Journal of Clinical Investigation · doi:10.1172/jci33355 · Cited by 256 · see citing works
Self-citationLack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice
Eklund, L., Piuhola, J., Komulainen, J., Sormunen, R. T., Ongvarrasopone, C., Fässler, R., Muona, A., Ilves, M., Ruskoaho, H. J., Takala, T., et al. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.98.3.1194 · Cited by 226 · see citing works
Selection of splice sites in pre-mRNAs with short internal exons.
Dominski, Z., & Kole, R. (1991) · Molecular and Cellular Biology · doi:10.1128/mcb.11.12.6075 · Cited by 223 · see citing works
Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs
Yuan, Y., Compton, S. A., Sobczak, K., Stenberg, M. G., Thornton, C. A., Griffith, J. D., & Swanson, M. S. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm601 · Cited by 210 · see citing works
Self-citationKrol, J., Fiszer, A., Mykowska, A., Sobczak, K., de Mezer, M., & Krzyżosiak, W. J. (2007) · Molecular Cell · doi:10.1016/j.molcel.2007.01.031 · Cited by 197 · see citing works
Unusual Intron Conservation near Tissue-Regulated Exons Found by Splicing Microarrays
Sugnet, C. W., Srinivasan, K., Clark, T. A., O’Brien, G. S., Cline, M., Wang, H., Williams, A., Kulp, D., Blume, J. E., Haussler, D. H., et al. (2006) · PLoS Computational Biology · doi:10.1371/journal.pcbi.0020004 · Cited by 194 · see citing works
Self-citationThe 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
Warf, M. B., & Berglund, J. A. (2007) · RNA · doi:10.1261/rna.610607 · Cited by 178 · see citing works
Orengo, J. P., Chambon, P., METZGER, D., Mosier, D. R., Snipes, G. J., & Cooper, T. A. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0708519105 · Cited by 178 · see citing works
Teplova, M., & Patel, D. J. (2008) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.1519 · Cited by 170 · see citing works
Begemann, G., Paricio, N., Artero, R. D., Kiss, I., Pérez‐Alonso, M., & Mlodzik, M. (1997) · Development · doi:10.1242/dev.124.21.4321 · Cited by 159 · see citing works
RNA Leaching of Transcription Factors Disrupts Transcription in Myotonic Dystrophy
Ebralidze, A. K., Wang, Y., Petkova, V., Ebralidse, K. K., & Junghans, R. P. (2003) · Science · doi:10.1126/science.1088679 · Cited by 154 · see citing works
Interaction of musleblind, CUG‐BP1 and hnRNP H proteins in DM1‐associated aberrant IR splicing
Paul, S., Dansithong, W., Kim, D., Rossi, J. J., Webster, N. J. G., Comai, L., & Reddy, S. (2006) · The EMBO Journal · doi:10.1038/sj.emboj.7601296 · Cited by 153 · see citing works
Hanahan, D., Lane, D. P., Lipsich, L. A., Wigler, M. H., & Botchan, M. R. (1980) · Cell · doi:10.1016/0092-8674(80)90120-8 · Cited by 148 · see citing works
Congenital muscular dystrophy: molecular and cellular aspects
Jimenez-Mallebrera, C., Brown, S., Sewry, C. A., & Francesco Muntoni, A. (2005) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-004-4510-4 · Cited by 137 · see citing works
Kanagawa, M., & Toda, T. (2006) · Journal of Human Genetics · doi:10.1007/s10038-006-0056-7 · Cited by 131 · see citing works
Muscle Chloride Channel Dysfunction in Two Mouse Models of Myotonic Dystrophy
Lueck, J. D., Mankodi, A. K., Swanson, M. S., Thornton, C. A., & Dirksen, R. T. (2006) · The Journal of General Physiology · doi:10.1085/jgp.200609635 · Cited by 114 · see citing works
Self-citationEngelbert, R., Uiterwaal, C. S. P. M., Gerver, W. M., van der Net, J. J., Pruijs, H. E. H., & Helders, P. J. M. (2004) · Archives of Physical Medicine and Rehabilitation · doi:10.1016/j.apmr.2003.08.085 · Cited by 108 · see citing works
Nuclear RNA Foci in the Heart in Myotonic Dystrophy
Mankodi, A. K., Lin, X., Blaxall, B. C., Swanson, M. S., & Thornton, C. A. (2005) · Circulation Research · doi:10.1161/01.res.0000193598.89753.e3 · Cited by 108 · see citing works
Self-citationMolecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1
Hino, S., Kondo, S., Sekiya, H., Saito, A., Kanemoto, S., Murakami, T., Chihara, K., Aoki, Y., Nakamori, M., Takahashi, M. P., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm239 · Cited by 99 · see citing works
Ullrich disease due to deficiency of collagen VI in the sarcolemma
ISHIKAWA, H., Sugie, K., Murayama, K., Awaya, A., Suzuki, Y., Noguchi, S., Hayashi, Y. K., Nonaka, I., & Nishino, I. (2004) · Neurology · doi:10.1212/01.wnl.0000113023.84421.00 · Cited by 91 · see citing works
Kim, D.-H. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki698 · Cited by 88 · see citing works
Holt, I., Jacquemin, V., Fardaei, M., Sewry, C. A., Butler-Browne, G. S., Furling, D., Brook, J. D., & Morris, G. E. (2008) · American Journal Of Pathology · doi:10.2353/ajpath.2009.080520 · Cited by 80 · see citing works
Lueck, J. D., Lungu, C., Mankodi, A. K., Osborne, R. J., Welle, S. L., Dirksen, R. T., & Thornton, C. A. (2006) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00336.2006 · Cited by 78 · see citing works
Self-citationReduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa
Lotery, A. J., Baas, D. C., Ridley, C. E., Jones, R., Klaver, C. C. W., Stone, E. M., Nakamura, T., Luff, A. J., Griffiths, H., Wang, T., et al. (2006) · Human Mutation · doi:10.1002/humu.20344 · Cited by 78 · see citing works
Osteogenesis Imperfecta in Childhood: Impairment and Disability
Engelbert, R., van der Graaf, Y., Empelen, R. V., Beemer, F. A., & Helders, P. J. M. (1997) · PEDIATRICS · doi:10.1542/peds.99.2.e3 · Cited by 78 · see citing works
Congenital Muscular Dystrophies and the Extracellular Matrix
Schessl, J., Zou, Y., & Bönnemann, C. G. (2006) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2006.06.003 · Cited by 63 · see citing works
Muscleblind‐like 2 (Mbnl2) ‐deficient mice as a model for myotonic dystrophy
Hao, M., Akrami, K., Wei, K., Diego, C. D., Che, N., Ku, J.-H., Tidball, J. G., Graves, M. C., Shieh, P. B., & Chen, F. (2008) · Developmental Dynamics · doi:10.1002/dvdy.21428 · Cited by 63 · see citing works
Muscle fibrillin deficiency in Marfan's syndrome myopathy
Behan, W. M. H. (2003) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.74.5.633 · Cited by 60 · see citing works
Morellini, F., & Schachner, M. (2006) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2006.04657.x · Cited by 56 · see citing works
Muscle strength and body composition in adult women with Marfan syndrome
Percheron, G., Fayet, G., Ningler, T., Parc, J. M. L., Denot-Ledunois, S., Leroy, M., Raffestin, B., & Jondeau, G. (2007) · Lara D. Veeken · doi:10.1093/rheumatology/kel450 · Cited by 55 · see citing works
He, F., Dang, W., Saito, K., Watanabe, S., Kobayashi, N., Güntert, P., Kigawa, T., Tanaka, A., Muto, Y., & Yokoyama, S. (2009) · Protein Science · doi:10.1002/pro.49 · Cited by 27 · see citing works
Solution structure of the RNA binding domain in the human muscleblind‐like protein 2
He, F., Dang, W., Abe, C., Tsuda, K., Inoue, M., Watanabe, S., Kobayashi, N., Kigawa, T., Matsuda, T., Yabuki, T., et al. (2008) · Protein Science · doi:10.1002/pro.17 · Cited by 22 · see citing works
Chouinard, V. (2009) · doi:10.1002/9781444314762.ch14 · Cited by 13 · see citing works
Flagged first, then by citations
1 of the 65 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
Polymenidou, M., Lagier-Tourenne, C., Hutt, K. R., Huelga, S. C., Moran, J., Liang, T. Y., Ling, S.-C., Sun, E., Wancewicz, E., Mazur, C., et al. (2011) · Nature Neuroscience · doi:10.1038/nn.2779 · Cited by 1,335 · see citing works
Self-citationContext-dependent control of alternative splicing by RNA-binding proteins
Fu, X.-D., & Ares, M. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3778 · Cited by 1,044 · see citing works
Self-citationAntisense oligonucleotides: the next frontier for treatment of neurological disorders
Rinaldi, C., & Wood, M. J. A. (2018) · Nature Reviews Neurology · doi:10.1038/nrneurol.2017.148 · Cited by 788 · see citing works
The alternative role of DNA methylation in splicing regulation
Lev-Maor, G., Yearim, A., & Ast, G. (2015) · Trends in Genetics · doi:10.1016/j.tig.2015.03.002 · Cited by 566 · see citing works
Lagier‐Tourenne, C., Baughn, M. W., Rigo, F., Sun, S., Liu, P., Li, H., Jiang, J., Watt, A. T., Chun, S. J., Katz, M., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1318835110 · Cited by 555 · see citing works
Targeting nuclear RNA for in vivo correction of myotonic dystrophy
Wheeler, T. M., Leger, A. J., Pandey, S., MacLeod, A. R., Nakamori, M., Cheng, S. H., Wentworth, B. M., Bennett, C. F., & Thornton, C. A. (2012) · Nature · doi:10.1038/nature11362 · Cited by 503 · see citing works
Self-citationThe myotonic dystrophies: molecular, clinical, and therapeutic challenges
Udd, B., & Krahe, R. (2012) · The Lancet Neurology · doi:10.1016/s1474-4422(12)70204-1 · Cited by 493 · see citing works
Arnold, E. S., Ling, S., Huelga, S. C., Lagier‐Tourenne, C., Polymenidou, M., Ditsworth, D., Kordasiewicz, H. B., McAlonis‐Downes, M., Platoshyn, O., Parone, P. A., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1222809110 · Cited by 494 · 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
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
Huelga, S. C., Vu, A. Q., Arnold, J. D., Liang, T. Y., Liu, P. P., Yan, B. Y., Donohue, J. P., Shiue, L., Hoon, S., Brenner, S., et al. (2012) · Cell Reports · doi:10.1016/j.celrep.2012.02.001 · Cited by 470 · see citing works
Self-citationHITS-CLIP: panoramic views of protein-RNA regulation in living cells
Darnell, R. B. (2010) · WIREs RNA · doi:10.1002/wrna.31 · Cited by 382 · see citing works
Bechara, E., Sebestyén, E., Bernardis, I., Eyras, E., & Valcárcel, J. (2013) · Molecular Cell · doi:10.1016/j.molcel.2013.11.010 · Cited by 374 · 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
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
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-citationGenome-wide Analysis Reveals SR Protein Cooperation and Competition in Regulated Splicing
Pandit, S., Zhou, Y., Shiue, L., Coutinho-Mansfield, G., Li, H., Qiu, J., Huang, J. S., Yeo, G. W.-M., Ares, M., & Fu, X. (2013) · Molecular Cell · doi:10.1016/j.molcel.2013.03.001 · Cited by 321 · see citing works
Self-citationBatra, 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-citationPrecise temporal regulation of alternative splicing during neural development
Weyn‐Vanhentenryck, S. M., Feng, H., Ustianenko, D., Duffié, R., Yan, Q., Jacko, M., Martinez, J. C., Goodwin, M., Zhang, X., Hengst, U., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04559-0 · Cited by 271 · see citing works
Self-citationUnderstanding splicing regulation through RNA splicing maps
Witten, J. T., & Ule, J. (2011) · Trends in Genetics · doi:10.1016/j.tig.2010.12.001 · Cited by 276 · see citing works
Zhou, Z., Qiu, J., Liu, W., Zhou, Y., Plocinik, R. M., Li, H., Hu, Q., Ghosh, G., Adams, J. A., Rosenfeld, M. G., et al. (2012) · Molecular Cell · doi:10.1016/j.molcel.2012.05.014 · Cited by 274 · see citing works
Splicing biomarkers of disease severity in myotonic dystrophy
Nakamori, M., Sobczak, K., Puwanant, A., Welle, S., Eichinger, K. J., Pandya, S., Dekdebrun, J., Heatwole, C. R., McDermott, M., Chen, T., et al. (2013) · Annals of Neurology · doi:10.1002/ana.23992 · Cited by 266 · see citing works
Self-citationLlorian, M., Schwartz, S., Clark, T. A., Hollander, D., Tan, L.-Y., Spellman, R., Gordon, A., Schweitzer, A. C., de la Grange, P., Ast, G., et al. (2010) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.1881 · Cited by 263 · see citing works
Self-citationCellular and molecular mechanisms underlying muscular dystrophy
Rahimov, F., & Kunkel, L. M. (2013) · The Journal of Cell Biology · doi:10.1083/jcb.201212142 · Cited by 236 · see citing works
The RNA-Binding Protein QKI Suppresses Cancer-Associated Aberrant Splicing
Zong, F.-Y., Fu, X., Wei, W., Luo, Y.-G., Heiner, M., Cao, L., Fang, Z., Fang, R., Lu, D., Ji, H., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004289 · Cited by 235 · see citing works
MBNL proteins and their target RNAs, interaction and splicing regulation
Konieczny, P., Stępniak-Konieczna, E., & Sobczak, K. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku767 · Cited by 209 · see citing works
The 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
Licatalosi, D. D., Yano, M., Fak, J. J., Mele, A., Grabinski, S. E., Zhang, C., & Darnell, R. B. (2012) · Genes & Development · doi:10.1101/gad.191338.112 · Cited by 193 · see citing works
Alternative 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
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-citationAntagonistic regulation of mRNA expression and splicing by CELF and MBNL proteinsPreprint
Wang, E. T., Ward, A. J., Cherone, J. M., Giudice, J., Wang, T. T., Treacy, D. J., Lambert, N. J., Freese, P., Saxena, T., Cooper, T. A., et al. (2015) · Genome Research · doi:10.1101/gr.184390.114 · Cited by 190 · see citing works
RNA Protein Interaction in Neurons
Darnell, R. B. (2013) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-062912-114322 · Cited by 181 · see citing works
Tang, Z. Z., Yarotskyy, V., Wei, L., Sobczak, K., Nakamori, M., Eichinger, K. J., Moxley, R. T., Dirksen, R. T., & Thornton, C. A. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr568 · Cited by 181 · see citing works
Self-citationVascular smooth muscle phenotypic diversity and function
Fisher, S. A. (2010) · Physiological Genomics · doi:10.1152/physiolgenomics.00111.2010 · Cited by 178 · 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
Berson, A., Barbash, S., Shaltiel, G., Goll, Y., Hanin, G., Greenberg, D., Ketzef, M., Becker, A. J., Friedman, A., & Soreq, H. (2012) · EMBO Molecular Medicine · doi:10.1002/emmm.201100995 · Cited by 167 · see citing works
Quaking and PTB control overlapping splicing regulatory networks during muscle cell differentiation
Hall, M. P., Nagel, R. J., Fagg, W. S., Shiue, L., Cline, M., Perriman, R., Donohue, J. P., & Ares, M. (2013) · RNA · doi:10.1261/rna.038422.113 · Cited by 158 · see citing works
Self-citationTargeting RNA to treat neuromuscular disease
Francesco Muntoni, A., & Wood, M. J. A. (2011) · Nature Reviews Drug Discovery · doi:10.1038/nrd3459 · Cited by 154 · 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
CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1
Ward, A. J., Rimer, M., Killian, J. M., Dowling, J. J., & Cooper, T. A. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq277 · Cited by 146 · 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
Michelle, L., Cloutier, A., Toutant, J., Shkreta, L., Thibault, P., Durand, M., Garneau, D., Gendron, D., Lapointe, E., Couture, S., et al. (2011) · Molecular and Cellular Biology · doi:10.1128/mcb.06130-11 · Cited by 133 · see citing works
Lee, J. E., Lee, J. Y., Wilusz, J., Tian, B., & Wilusz, C. J. (2010) · PLoS ONE · doi:10.1371/journal.pone.0011201 · Cited by 133 · see citing works
RNA Sequence Context Effects Measured In Vitro Predict In Vivo Protein Binding and Regulation
Taliaferro, J. M., Lambert, N. J., Sudmant, P. H., Dominguez, D., Merkin, J. J., Alexis, M. S., Bazile, C. A., & Burge, C. B. (2016) · Molecular Cell · doi:10.1016/j.molcel.2016.08.035 · Cited by 130 · see citing works
Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9
Pinto, B. S., Saxena, T., Oliveira, R., Méndez‐Gómez, H. R., Cleary, J. D., Denes, L. T., McConnell, O. L., Arboleda, J. D., Xia, G., Swanson, M. S., et al. (2017) · Molecular Cell · doi:10.1016/j.molcel.2017.09.033 · Cited by 130 · see citing works
Self-citationFeng, H., Bao, S., Rahman, M. A., Weyn‐Vanhentenryck, S. M., Khan, A., Wong, J., Shah, A., Flynn, E. D., Krainer, A. R., & Zhang, C. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.02.002 · Cited by 119 · see citing works
Gene expression during normal and FSHD myogenesis
Tsumagari, K., Chang, S.-C., Lacey, M. R., Baribault, C., Chittur, S. V., Sowden, J. E., Tawil, R., Crawford, G. E., & Ehrlich, M. (2011) · BMC Medical Genomics · doi:10.1186/1755-8794-4-67 · Cited by 117 · see citing works
Competition between Pre-mRNAs for the Splicing Machinery Drives Global Regulation of Splicing
Munding, E. M., Shiue, L., Katzman, S. J., Donohue, J. P., & Ares, M. (2013) · Molecular Cell · doi:10.1016/j.molcel.2013.06.012 · Cited by 118 · see citing works
Self-citationExon identity crisis: disease-causing mutations that disrupt the splicing code
Sterne-Weiler, T., & Sanford, J. R. (2014) · Genome biology · doi:10.1186/gb4150 · Cited by 117 · see citing works
Short 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-citationWagner, S. D., Struck, A. J., Gupta, R., Farnsworth, D. R., Mahady, A. E., Eichinger, K. J., Thornton, C. A., Wang, E. T., & Berglund, J. A. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1006316 · Cited by 116 · 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
Targeting Toxic RNAs that Cause Myotonic Dystrophy Type 1 (DM1) with a Bisamidinium Inhibitor
Wong, C., Nguyen, L., Peh, J., Luu, L. M., Sanchez, J. S., Richardson, S. L., Tuccinardi, T., Tsoi, H., Chan, W. Y., Chan, H. Y. E., et al. (2014) · Journal of the American Chemical Society · doi:10.1021/ja5012146 · Cited by 104 · see citing works
Role of RBM25/LUC7L3 in Abnormal Cardiac Sodium Channel Splicing Regulation in Human Heart Failure
Gao, G., Xie, A., Huang, S., Zhou, A., Zhang, J., Herman, A. M., Ghassemzadeh, S., Jeong, E.-M., Kasturirangan, S., Raicu, M., et al. (2011) · Circulation · doi:10.1161/circulationaha.111.044495 · Cited by 103 · see citing works
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity
Zarouchlioti, C., Sanchez-Pintado, B., Hafford‐Tear, N. J., Klein, P., Lišková, P., Dulla, K., Semo, M., Vugler, A., Muthusamy, K., Ďuďáková, Ľ., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.02.010 · Cited by 101 · see citing works
Developments in RNA Splicing and Disease
Poulos, M. G., Batra, R., Charizanis, K., & Swanson, M. S. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a000778 · Cited by 98 · see citing works
Self-citationRbfox-regulated alternative splicing is critical for zebrafish cardiac and skeletal muscle functions
Gallagher, T. L., Arribere, J. A., Geurts, P., Exner, C. R. T., McDonald, K. L., Dill, K. K., Marr, H., Adkar, S. S., Garnett, A. T., Amacher, S. L., et al. (2011) · Developmental Biology · doi:10.1016/j.ydbio.2011.08.025 · Cited by 98 · 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 dystrophy mouse models: towards rational therapy development
Gomes-Pereira, M., Cooper, T. A., & Gourdon, G. (2011) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2011.05.004 · Cited by 95 · see citing works
Dastidar, S., Ardui, S., Singh, K., Majumdar, D., Nair, N., Fu, Y., Reyon, D., Samara-Kuko, E., Gerli, M., Klein, A. F., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky548 · Cited by 96 · see citing works
Muscleblind-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-citationMuscle wasting in myotonic dystrophies: a model of premature aging
Mateos-Aierdi, A. J., Goicoechea, M., Aiastui, A., Fernández‐Torrón, R., García-Puga, M., Matheu, A., & de Munaín, A. L. (2015) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2015.00125 · Cited by 92 · see citing works
Molecular mechanisms in DM1 — a focus on foci
Pettersson, O. J., Aagaard, L., Jensen, T. G., & Damgaard, C. K. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv029 · Cited by 95 · see citing works
García-López, A., Llamusí, B., Orzáez, M., Pérez‐Payá, E., & Artero, R. D. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1018213108 · Cited by 95 · see citing works
Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules
Childs‐Disney, J. L., Stępniak-Konieczna, E., Tran, T. A., Yildirim, I., Park, H., Chen, C. Z., Hoskins, J. W., Southall, N. T., Marugán, J., Patnaik, S., et al. (2013) · Nature Communications · doi:10.1038/ncomms3044 · Cited by 95 · see citing works
Self-citationWei, C., Qiu, J., Zhou, Y., Xue, Y., Hu, J., Ouyang, K., Banerjee, I., Zhang, C., Chen, B., Li, H., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.02.013 · Cited by 92 · see citing works
Wojtkowiak-Szlachcic, A., Taylor, K., Stępniak-Konieczna, E., Sznajder, Ł. J., Mykowska, A., Sroka, J., Thornton, C. A., & Sobczak, K. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv163 · Cited by 90 · see citing works
Self-citationCerro-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
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
Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I
Brockhoff, M., Rion, N., Chojnowska, K., Wiktorowicz, T., Eickhorst, C., Erne, B., Frank, S., Angelini, C. I., Furling, D., Rüegg, M. A., et al. (2017) · Journal of Clinical Investigation · doi:10.1172/jci89616 · Cited by 88 · see citing works
Reducing Levels of Toxic RNA with Small Molecules
Coonrod, L. A., Nakamori, M., Wang, W., Carrell, S., Hilton, C. L., Bodner, M. J., Siboni, R. B., Docter, A. G., Haley, M. M., Thornton, C. A., et al. (2013) · ACS Chemical Biology · doi:10.1021/cb400431f · Cited by 87 · see citing works
Self-citationAlternative splicing in EMT and TGF-β signaling during cancer progression
Zhang, Y. E., & Stuelten, C. H. (2024) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2024.04.001 · Cited by 95 · see citing works
In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin
Laustriat, D., Gide, J., Barrault, L., Chautard, É., Benoit‐Pilven, C., Auboeuf, D., Boland, A., Battail, C., Artiguenave, F., Deleuze, J., et al. (2015) · Molecular Therapy — Nucleic Acids · doi:10.1038/mtna.2015.35 · Cited by 83 · see citing works
Autoregulated Splicing of muscleblind-like 1 (MBNL1) Pre-mRNA
Gates, D. P., Coonrod, L. A., & Berglund, J. A. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.236547 · Cited by 82 · see citing works
Tran, H., Marmier‐Gourrier, N., Lemercier-Neuillet, C., Dhaenens, C., Vautrin, A., Fernández-Gómez, F.-J., Arandel, L., Carpentier, C., Obriot, H., Eddarkaoui, S., et al. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.194928 · Cited by 82 · see citing works
Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise
Chamberlain, C. M., & Ranum, L. P. W. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds306 · Cited by 81 · see citing works
Skeletal Muscle Degenerative Diseases and Strategies for Therapeutic Muscle Repair
Tabebordbar, M., Wang, E. T., & Wagers, A. J. (2013) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-011811-132450 · Cited by 79 · see citing works
Bargiela, A., Cerro-Herreros, E., Fernández‐Costa, J. M., Vilchez, J. J., Llamusí, B., & Artero, R. D. (2015) · Disease Models & Mechanisms · doi:10.1242/dmm.018127 · Cited by 77 · see citing works
Mechanistic determinants of MBNL activity
Sznajder, Ł. J., Michalak, M., Taylor, K., Cywoniuk, P., Kabza, M., Wojtkowiak-Szlachcic, A., Matłoka, M., Konieczny, P., & Sobczak, K. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw915 · Cited by 76 · see citing works
Fernández‐Costa, J. M., García-López, A., Zúñiga, S., Fernández‐Pedrosa, V., Felipo-Benavent, A., Mata, M., Jaka, O., Aiastui, A., Hernández‐Torres, F., Aguado, B., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds478 · Cited by 74 · see citing works
Developmental insights into the pathology of and therapeutic strategies for DM1: Back to the basics
Chau, A. C., & Kalsotra, A. (2014) · Developmental Dynamics · doi:10.1002/dvdy.24240 · Cited by 74 · see citing works
Antisense Oligonucleotide-Based Therapies for Diseases Caused by pre-mRNA Processing Defects
Rigo, F., Seth, P. P., & Bennett, C. F. (2014) · Advances in experimental medicine and biology · doi:10.1007/978-1-4939-1221-6_9 · Cited by 71 · see citing works
Triplet repeats in transcripts: structural insights into RNA toxicity
Galka-Marciniak, P., Urbanek-Trzeciak, M. O., & Krzyżosiak, W. J. (2012) · Biological Chemistry · doi:10.1515/hsz-2012-0218 · Cited by 72 · see citing works
Renoux, A. J., & Todd, P. K. (2011) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2011.10.006 · 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-citationMBNL1 regulates essential alternative RNA splicing patterns in MLL-rearranged leukemia
Itskovich, S. S., Gurunathan, A., Clark, J. P., Burwinkel, M., Wunderlich, M., Berger, M. R., Kulkarni, A., Chetal, K., Venkatasubramanian, M., Salomonis, N., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-15733-8 · Cited by 70 · see citing works
Sicot, G., & Gomes-Pereira, M. (2013) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2013.03.002 · Cited by 68 · see citing works
Prediction 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-citationAbnormalities in Skeletal Muscle Myogenesis, Growth, and Regeneration in Myotonic Dystrophy
André, L. M., Ausems, C. R. M., Wansink, D. G., & Wieringa, B. (2018) · Frontiers in Neurology · doi:10.3389/fneur.2018.00368 · Cited by 68 · see citing works
Paul, S., Dansithong, W., Jog, S. P., Holt, I., Mittal, S., Brook, J. D., Morris, G. E., Comai, L., & Reddy, S. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.255224 · Cited by 67 · see citing works
Misregulation of alternative splicing in a mouse model of Rett syndrome
Li, R., Dong, Q., Yuan, X., Zeng, X., Gao, Y., Chiao, C., Li, H., Zhao, X., Keles, S., Wang, Z., et al. (2016) · PLOS Genetics · doi:10.1371/journal.pgen.1006129 · Cited by 67 · see citing works
Transcriptome 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-citationPantic, B., Trevisan, E., Citta, A., Rigobello, M. P., Marin, O., Bernardi, P., Salvatori, S., & Rasola, A. (2013) · Cell Death and Disease · doi:10.1038/cddis.2013.385 · Cited by 63 · see citing works
Klinck, R., Fourrier, A., Thibault, P., Toutant, J., Durand, M., Lapointe, E., Caillet‐Boudin, M., Sergeant, N., Gourdon, G., Meola, G., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0107324 · Cited by 63 · see citing works
MBNL expression in autoregulatory feedback loops
Konieczny, P., Stępniak-Konieczna, E., & Sobczak, K. (2017) · RNA Biology · doi:10.1080/15476286.2017.1384119 · Cited by 60 · see citing works
RNAmotifs: prediction of multivalent RNA motifs that control alternative splicing
Cereda, M., Pozzoli, U., Rot, G., Juvan, P., Schweitzer, A. C., Clark, T. A., & Ule, J. (2014) · Genome biology · doi:10.1186/gb-2014-15-1-r20 · Cited by 58 · see citing works
Self-citationGao, Z., & Cooper, T. A. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1308806110 · Cited by 58 · see citing works
Decoding muscle alternative splicing
Llorian, M., & Smith, C. W. J. (2011) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2011.03.006 · Cited by 57 · see citing works
Antoury, L., Hu, N., Balaj, L., Das, S., Georghiou, S., Darras, B. T., Clark, T., Breakefield, X. O., & Wheeler, T. M. (2018) · Nature Communications · doi:10.1038/s41467-018-06206-0 · Cited by 57 · see citing works
Self-citationBatra, R., Nelles, D. A., Roth, D., Krach, F., Nutter, C. A., Tadokoro, T., Thomas, J. D., Sznajder, Ł. J., Blue, S. M., Gutierrez, H. L., et al. (2020) · Nature Biomedical Engineering · doi:10.1038/s41551-020-00607-7 · Cited by 57 · see citing works
Self-citation
- 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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