The DOI matches its Crossref record; 45 of the 45 references it cites were found in a registry or an index.
Pentamidine reverses the splicing defects associated with myotonic dystrophy
Open accessAbstract
Myotonic dystrophy (DM) is a genetic disorder caused by the expression (as RNA) of expanded CTG or CCTG repeats. The alternative splicing factor MBNL1 is sequestered to the expanded RNA repeats, resulting in missplicing of a subset of pre-mRNAs linked to symptoms found in DM patients. Current data suggest that if MBNL1 is released from sequestration, disease symptoms may be alleviated. We identified the small molecules pentamidine and neomycin B as compounds that disrupt MBNL1 binding to CUG repeats in vitro. We show in cell culture that pentamidine was able to reverse the missplicing of 2 pre-mRNAs affected in DM, whereas neomycin B had no effect. Pentamidine also significantly reduced the formation of ribonuclear foci in tissue culture cells, releasing MBNL1 from the foci in the treated cells. Furthermore, pentamidine partially rescued splicing defects of 2 pre-mRNAs in mice expressing expanded CUG repeats.
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Citations
Cites
Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy
Miller, J. W. (2000) · The EMBO Journal · doi:10.1093/emboj/19.17.4439 · Cited by 937
Disruption of Splicing Regulated by a CUG-Binding Protein in Myotonic Dystrophy
Philips, A. V., Timchenko, L. T., & Cooper, T. A. (1998) · Science · doi:10.1126/science.280.5364.737 · Cited by 818
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., Logigian, E., Callahan, L., McClain, C., White, R., Henderson, D., Krym, M., & Thornton, C. A. (2000) · Science · doi:10.1126/science.289.5485.1769 · Cited by 737
Self-citationMankodi, A., Takahashi, M. P., Jiang, H., 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-citationTargeting RNA with Small Molecules
Thomas, J. R., & Hergenrother, P. J. (2008) · Chemical Reviews · doi:10.1021/cr0681546 · Cited by 647
Failure 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×
“RNA extraction and cDNA preparation were performed as described previously (49).”
MethodSelf-citationMuscleblind proteins regulate alternative splicing
Ho, T. H., Charlet‐B, 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
RNA-MEDIATED NEUROMUSCULAR DISORDERS
Ranum, L. P. W., & Cooper, T. A. (2006) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.29.051605.113014 · Cited by 477
Cited by
Scotti, M. M., & Swanson, M. S. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.3 · Cited by 1,163
Splicing biomarkers of disease severity in myotonic dystrophy
Nakamori, M., Sobczak, K., Puwanant, A., Welle, S., Eichinger, K., Pandya, S., Dekdebrun, J., Heatwole, C. R., McDermott, M. P., Chen, T., et al. (2013) · Annals of Neurology · doi:10.1002/ana.23992 · Cited by 265
Self-citationSkeletal 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
Metadata
- Authors
- Warf, M. B., Nakamori, M., Matthys, C. M., Thornton, C. A., & Berglund, J. A.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2009-11-03
- Volume
- 106
- Issue
- 44
- Pages
- 18551-18556
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2139919925
- Cited by
- 263
- References
- 45
- FWCI
- 8.28
- Type
- journal article
- Language
- en
- Open access
- green
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- Warf, M. B., Nakamori, M., Matthys, C. M., Thornton, C. A., & Berglund, J. A. (2009). Pentamidine reverses the splicing defects associated with myotonic dystrophy. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.0903234106
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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