The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.
Splicing biomarkers of disease severity in myotonic dystrophy
Open accessAbstract
Objective: To develop RNA splicing biomarkers of disease severity and therapeutic response in myotonic dystrophy type 1 (DM1) and type 2 (DM2). Methods: In a discovery cohort, we used microarrays to perform global analysis of alternative splicing in DM1 and DM2. The newly identified splicing changes were combined with previous data to create a panel of 50 putative splicing defects. In a validation cohort of 50 DM1 subjects, we measured the strength of ankle dorsiflexion (ADF) and then obtained a needle biopsy of tibialis anterior (TA) to analyze splice events in muscle RNA. The specificity of DM‐associated splicing defects was assessed in disease controls. The CTG expansion size in muscle tissue was determined by Southern blot. The reversibility of splicing defects was assessed in transgenic mice by using antisense oligonucleotides to reduce levels of toxic RNA. Results: Forty‐two splicing defects were confirmed in TA muscle in the validation cohort. Among these, 20 events showed graded changes that correlated with ADF weakness. Five other splice events were strongly affected in DM1 subjects with normal ADF strength. Comparison to disease controls and mouse models indicated that splicing changes were DM‐specific, mainly attributable to MBNL1 sequestration, and reversible in mice by targeted knockdown of toxic RNA. Splicing defects and weakness were not correlated with CTG expansion size in muscle tissue. Interpretation: Alternative splicing changes in skeletal muscle may serve as biomarkers of disease severity and therapeutic response in myotonic dystrophy. Ann Neurol 2013;74:862–872
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Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9
Liquori, C. L., Ricker, K., Moseley, M. L., Jacobsen, J. F., Kress, W., Naylor, S. L., Day, J. W., & Ranum, L. P. W. (2001) · Science · doi:10.1126/science.1062125 · Cited by 1,231
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-citationCharlet-B., 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
Myosin isoforms in mammalian skeletal muscle
Schiaffino, S., & Reggiani, C. (1994) · Journal of Applied Physiology · doi:10.1152/jappl.1994.77.2.493 · Cited by 539
Cited by
Lagier-Tourenne, C., Baughn, M., Rigo, F., Sun, S., Liu, P., Li, H.-R., Jiang, J., Watt, A. T., Chun, S., Katz, M., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1318835110 · Cited by 561
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
Self-citation(2023) · doi:10.1038/s41467-023-38923-6 · Cited by 21
Metadata
- Authors
- Nakamori, M., Sobczak, K., Puwanant, A., Welle, S., Eichinger, K., Pandya, S., Dekdebrun, J., Heatwole, C. R., McDermott, M. P., Chen, T., Cline, M., Tawil, R., Osborne, R. J., Wheeler, T. M., Swanson, M. S., Moxley, R. T., & Thornton, C. A.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2013-12
- Volume
- 74
- Issue
- 6
- Pages
- 862-872
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2141427674
- Cited by
- 265
- References
- 47
- FWCI
- 6.12
- Type
- journal article
- Language
- en
- Open access
- green
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- Nakamori, M., Sobczak, K., Puwanant, A., Welle, S., Eichinger, K., Pandya, S., Dekdebrun, J., Heatwole, C. R., McDermott, M. P., Chen, T., Cline, M., Tawil, R., Osborne, R. J., Wheeler, T. M., Swanson, M. S., Moxley, R. T., & Thornton, C. A. (2013). Splicing biomarkers of disease severity in myotonic dystrophy. Annals of Neurology. https://doi.org/10.1002/ana.23992
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