The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
Disruption of Splicing Regulated by a CUG-Binding Protein in Myotonic Dystrophy
Abstract
Myotonic dystrophy (DM) is caused by a CTG expansion in the 3′ untranslated region of the DM gene. One model of DM pathogenesis suggests that RNAs from the expanded allele create a gain-of-function mutation by the inappropriate binding of proteins to the CUG repeats. Data presented here indicate that the conserved heterogeneous nuclear ribonucleoprotein, CUG-binding protein (CUG-BP), may mediate the trans-dominant effect of the RNA. CUG-BP was found to bind to the human cardiac troponin T (cTNT) pre–messenger RNA and regulate its alternative splicing. Splicing of cTNT was disrupted in DM striated muscle and in normal cells expressing transcripts that contain CUG repeats. Altered expression of genes regulated posttranscriptionally by CUG-BP therefore may contribute to DM pathogenesis.
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Pre-mRNA splicing and human disease
Faustino, N. A., & Cooper, T. A. (2003) · Genes & Development · doi:10.1101/gad.1048803 · Cited by 1,256
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Mirkin, S. M. (2007) · Nature · doi:10.1038/nature05977 · Cited by 934
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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
Metadata
- Authors
- Philips, A. V., Timchenko, L. T., & Cooper, T. A.
- Venue
- Science
- Published
- 1998-05
- Volume
- 280
- Issue
- 5364
- Pages
- 737-741
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2020334159
- Cited by
- 818
- References
- 15
- FWCI
- 13.57
- Type
- journal article
- Language
- en
- Open access
- closed
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- Philips, A. V., Timchenko, L. T., & Cooper, T. A. (1998). Disruption of Splicing Regulated by a CUG-Binding Protein in Myotonic Dystrophy. Science. https://doi.org/10.1126/science.280.5364.737
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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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