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RNA and Disease
Open accessAbstract
Cellular functions depend on numerous protein-coding and non-coding RNAs and the RNA-binding proteins associated with them, which form ribonucleoprotein complexes (RNPs). Mutations that disrupt either the RNA or protein components of RNPs or the factors required for their assembly can be deleterious. Alternative splicing provides cells with an exquisite capacity to fine-tune their transcriptome and proteome in response to cues. Splicing depends on a complex code, numerous RNA-binding proteins and an enormously intricate network of interactions among them, increasing the opportunity for exposure to mutations and mis-regulation that cause disease. The discovery of disease-causing mutations in RNAs is yielding a wealth of new therapeutic targets, and the growing understanding of RNA biology and chemistry is providing new RNA-based tools for developing therapeutics.
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Citations
Cites
Alternative isoform regulation in human tissue transcriptomes
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Strong association of de novo copy number mutations with autism
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Control of translation and mRNA degradation by miRNAs and siRNAs: Table 1.
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Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
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“In one of two pathogenic effects of the RNA, MBNL1 colocalizes with the RNA foci and is depleted from the nucleoplasm more than 2-fold, resulting in aberrant regulation of MBNL1-sensitive splicing events (Figure 3B) (Lin et al., 2006).”
Influential
Cited by
Predicting splicing from primary sequence with deep learning
Jaganathan, K., Kyriazopoulou Panagiotopoulou, S., McRae, J. F., Darbandi, S. F., Knowles, D., Li, Y. I., Kosmicki, J. A., Arbelaez, J., Cui, W., Schwartz, G. B., et al. (2019) · Cell · doi:10.1016/j.cell.2018.12.015 · Cited by 2,853
Shen, S., Park, J. W., Lu, Z.-X., Lin, L., Henry, M. D., Wu, Y. N., Zhou, Q., & Xing, Y. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1419161111 · Cited by 2,713
Insights into RNA Biology from an Atlas of Mammalian mRNA-Binding Proteins
Castello, A., Fischer, B., Eichelbaum, K., Horos, R., Beckmann, B. M., Strein, C., Davey, N. E., Humphreys, D. T., Preiss, T., Steinmetz, L. M., et al. (2012) · Cell · doi:10.1016/j.cell.2012.04.031 · Cited by 2,132
A census of human RNA-binding proteins
Gerstberger, S., Hafner, M., & Tuschl, T. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3813 · Cited by 2,032
Analysis and design of RNA sequencing experiments for identifying isoform regulation
Katz, Y., Wang, E. T., Airoldi, E. M., & Burge, C. B. (2010) · Nature Methods · doi:10.1038/nmeth.1528 · Cited by 1,353
Metadata
- Authors
- Cooper, T. A., Wan, L., & Dreyfuss, G.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2009-02
- Volume
- 136
- Issue
- 4
- Pages
- 777-793
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2113525941
- Cited by
- 1,159
- References
- 18
- FWCI
- 36.37
- Type
- journal article
- Language
- en
- Open access
- bronze
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