The DOI matches its Crossref record; 12 of the 12 references it cites were found in a registry or an index.
Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9
Open accessAbstract
SUMMARY Microsatellite repeat expansions in DNA produce pathogenic RNA species that cause dominantly inherited diseases such as myotonic dystrophy type 1 and 2 (DM1/2), Huntington’s disease, and C9orf72-linked amyotrophic lateral sclerosis (C9-ALS). Means to target these repetitive RNAs are required for diagnostic and therapeutic purposes. Here, we describe the development of a programmable CRISPR system capable of specifically visualizing and eliminating these toxic RNAs. We observe specific targeting and efficient elimination of micro-satellite repeat expansion RNAs both when exogenously expressed and in patient cells. Importantly, RNA-targeting Cas9 (RCas9) reverses hallmark features of disease including elimination of RNA foci among all conditions studied (DM1, DM2, C9-ALS, polyglutamine diseases), reduction of polyglutamine protein products, relocalization of repeat-bound proteins to resemble healthy controls, and efficient reversal of DM1-associated splicing abnormalities in patient myotubes. Finally, we report a truncated RCas9 system compatible with adeno-associated viral packaging. This effort highlights the potential of RCas9 for human therapeutics.
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Self-citation
Cited by
The Biogenesis, Functions, and Challenges of Circular RNAs
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Transcriptome Engineering with RNA-Targeting Type VI-D CRISPR Effectors
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Metadata
- Authors
- Batra, R., Nelles, D. A., Pirie, E., Blue, S. M., Marina, R. J., Wang, H., Chaim, I. A., Thomas, J. D., Zhang, N., Nguyen, V., Aigner, S., Markmiller, S., Xia, G., Corbett, K. D., Swanson, M. S., & Yeo, G. W.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2017-08
- Volume
- 170
- Issue
- 5
- Pages
- 899-912.e10
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2742741050
- Cited by
- 252
- References
- 12
- FWCI
- 12.33
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Batra, R., Nelles, D. A., Pirie, E., Blue, S. M., Marina, R. J., Wang, H., Chaim, I. A., Thomas, J. D., Zhang, N., Nguyen, V., Aigner, S., Markmiller, S., Xia, G., Corbett, K. D., Swanson, M. S., & Yeo, G. W. (2017). Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9. Cell. https://doi.org/10.1016/j.cell.2017.07.010
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