The DOI matches its Crossref record; 60 of the 60 references it cites were found in a registry or an index.
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
Open accessAbstract
Significance: The most frequent genetic cause of ALS and frontotemporal degeneration is a hexanucleotide expansion in a noncoding region of the C9orf72 gene. Similar to other repeat expansion diseases, we characterize the hallmark feature of repeat expansion RNA-mediated toxicity: nuclear RNA foci. Remarkably, two distinct sets of foci are found, one containing RNAs transcribed in the sense direction and the other containing antisense RNAs. Antisense oligonucleotides (ASOs) are developed that selectively target sense strand repeat-containing RNAs and reduce sense-oriented foci without affecting overall C9orf72 expression. Importantly, reducing C9orf72 expression does not cause behavioral or pathological changes in mice and induces only a few genome-wide mRNA alterations. These findings establish ASO-mediated degradation of repeat-containing RNAs as a significant therapeutic approach.
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Cites
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“The extent of hexanucleotide-containing RNA foci in tissues of the CNS was determined by FISH for 3 C9orf72 ALS or ALS/FTD nervous systems and 25 nervous systems not carrying a C9orf72 abnormal expansion (SI Appendix, Table 2).”
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Cited by
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The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.
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C9orf72 nucleotide repeat structures initiate molecular cascades of disease
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Metadata
- Authors
- Lagier-Tourenne, C., Baughn, M., Rigo, F., Sun, S., Liu, P., Li, H.-R., Jiang, J., Watt, A. T., Chun, S., Katz, M., Qiu, J., Sun, Y., Ling, S.-C., Zhu, Q., Polymenidou, M., Drenner, K., Artates, J. W., McAlonis-Downes, M., Markmiller, S., Hutt, K. R., Pizzo, D. P., Cady, J., Harms, M. B., Baloh, R. H., Vandenberg, S. R., Yeo, G. W., Fu, X.-D., Bennett, C. F., Cleveland, D. W., & Ravits, J.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2013-10-29
- Volume
- 110
- Issue
- 47
- Pages
- E4530-9
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2128739333
- Cited by
- 561
- References
- 60
- FWCI
- 34.38
- Type
- journal article
- Language
- en
- Open access
- green
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- Lagier-Tourenne, C., Baughn, M., Rigo, F., Sun, S., Liu, P., Li, H.-R., Jiang, J., Watt, A. T., Chun, S., Katz, M., Qiu, J., Sun, Y., Ling, S.-C., Zhu, Q., Polymenidou, M., Drenner, K., Artates, J. W., McAlonis-Downes, M., Markmiller, S., . . . Ravits, J. (2013). Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1318835110
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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