The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Out of Balance: R-loops in Human Disease
Open accessAbstract
R-loops are cellular structures composed of an RNA/DNA hybrid, which is formed when the RNA hybridises to a complementary DNA strand and a displaced single-stranded DNA. R-loops have been detected in various organisms from bacteria to mammals and play crucial roles in regulating gene expression, DNA and histone modifications, immunoglobulin class switch recombination, DNA replication, and genome stability. Recent evidence suggests that R-loops are also involved in molecular mechanisms of neurological diseases and cancer. In addition, mutations in factors implicated in R-loop biology, such as RNase H and SETX (senataxin), lead to devastating human neurodegenerative disorders, highlighting the importance of correctly regulating the level of R-loops in human cells. In this review we summarise current advances in this field, with a particular focus on diseases associated with dysregulation of R-loop structures. We also discuss potential therapeutic approaches for such diseases and highlight future research directions.
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Cites
C9orf72 nucleotide repeat structures initiate molecular cascades of disease
Haeusler, A. R., Donnelly, C. J., Periz, G., Simko, E. A. J., Shaw, P. G., Kim, M.-S., Maragakis, N. J., Troncoso, J. C., Pandey, A., Sattler, R., et al. (2014) · Nature · doi:10.1038/nature13124 · Cited by 978
Repeat instability as the basis for human diseases and as a potential target for therapy
López Castel, A., Cleary, J. D., & Pearson, C. E. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2854 · Cited by 429
Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity
Hiller, B., Achleitner, M., Glage, S., Naumann, R., Behrendt, R., & Roers, A. (2012) · Journal of Experimental Medicine · doi:10.1084/jem.20120876 · Cited by 245
Meng, L., Person, R. E., & Beaudet, A. L. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds130 · Cited by 202
Rydberg, B., & Game, J. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.262591699 · Cited by 191
PCNA directs type 2 RNase H activity on DNA replication and repair substrates
Bubeck, D., Reijns, M. A. M., Graham, S. C., Astell, K. R., Jones, E. Y., & Jackson, A. P. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkq980 · Cited by 144
Richard, P., Feng, S., & Manley, J. L. (2013) · Genes & Development · doi:10.1101/gad.224923.113 · Cited by 118
Cited by
R-Loops as Cellular Regulators and Genomic Threats
Crossley, M. P., Bocek, M., & Cimprich, K. A. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.01.024 · Cited by 746
The regulation and functions of the nuclear RNA exosome complex
Kilchert, C., Wittmann, S., & Vasiljeva, L. (2016) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2015.15 · Cited by 462
Cristini, A., Groh, M., Kristiansen, M. S., & Gromak, N. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.04.025 · Cited by 423
Self-citationThe Fanconi Anemia Pathway Maintains Genome Stability by Coordinating Replication and Transcription
Schwab, R. A., Nieminuszczy, J., Shah, F., Langton, J., Lopez Martinez, D., Liang, C.-C., Cohn, M. A., Gibbons, R. J., Deans, A. J., & Niedzwiedz, W. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.09.012 · Cited by 361
Functions of Replication Protein A as a Sensor of R Loops and a Regulator of RNaseH1
Nguyen, H. D., Yadav, T., Giri, S., Saez, B., Graubert, T. A., & Zou, L. (2017) · Molecular Cell · doi:10.1016/j.molcel.2017.01.029 · Cited by 267
Metadata
- Authors
- Groh, M., & Gromak, N.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2014-09-18
- Volume
- 10
- Issue
- 9
- Pages
- e1004630
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- OpenAlex
- W1983289953
- Cited by
- 200
- References
- 7
- FWCI
- 6.21
- Type
- journal article
- Language
- en
- Open access
- gold
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