The DOI matches its Crossref record; 204 of the 204 references it cites were found in a registry or an index.
DNA repair deficiency and neurological disease
Open accessAbstract
The ability to respond to genotoxic stress is a prerequisite for the successful development of the nervous system. Mutations in various DNA repair factors can lead to human diseases that are characterized by pronounced neuropathology. In many of these syndromes the neurological component is among the most deleterious aspects of the disease. The nervous system poses a particular challenge in terms of clinical intervention, as the neuropathology associated with these diseases often arises during nervous system development and can be fully penetrant by childhood. Understanding how DNA repair deficiency affects the nervous system will provide a rational basis for therapies targeted at ameliorating the neurological problems in these syndromes.
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“Deficiencies in DNA repair are known to underlie several neurological conditions in both humans and animal models [103, 147].”
From DNA repair deficiency and senescence in concussed professional athletes involved in contact sports (2019) · cites this paper as [103]
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Items 201–204 of 204
The RecQ DNA helicases: Jacks-of-all-trades or master-tradesmen?
Hunter, N. M. (2008) · Cell Research · doi:10.1038/cr.2008.33 · Cited by 13
Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation
Nahas, S., Duquette, A., Roddier, K., Gatti, R. A., & Brais, B. (2007) · Neuromuscular Disorders · doi:10.1016/j.nmd.2007.06.464 · Cited by 12
MR evidence of structural and metabolic changes in brains of patients with Werner?s syndrome
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Ataxia-teleangectasia: neurophysiological studies in 8 patients.
Lelli, S., Trevisan, C., & Negrin, P. (1996) · PubMed · Cited by 7
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Playing the End Game: DNA Double-Strand Break Repair Pathway Choice
Chapman, J. R., Taylor, M. R. G., & Boulton, S. J. (2012) · Molecular Cell · doi:10.1016/j.molcel.2012.07.029 · Cited by 1,728
Balancing repair and tolerance of DNA damage caused by alkylating agents
Fu, D., Calvo, J. A., & Samson, L. D. (2012) · Nature reviews. Cancer · doi:10.1038/nrc3185 · Cited by 977
DNA repair mechanisms in dividing and non-dividing cells
Iyama, T., & Wilson, D. M. (2013) · DNA Repair · doi:10.1016/j.dnarep.2013.04.015 · Cited by 697
Ataxia telangiectasia: a review
Rothblum‐Oviatt, C., Wright, J., Lefton‐Greif, M. A., McGrath‐Morrow, S. A., Crawford, T. O., & Lederman, H. M. (2016) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-016-0543-7 · Cited by 692
Chapman, J. R., Barral, P., Vannier, J., Borel, V., Steger, M., Tomás‐Loba, A., Sartori, A. A., Adams, I. R., Batista, F. D., & Boulton, S. J. (2013) · Molecular Cell · doi:10.1016/j.molcel.2013.01.002 · Cited by 663
Metadata
- Authors
- McKinnon, P. J.
- Affiliations
- St. Jude Children's Research Hospital (US)
- Corresponding author
- McKinnon, Peter J.
- ORCID
- McKinnon, Peter J.
- Venue
- Nature Reviews Neuroscience
- Published
- 2009-01-15
- Volume
- 10
- Issue
- 2
- Pages
- 100-112
- ISSN
- 1471-003X (ISSN-L)
- 1471-0048
- PMC
- PMC3064843
- OpenAlex
- W2026709018
- Cited by
- 323
- References
- 204
- Citations by year
- 2026: 15 · 2025: 12 · 2024: 15 · 2023: 15 · 2022: 30 · 2021: 24 · 2020: 23 · 2019: 14 · 2018: 16 · 2017: 22 · 2016: 19 · 2015: 21 · 2014: 18 · 2013: 28 · 2012: 18
- FWCI
- 1.32
- Type
- journal article
- Language
- en
- Update notices
- erratum (2009-01-27)
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature reviews. Neuroscience (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- U.S. Bureau of Land Management
- National Cancer Institute (P01CA096832)
- National Institute of Neurological Disorders and Stroke (R01NS037956)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- DNA repair deficiency, DNA damage, brain development, neurological disorders, genotoxic stress, DNA repair mutations, neuropathology, neurodevelopmental disorders
- MeSH terms
- Animals, Humans, Nervous System Diseases, DNA Repair-Deficiency Disorders
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