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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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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