Cited by 323DNA Repair MechanismsGenetics and Neurodevelopmental DisordersGenetic factors in colorectal cancer

DNA repair deficiency and neurological disease

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McKinnon, Peter J.·2009·Nature Reviews Neuroscience

Abstract

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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Authors
McKinnon, P. J.
Affiliations
St. Jude Children's Research Hospital (US)
Corresponding author
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
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
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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