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

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DNA repair deficiency and neurological disease

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McKinnon, Peter J.·2009·Nature Reviews Neuroscience

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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.
ORCID: McKinnon, Peter J.
Venue: Nature Reviews Neuroscience
Publisher: Springer Science and Business Media LLC
Published: 2009-01-15
Volume: 10
Issue: 2
Pages: 100-112
ISSN: 1471-003X (ISSN-L)
1471-0048
DOI: 10.1038/nrn2559
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
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
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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