期刊
NATURE REVIEWS NEUROSCIENCE
卷 10, 期 2, 页码 100-112出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nrn2559
关键词
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资金
- US National Institutes of Health
- American Lebanese Syrian Associated Charities of St Jude Children's Research Hospital
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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