期刊
DNA REPAIR
卷 12, 期 8, 页码 558-567出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.dnarep.2013.04.008
关键词
DNA damage; DNA repair; neurodegeneration; development; ataxia; microcephaly
资金
- Medical Research Council [MR/J006750/1] Funding Source: researchfish
- MRC [MR/J006750/1] Funding Source: UKRI
- Medical Research Council [MR/J006750/1] Funding Source: Medline
A number of DNA repair disorders are known to cause neurological problems. These disorders can be broadly characterised into early developmental, mid-to-late developmental or progressive. The exact developmental processes that are affected can influence disease pathology, with symptoms ranging from early embryonic lethality to late-onset ataxia. The category these diseases belong to depends on the frequency of lesions arising in the brain, the role of the defective repair pathway, and the nature of the mutation within the patient. Using observations from patients and transgenic mice, we discuss the importance of double strand break repair during neuroprogenitor proliferation and brain development and the repair of single stranded lesions in neuronal function and maintenance. (C) 2013 Elsevier B.V. All rights reserved.
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