DNA strand break repair and neurodegeneration
DNA strand break repair and neurodegeneration
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DOI：
10.1016/j.dnarep.2013.04.008
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发表时间：
2013-08-01
期刊：
影响因子：
3.8
通讯作者：
Caldecott, Keith W.
中科院分区：
文献类型：
--
作者：
Rulten, Stuart L.;Caldecott, Keith W.
众所周知，许多DNA修复障碍会导致神经问题。这些疾病大致可分为早期发育、中晚期发育或进展性。受影响的确切发育过程可能会影响疾病的病理，症状从早期胚胎死亡到晚发型共济失调。这些疾病所属的类别取决于大脑中出现损伤的频率、缺陷修复途径的作用以及患者体内突变的性质。通过对患者和转基因小鼠的观察，我们讨论了双链断裂修复在神经前体细胞增殖和脑发育过程中的重要性，以及单链损伤修复在神经元功能和维持中的重要性。(C)2013爱思唯尔B.V.保留所有权利。
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.