DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1
DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1
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DOI：
10.1016/j.neuroscience.2006.08.048
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发表时间：
2007-04-14
期刊：
影响因子：
3.3
通讯作者：
Caldecott, K. W.
中科院分区：
文献类型：
--
作者：
El-Khamisy, S. F.;Caldecott, K. W.
DNA单链断裂（SSB）是细胞中自发发生的最常见的DNA损伤，如果不修复，可能会阻止转录或可能转化为潜在的致死/致染色体断裂的DNA双链断裂（DSB）。最近，有证据表明SSB快速修复的缺陷优先影响神经系统。特别地，脊髓小脑共济失调伴轴突神经病（SCAN 1）是与TDP 1（酪氨酰DNA磷酸二酯酶1）蛋白突变和修复某些类型SSB的缺陷相关的人类疾病。虽然SCAM是一种罕见的神经退行性疾病，但了解这种疾病的分子基础将有助于更好地了解神经退行性过程。在这里，我们回顾了最近的进展，我们的理解TDP 1，单链断裂修复（SSBR）和神经退行性疾病。(C)2006年IBRO。由爱思唯尔有限公司出版。保留所有权利。
DNA single-strand breaks (SSBs) are the commonest DNA lesions arising spontaneously in cells, and if not repaired may block transcription or may be converted into potentially lethal/clastogenic DNA double-strand breaks (DSBs). Recently, evidence has emerged that defects in the rapid repair of SSBs preferentially impact the nervous system. In particular, spinocerebellar ataxia with axonal neuropathy (SCAN1) is a human disease that is associated with mutation of TDP1 (tyrosyl DNA phosphodiesterase 1) protein and with a defect in repairing certain types of SSBs. Although SCAM is a rare neurodegenerative disorder, understanding the molecular basis of this disease will lead to better understanding of neurodegenerative processes. Here we review recent progress in our understanding of TDP1, single-strand break repair (SSBR), and neurodegenerative disease. (C) 2006 IBRO. Published by Elsevier Ltd. All rights reserved.