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DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1

journal contribution
posted on 2023-06-07, 14:19 authored by S F El-Khamisy, Keith CaldecottKeith Caldecott
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 SCAN1 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.

History

Publication status

  • Published

Journal

Neuroscience

ISSN

0306-4522

Publisher

Elsevier

Issue

4

Volume

145

Page range

1260-1266

Department affiliated with

  • Sussex Centre for Genome Damage Stability Publications

Full text available

  • Yes

Peer reviewed?

  • Yes

Legacy Posted Date

2007-10-08

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    University of Sussex (Publications)

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