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DNA single-strand breaks and neurodegeneration
journal contributionposted on 2023-06-08, 06:34 authored by Keith CaldecottKeith Caldecott
The association of human genetic disorders with defects in the DNA damage response is well established. Most of the major DNA repair pathways are represented by diseases in which that pathway is absent or impaired, including those responsible for repairing DNA double-strand breaks. Conspicuous by their absence, however, have been human disorders associated with defects in the repair or response to DNA single-strand breaks (SSBs). However, three papers have recently associated hereditary spinocerebellar ataxia with mutations in genes connected with SSBR. The emerging links between SSBR and neurodegeneration are discussed.
Department affiliated with
- Sussex Centre for Genome Damage Stability Publications
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