Abstract
DNA single-strand breaks (SSBs) are the commonest DNA lesions that arise spontaneously in living cells. Cells employ efficient processes for the rapid repair of these breaks and defects in these processes appear to preferentially impact on the nervous system, causing human ataxia. Spinocerebellar ataxia with axonal neuropathy (SCAN1) is a human disease that is associated with a defect in repairing certain types of SSBs. Although it is a rare neurodegenerative disease, understanding the molecular basis of SCAN1 will lead to better understanding of the mechanisms that underpin not only neurodegeneration but also cancer.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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DNA Damage
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DNA Repair
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DNA Replication
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Humans
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Models, Biological
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Mutation
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Neoplasms / metabolism
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Neurodegenerative Diseases / genetics*
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Neurodegenerative Diseases / pathology*
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Phosphoric Diester Hydrolases / genetics
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Phosphoric Diester Hydrolases / physiology*
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Saccharomyces cerevisiae Proteins / genetics
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Saccharomyces cerevisiae Proteins / physiology*
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Spinocerebellar Ataxias / genetics*
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Spinocerebellar Ataxias / metabolism
Substances
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Saccharomyces cerevisiae Proteins
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Phosphoric Diester Hydrolases
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TDP1 protein, human
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Tdp1 protein, S cerevisiae