Abstract
Hereditary defects in the repair of DNA damage are implicated in a variety of diseases, many of which are typified by neurological dysfunction and/or increased genetic instability and cancer. Of the different types of DNA damage that arise in cells, single-strand breaks (SSBs) are the most common, arising at a frequency of tens of thousands per cell per day from direct attack by intracellular metabolites and from spontaneous DNA decay. Here, the molecular mechanisms and organization of the DNA-repair pathways that remove SSBs are reviewed and the connection between defects in these pathways and hereditary neurodegenerative disease are discussed.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Apraxias / genetics
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Cell Cycle / genetics
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Cell Cycle / physiology
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Chromosomes
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DNA Breaks, Double-Stranded
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DNA Breaks, Single-Stranded*
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DNA Repair / genetics
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DNA Repair / physiology*
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DNA-Binding Proteins / genetics
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DNA-Binding Proteins / physiology
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Genetic Diseases, Inborn / genetics*
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Humans
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Models, Biological
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Neoplasms / genetics
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Nerve Degeneration / genetics
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Nuclear Proteins / genetics
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Nuclear Proteins / physiology
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Oculomotor Nerve Diseases / genetics
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Phosphoric Diester Hydrolases / genetics
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Phosphoric Diester Hydrolases / physiology
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Spinocerebellar Ataxias / genetics
Substances
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APTX protein, human
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DNA-Binding Proteins
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Nuclear Proteins
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Phosphoric Diester Hydrolases
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TDP1 protein, human