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Defects in cellular DNA repair processes have been linked to genome instability, heritable cancers, and premature aging syndromes. Yet defects in some repair processes manifest themselves primarily in neuronal tissues. This review focuses on studies defining the molecular defects associated with several human neurological disorders, particularly ataxia with oculomotor apraxia 1 (AOA1) and spinocerebellar ataxia with axonal neuropathy 1 (SCAN1). A picture is emerging to suggest that brain cells, due to their nonproliferative nature, may be particularly prone to the progressive accumulation of unrepaired DNA lesions.

Original publication

DOI

10.1016/j.cell.2007.08.043

Type

Journal article

Journal

Cell

Publication Date

21/09/2007

Volume

130

Pages

991 - 1004

Keywords

Animals, Apraxias, Ataxia Telangiectasia, Axons, DNA Breaks, Single-Stranded, DNA Repair, DNA Repair Enzymes, DNA-Binding Proteins, Genetic Predisposition to Disease, Genomic Instability, Humans, Models, Molecular, Mutation, Nerve Degeneration, Neurodegenerative Diseases, Neurons, Nuclear Proteins, Oculomotor Nerve Diseases, Phosphoric Diester Hydrolases, Protein Conformation, Protein Structure, Tertiary, Spinocerebellar Ataxias, Zinc Fingers