Polynucleotide Kinase-Phosphatase (PNKP) Mutations and Neurologic Disease.

Mechanisms of Ageing and Development（2017）

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摘要

•A variety of human neurologic diseases are caused by inherited defects in DNA repair.•Mutations in Polynucleotide kinase phosphatase can result in different neurologic syndromes.•PNKP defects can lead to microcephaly with seizures (MCSZ) or ataxia with oculomotor apraxia 4 (AOA4).•Factors other than specific gene mutations influence the neural phenotyeps resulting from repair deficiency.

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关键词

Neurodegeneration,Microcephaly,DNA repair,DNA damage signaling,Polynucleotide kinase phosphatase,Neurologic disease,Single strand break repair,Base excision repair

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