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Article

Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease.

Mechanisms of ageing and development - 1 Jan 2017

Dumitrache Lavinia C, McKinnon Peter J

Abstract excerpt

A variety of human neurologic diseases are caused by inherited defects in DNA repair. In many cases, these syndromes almost exclusively impact the nervous system, underscoring the critical requirement for genome stability in this tissue. A striking example of this is defective enzymatic activity of polynucleotide kinase-phosphatase (PNKP), leading to microcephaly or neurodegeneration. Notably, the broad neural...

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Identifiers

PMID: 27125728
DOI: 10.1016/j.mad.2016.04.009
PMCID: PMC5161711

Genes

PNKP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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