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Article

Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.

Nucleic acids research - 9 Jul 2020

Kalasova Ilona, Hailstone Richard, Bublitz Janin, Bogantes Jovel, Hofmann Winfried, Leal Alejandro, Hanzlikova Hana, Caldecott Keith W

Abstract excerpt

Hereditary mutations in polynucleotide kinase-phosphatase (PNKP) result in a spectrum of neurological pathologies ranging from neurodevelopmental dysfunction in microcephaly with early onset seizures (MCSZ) to neurodegeneration in ataxia oculomotor apraxia-4 (AOA4) and Charcot-Marie-Tooth disease (CMT2B2). Consistent with this, PNKP is implicated in the repair of both DNA single-strand breaks (SSBs) and DNA...

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Identifiers

PMID: 32504494
DOI: 10.1093/nar/gkaa489
PMCID: PMC7337934

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