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Article

Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans.

The Journal of biological chemistry - 1 May 2023

Islam Azharul, Chakraborty Anirban, Gambardella Stefano, Campopiano Rosa, Sarker Altaf H, Boldogh Istvan, Hazra Tapas

Abstract excerpt

Polynucleotide kinase 3'-phosphatase (PNKP), an essential DNA end-processing enzyme in mammals with 3'-phosphatase and 5'-kinase activities, plays a pivotal role in multiple DNA repair pathways. Its functional deficiency has been etiologically linked to various neurological disorders. Recent reports have shown that mutation at a conserved glutamine (Gln) in PNKP leads to late-onset ataxia with oculomotor apraxia...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37061005
DOI: 10.1016/j.jbc.2023.104714
PMCID: PMC10197107

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