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

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...

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Detalles Bibliográficos
Autores principales: Islam, Azharul, Chakraborty, Anirban, Gambardella, Stefano, Campopiano, Rosa, Sarker, Altaf H., Boldogh, Istvan, Hazra, Tapas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197107/
https://www.ncbi.nlm.nih.gov/pubmed/37061005
http://dx.doi.org/10.1016/j.jbc.2023.104714

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