Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor

Polynucleotide Kinase-Phosphatase (PNKP) is a bifunctional enzyme that possesses both DNA 3′-phosphatase and DNA 5′-kinase activities, which are required for processing termini of single- and double-strand breaks generated by reactive oxygen species (ROS), ionizing radiation and topoisomerase I pois...

Descripción completa

Detalles Bibliográficos
Autores principales: Jiang, Bingcheng, Murray, Cameron, Cole, Bonnie L., Glover, J. N. Mark, Chan, Gordon K., Deschenes, Jean, Mani, Rajam S., Subedi, Sudip, Nerva, John D., Wang, Anthony C., Lockwood, Christina M., Mefford, Heather C., Leary, Sarah E. S., Ojemann, Jeffery G., Weinfeld, Michael, Ene, Chibawanye I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8967877/
https://www.ncbi.nlm.nih.gov/pubmed/35354845
http://dx.doi.org/10.1038/s41598-022-09097-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8967877/
https://www.ncbi.nlm.nih.gov/pubmed/35354845
http://dx.doi.org/10.1038/s41598-022-09097-w

Ejemplares similares