Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair

Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide kinase/phosphatase (PNKP), a DNA strand break repair protein with DNA 5′-kinase and DNA 3′-phosphatase activity. To investigate the molecular basis of this...

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Detalles Bibliográficos
Autores principales: Reynolds, John J., Walker, Alexandra K., Gilmore, Edward C., Walsh, Christopher A., Caldecott, Keith W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Genome Integrity, Repair and Replication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413127/
https://www.ncbi.nlm.nih.gov/pubmed/22508754
http://dx.doi.org/10.1093/nar/gks318

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