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

Autor: Jiang, Bingcheng, Murray, Cameron, Cole, Bonnie L, Glover, JN 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 ES, Ojemann, Jeffery G, Weinfeld, Michael, Ene, Chibawanye I

Publikováno v: Scientific reports, vol 12, iss 1

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::5fa0d5e88d4a3fdb7b7df4b5019d1ba4
https://escholarship.org/uc/item/2759h9tq

Structural and functional characterization of the PNKP-XRCC4-LigIV DNA repair complex

Autor: Daniel Aceytuno, R, Piett, CG, Havali-Shahriari, Z, Edwards, RA, Rey, M, Ye, R, Javed, F, Fang, S, Mani, R, Weinfeld, M, Hammel, M, Tainer, JA, Schriemer, DC, Lees-Miller, SP, Mark Glover, JN

Publikováno v: Daniel Aceytuno, R; Piett, CG; Havali-Shahriari, Z; Edwards, RA; Rey, M; Ye, R; et al.(2017). Structural and functional characterization of the PNKP-XRCC4-LigIV DNA repair complex. Nucleic Acids Research, 45(10), 6238-6251. doi: 10.1093/nar/gkx275. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/8vv1h2hs

© The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research. Non-homologous end joining (NHEJ) repairs DNA double strand breaks in non-cycling eukaryotic cells. NHEJ relies on polynucleotide kinase/phosphatase (PNK

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::11460a66b20de394958b302d981018ab
http://www.escholarship.org/uc/item/8vv1h2hs

BRCT domains: easy as one, two, three

Autor: Glover Jn, Leung Cc

Publikováno v: Cell cycle (Georgetown, Tex.). 10(15)

BRCA1 C-terminal (BRCT) domains are integral signaling modules in the DNA damage response (DDR). Aside from their established roles as phospho-peptide binding modules, BRCT domains have been implicated in phosphorylation-independent protein interacti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef8a6245c2f872a0f4e4e444521772a
https://pubmed.ncbi.nlm.nih.gov/21734457

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Molecular Basis for K63-Linked Ubiquitination Processes in Double-Strand DNA Break Repair: A Focus on Kinetics and Dynamics.

Autor: Lee BL; Department of Biochemistry, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta T6G 2H7, Canada., Singh A; Department of Biochemistry, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta T6G 2H7, Canada., Mark Glover JN; Department of Biochemistry, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta T6G 2H7, Canada., Hendzel MJ; Department of Oncology, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta T6G 2H7, Canada; Department of Cell Biology, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta T6G 2H7, Canada., Spyracopoulos L; Department of Biochemistry, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta T6G 2H7, Canada. Electronic address: leo.spyracopoulos@ualberta.ca.

Publikováno v: Journal of molecular biology [J Mol Biol] 2017 Nov 10; Vol. 429 (22), pp. 3409-3429. Date of Electronic Publication: 2017 Jun 03.