polynucleotide phosphatase/kinase is an enzyme that in humans is encoded by the PNKP gene. A detailed structural study of the crystallized mouse protein examined...
15 KB (1,881 words) - 20:06, 3 December 2023
of polynucleotide kinase phosphatase (PNKP) is necessary for the recruitment of PNKP to damage sites in DNA. PNKP is active in the repair of DNA damage...
3 KB (370 words) - 01:07, 18 June 2024
proteins, including pol β, DNA ligase III, XRCC1, and the kinase domain of PNKP. The recent discovery that the poly-A polymerase Trf4 possesses 5' dRP lyase...
29 KB (3,493 words) - 00:14, 22 June 2024
M; Caldecott, KW; Barkovich, AJ; Walsh, CA (March 2010). "Mutations in PNKP cause microcephaly, seizures and defects in DNA repair". Nature Genetics...
45 KB (4,206 words) - 13:01, 1 July 2024
mutations in ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, KCNQ2, ARHGEF9, PCDH19, PNKP, SCN2A, PLCB1, SCN8A, ST3GAL3, TBC1D24, BRAT1 and likely others. Less often...
15 KB (1,472 words) - 11:42, 3 May 2024
genes essential for neuronal migration and cortex organisation (TUBG1, FLNA, PNKP, WDR62, PSMD3, HDAC6) and metabolism (PCK2, PFKL, IDH2, ACY1, and ADA). Aberrant...
25 KB (2,954 words) - 11:16, 11 May 2024
DNA Ligase IV XRCC4 XLF Artemis DNA polymerase mu DNA polymerase lambda PNKP Aprataxin APLF BRCA1 BRCA2 CYREN Chou, Shih‐Jie; Yang, Peng; Ban, Qian; Yang...
28 KB (3,679 words) - 19:28, 3 December 2023
HGNC:13415 Q6P2M8 12414 PNISR HGNC:21222 Q8TF01 12415 PNKD HGNC:9153 Q8N490 12416 PNKP HGNC:9154 Q96T60 12417 PNLDC1 HGNC:21185 Q8NA58 12418 PNLIP HGNC:9155 P16233...
282 KB (17 words) - 07:55, 20 June 2024
still to be determined. DNA polymerase beta has been shown to interact with PNKP and XRCC1. POLA1 POLA2 GRCm38: Ensembl release 89: ENSMUSG00000031536 – Ensembl...
19 KB (2,214 words) - 09:45, 23 December 2023
Topcu M, Caldecott KW, Barkovich AJ, Walsh CA (March 2010). "Mutations in PNKP cause microcephaly, seizures and defects in DNA repair". Nature Genetics...
31 KB (3,833 words) - 18:09, 27 June 2024