Aprataxin is a protein that in humans is encoded by the APTX gene. This gene encodes a member of the histidine triad (HIT) superfamily, some of which...
12 KB (1,511 words) - 18:13, 24 January 2024
having A–T. It is caused by mutation in the gene coding for the protein aprataxin. Affected individuals differ from those with A–T by the early appearance...
80 KB (10,530 words) - 11:14, 15 July 2024
and hypercholesterolemia. Mutations in the gene APTX, which encodes for aprataxin, have been identified to be responsible for AOA1. Elevated creatine kinase...
14 KB (1,509 words) - 16:18, 11 February 2024
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, Yi-Ping;...
28 KB (3,683 words) - 04:20, 22 August 2024
PMID 15136035. Gueven N, Becherel OJ, Kijas AW, et al. (May 2004). "Aprataxin, a novel protein that protects against genotoxic stress". Human Molecular...
124 KB (13,220 words) - 11:01, 30 August 2024
intermediate incapable of being fixed without the aid of a phosphodiesterase. Aprataxin (a phosphodiesterase) has been shown to act on aborted DNA intermediates...
23 KB (2,878 words) - 08:09, 5 August 2024
hypersensitivity to oxidative stress. The import of DNA repair proteins aprataxin and DNA ligase I is selectively decreased, and this may increase the vulnerability...
18 KB (2,145 words) - 04:19, 29 November 2023
oxidative stress. Mutant ALADIN also causes decreased nuclear import of aprataxin, a repair protein for DNA single-strand breaks, and DNA ligase I. These...
14 KB (1,595 words) - 06:19, 1 April 2024
excision repair), aprataxin (active in single-strand DNA repair and non-homologous end joining) and a third protein designated aprataxin- and PNKP-like factor...
23 KB (2,856 words) - 20:57, 6 March 2024
it is believed to bind non-covalently, while in other cases (such as Aprataxin) it appears to bind both non-covalently through a zinc finger motif, and...
13 KB (1,366 words) - 02:33, 25 September 2024