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XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
Hoch NC, Hanzlikova H, Rulten SL, Tétreault M, Komulainen E, Ju L, Hornyak P, Zeng Z, Gittens W, Rey SA, Staras K, Mancini GM, McKinnon PJ, Wang ZQ, Wagner JD; Care4Rare Canada Consortium; Yoon G, Caldecott KW. Hoch NC, et al. Among authors: ju l. Nature. 2017 Jan 5;541(7635):87-91. doi: 10.1038/nature20790. Epub 2016 Dec 21. Nature. 2017. PMID: 28002403 Free PMC article.
TDP2 promotes repair of topoisomerase I-mediated DNA damage in the absence of TDP1.
Zeng Z, Sharma A, Ju L, Murai J, Umans L, Vermeire L, Pommier Y, Takeda S, Huylebroeck D, Caldecott KW, El-Khamisy SF. Zeng Z, et al. Among authors: ju l. Nucleic Acids Res. 2012 Sep 1;40(17):8371-80. doi: 10.1093/nar/gks622. Epub 2012 Jun 26. Nucleic Acids Res. 2012. PMID: 22740648 Free PMC article.
TDP2-dependent non-homologous end-joining protects against topoisomerase II-induced DNA breaks and genome instability in cells and in vivo.
Gómez-Herreros F, Romero-Granados R, Zeng Z, Alvarez-Quilón A, Quintero C, Ju L, Umans L, Vermeire L, Huylebroeck D, Caldecott KW, Cortés-Ledesma F. Gómez-Herreros F, et al. Among authors: ju l. PLoS Genet. 2013;9(3):e1003226. doi: 10.1371/journal.pgen.1003226. Epub 2013 Mar 7. PLoS Genet. 2013. PMID: 23505375 Free PMC article.
SMC6 is an essential gene in mice, but a hypomorphic mutant in the ATPase domain has a mild phenotype with a range of subtle abnormalities.
Ju L, Wing J, Taylor E, Brandt R, Slijepcevic P, Horsch M, Rathkolb B, Rácz I, Becker L, Hans W, Adler T, Beckers J, Rozman J, Klingenspor M, Wolf E, Zimmer A, Klopstock T, Busch DH, Gailus-Durner V, Fuchs H, de Angelis MH, van der Horst G, Lehmann AR. Ju L, et al. DNA Repair (Amst). 2013 May 1;12(5):356-66. doi: 10.1016/j.dnarep.2013.02.006. Epub 2013 Mar 18. DNA Repair (Amst). 2013. PMID: 23518413
957 results