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BRAT1 links Integrator and defective RNA processing with neurodegeneration.
Cihlarova Z, Kubovciak J, Sobol M, Krejcikova K, Sachova J, Kolar M, Stanek D, Barinka C, Yoon G, Caldecott KW, Hanzlikova H. Cihlarova Z, et al. Among authors: caldecott kw. Nat Commun. 2022 Aug 26;13(1):5026. doi: 10.1038/s41467-022-32763-6. Nat Commun. 2022. PMID: 36028512 Free PMC article.
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: caldecott kw. Nature. 2017 Jan 5;541(7635):87-91. doi: 10.1038/nature20790. Epub 2016 Dec 21. Nature. 2017. PMID: 28002403 Free PMC article.
Perspectives on PARPs in S Phase.
Hanzlikova H, Caldecott KW. Hanzlikova H, et al. Among authors: caldecott kw. Trends Genet. 2019 Jun;35(6):412-422. doi: 10.1016/j.tig.2019.03.008. Epub 2019 Apr 26. Trends Genet. 2019. PMID: 31036342 Review.
136 results