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Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JC, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Högel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmüller J, Nürnberg G, Nürnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C. Lessel D, et al. Among authors: ramadan k. Nat Genet. 2014 Nov;46(11):1239-44. doi: 10.1038/ng.3103. Epub 2014 Sep 28. Nat Genet. 2014. PMID: 25261934 Free PMC article.
Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair.
Vaz B, Popovic M, Newman JA, Fielden J, Aitkenhead H, Halder S, Singh AN, Vendrell I, Fischer R, Torrecilla I, Drobnitzky N, Freire R, Amor DJ, Lockhart PJ, Kessler BM, McKenna GW, Gileadi O, Ramadan K. Vaz B, et al. Among authors: ramadan k. Mol Cell. 2016 Nov 17;64(4):704-719. doi: 10.1016/j.molcel.2016.09.032. Epub 2016 Oct 27. Mol Cell. 2016. PMID: 27871366 Free PMC article.
DNA-Protein Crosslink Proteolysis Repair.
Vaz B, Popovic M, Ramadan K. Vaz B, et al. Among authors: ramadan k. Trends Biochem Sci. 2017 Jun;42(6):483-495. doi: 10.1016/j.tibs.2017.03.005. Epub 2017 Apr 14. Trends Biochem Sci. 2017. PMID: 28416269 Review.
The Ubiquitin E3/E4 Ligase UBE4A Adjusts Protein Ubiquitylation and Accumulation at Sites of DNA Damage, Facilitating Double-Strand Break Repair.
Baranes-Bachar K, Levy-Barda A, Oehler J, Reid DA, Soria-Bretones I, Voss TC, Chung D, Park Y, Liu C, Yoon JB, Li W, Dellaire G, Misteli T, Huertas P, Rothenberg E, Ramadan K, Ziv Y, Shiloh Y. Baranes-Bachar K, et al. Among authors: ramadan k. Mol Cell. 2018 Mar 1;69(5):866-878.e7. doi: 10.1016/j.molcel.2018.02.002. Mol Cell. 2018. PMID: 29499138 Free PMC article.
154 results