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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: freire r. 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.
USP37 deubiquitinates Cdt1 and contributes to regulate DNA replication.
Hernández-Pérez S, Cabrera E, Amoedo H, Rodríguez-Acebes S, Koundrioukoff S, Debatisse M, Méndez J, Freire R. Hernández-Pérez S, et al. Among authors: freire r. Mol Oncol. 2016 Oct;10(8):1196-206. doi: 10.1016/j.molonc.2016.05.008. Epub 2016 Jun 3. Mol Oncol. 2016. PMID: 27296872 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: freire r. 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.
Claspin - checkpoint adaptor and DNA replication factor.
Smits VAJ, Cabrera E, Freire R, Gillespie DA. Smits VAJ, et al. Among authors: freire r. FEBS J. 2019 Feb;286(3):441-455. doi: 10.1111/febs.14594. Epub 2018 Jun 29. FEBS J. 2019. PMID: 29931808 Free article. Review.
Control of DNA Replication Initiation by Ubiquitin.
Hernández-Carralero E, Cabrera E, Alonso-de Vega I, Hernández-Pérez S, Smits VAJ, Freire R. Hernández-Carralero E, et al. Among authors: freire r. Cells. 2018 Sep 20;7(10):146. doi: 10.3390/cells7100146. Cells. 2018. PMID: 30241373 Free PMC article. Review.
The p97-Ataxin 3 complex regulates homeostasis of the DNA damage response E3 ubiquitin ligase RNF8.
Singh AN, Oehler J, Torrecilla I, Kilgas S, Li S, Vaz B, Guérillon C, Fielden J, Hernandez-Carralero E, Cabrera E, Tullis ID, Meerang M, Barber PR, Freire R, Parsons J, Vojnovic B, Kiltie AE, Mailand N, Ramadan K. Singh AN, et al. Among authors: freire r. EMBO J. 2019 Oct 4;38(21):e102361. doi: 10.15252/embj.2019102361. Epub 2019 Oct 15. EMBO J. 2019. PMID: 31613024 Free PMC article.
618 results