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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: oehler j. 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.
SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication.
Halder S, Torrecilla I, Burkhalter MD, Popović M, Fielden J, Vaz B, Oehler J, Pilger D, Lessel D, Wiseman K, Singh AN, Vendrell I, Fischer R, Philipp M, Ramadan K. Halder S, et al. Among authors: oehler j. Nat Commun. 2019 Jul 17;10(1):3142. doi: 10.1038/s41467-019-11095-y. Nat Commun. 2019. PMID: 31316063 Free PMC article.
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: oehler j. 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.
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: oehler j. 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.
112 results