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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: halder s. 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.
Role of p97/VCP (Cdc48) in genome stability.
Vaz B, Halder S, Ramadan K. Vaz B, et al. Among authors: halder s. Front Genet. 2013 Apr 30;4:60. doi: 10.3389/fgene.2013.00060. eCollection 2013. Front Genet. 2013. PMID: 23641252 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: halder s. 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.
Targeting BRCA1 and BRCA2 Deficiencies with G-Quadruplex-Interacting Compounds.
Zimmer J, Tacconi EMC, Folio C, Badie S, Porru M, Klare K, Tumiati M, Markkanen E, Halder S, Ryan A, Jackson SP, Ramadan K, Kuznetsov SG, Biroccio A, Sale JE, Tarsounas M. Zimmer J, et al. Among authors: halder s. Mol Cell. 2016 Feb 4;61(3):449-460. doi: 10.1016/j.molcel.2015.12.004. Epub 2015 Dec 31. Mol Cell. 2016. PMID: 26748828 Free PMC article.
687 results