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Page 1
ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.
Merico D, Spickett C, O'Hara M, Kakaradov B, Deshwar AG, Fradkin P, Gandhi S, Gao J, Grant S, Kron K, Schmitges FW, Shalev Z, Sun M, Verby M, Cahill M, Dowling JJ, Fransson J, Wienholds E, Frey BJ. Merico D, et al. Among authors: schmitges fw. NPJ Genom Med. 2020 Apr 8;5:16. doi: 10.1038/s41525-020-0123-6. eCollection 2020. NPJ Genom Med. 2020. PMID: 32284880 Free PMC article.
Structural and Functional Characterization of Ubiquitin Variant Inhibitors of USP15.
Teyra J, Singer AU, Schmitges FW, Jaynes P, Kit Leng Lui S, Polyak MJ, Fodil N, Krieger JR, Tong J, Schwerdtfeger C, Brasher BB, Ceccarelli DFJ, Moffat J, Sicheri F, Moran MF, Gros P, Eichhorn PJA, Lenter M, Boehmelt G, Sidhu SS. Teyra J, et al. Among authors: schmitges fw. Structure. 2019 Apr 2;27(4):590-605.e5. doi: 10.1016/j.str.2019.01.002. Epub 2019 Jan 31. Structure. 2019. PMID: 30713027 Free article.
Multiparameter functional diversity of human C2H2 zinc finger proteins.
Schmitges FW, Radovani E, Najafabadi HS, Barazandeh M, Campitelli LF, Yin Y, Jolma A, Zhong G, Guo H, Kanagalingam T, Dai WF, Taipale J, Emili A, Greenblatt JF, Hughes TR. Schmitges FW, et al. Genome Res. 2016 Dec;26(12):1742-1752. doi: 10.1101/gr.209643.116. Epub 2016 Nov 16. Genome Res. 2016. PMID: 27852650 Free PMC article.
C2H2 zinc finger proteins greatly expand the human regulatory lexicon.
Najafabadi HS, Mnaimneh S, Schmitges FW, Garton M, Lam KN, Yang A, Albu M, Weirauch MT, Radovani E, Kim PM, Greenblatt J, Frey BJ, Hughes TR. Najafabadi HS, et al. Among authors: schmitges fw. Nat Biotechnol. 2015 May;33(5):555-62. doi: 10.1038/nbt.3128. Epub 2015 Feb 18. Nat Biotechnol. 2015. PMID: 25690854
Histone methylation by PRC2 is inhibited by active chromatin marks.
Schmitges FW, Prusty AB, Faty M, Stützer A, Lingaraju GM, Aiwazian J, Sack R, Hess D, Li L, Zhou S, Bunker RD, Wirth U, Bouwmeester T, Bauer A, Ly-Hartig N, Zhao K, Chan H, Gu J, Gut H, Fischle W, Müller J, Thomä NH. Schmitges FW, et al. Mol Cell. 2011 May 6;42(3):330-41. doi: 10.1016/j.molcel.2011.03.025. Mol Cell. 2011. PMID: 21549310 Free article.