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Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schäfer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrándiz C, Nöthen MM, Fischer U, Betz RC. Pasternack SM, et al. Among authors: paknia e. Am J Hum Genet. 2013 Jan 10;92(1):81-7. doi: 10.1016/j.ajhg.2012.10.022. Epub 2012 Dec 13. Am J Hum Genet. 2013. PMID: 23246290 Free PMC article.
The role of RNP biogenesis in spinal muscular atrophy.
Chari A, Paknia E, Fischer U. Chari A, et al. Among authors: paknia e. Curr Opin Cell Biol. 2009 Jun;21(3):387-93. doi: 10.1016/j.ceb.2009.02.004. Epub 2009 Mar 13. Curr Opin Cell Biol. 2009. PMID: 19286363 Review.
ProteoPlex: stability optimization of macromolecular complexes by sparse-matrix screening of chemical space.
Chari A, Haselbach D, Kirves JM, Ohmer J, Paknia E, Fischer N, Ganichkin O, Möller V, Frye JJ, Petzold G, Jarvis M, Tietzel M, Grimm C, Peters JM, Schulman BA, Tittmann K, Markl J, Fischer U, Stark H. Chari A, et al. Among authors: paknia e. Nat Methods. 2015 Sep;12(9):859-65. doi: 10.1038/nmeth.3493. Epub 2015 Aug 3. Nat Methods. 2015. PMID: 26237227 Free PMC article.
Multiple redox switches of the SARS-CoV-2 main protease in vitro provide opportunities for drug design.
Funk LM, Poschmann G, Rabe von Pappenheim F, Chari A, Stegmann KM, Dickmanns A, Wensien M, Eulig N, Paknia E, Heyne G, Penka E, Pearson AR, Berndt C, Fritz T, Bazzi S, Uranga J, Mata RA, Dobbelstein M, Hilgenfeld R, Curth U, Tittmann K. Funk LM, et al. Among authors: paknia e. Nat Commun. 2024 Jan 9;15(1):411. doi: 10.1038/s41467-023-44621-0. Nat Commun. 2024. PMID: 38195625 Free PMC article.