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De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Sleyp Y, Valenzuela I, Accogli A, Ballon K, Ben-Zeev B, Berkovic SF, Broly M, Callaerts P, Caylor RC, Charles P, Chatron N, Cohen L, Coppola A, Cordeiro D, Cuccurullo C, Cuscó I, Janette diMonda, Duran-Romaña R, Ekhilevitch N, Fernández-Alvarez P, Gordon CT, Isidor B, Keren B, Lesca G, Maljaars J, Mercimek-Andrews S, Morrow MM, Muir AM; University of Washington Center for Mendelian Genomics; Rousseau F, Salpietro V, Scheffer IE, Schnur RE, Schymkowitz J, Souche E, Steyaert J, Stolerman ES, Vengoechea J, Ville D, Washington C, Weiss K, Zaid R, Sadleir LG, Mefford HC, Peeters H. Sleyp Y, et al. Among authors: duran romana r. Genet Med. 2022 Dec;24(12):2464-2474. doi: 10.1016/j.gim.2022.08.020. Epub 2022 Oct 11. Genet Med. 2022. PMID: 36214804 Free article.
Exploiting the intrinsic misfolding propensity of the KRAS oncoprotein.
Janssen K, Claes F, Van de Velde D, Wehbi VL, Houben B, Lampi Y, Nys M, Khodaparast L, Khodaparast L, Louros N, van der Kant R, Verniers J, Garcia T, Ramakers M, Konstantoulea K, Maragkou K, Duran-Romaña R, Musteanu M, Barbacid M, Scorneaux B, Beirnaert E, Schymkowitz J, Rousseau F. Janssen K, et al. Among authors: duran romana r. Proc Natl Acad Sci U S A. 2023 Feb 28;120(9):e2214921120. doi: 10.1073/pnas.2214921120. Epub 2023 Feb 22. Proc Natl Acad Sci U S A. 2023. PMID: 36812200 Free PMC article.
Exploiting the aggregation propensity of beta-lactamases to design inhibitors that induce enzyme misfolding.
Khodaparast L, Khodaparast L, Wu G, Michiels E, Gallardo R, Houben B, Garcia T, De Vleeschouwer M, Ramakers M, Wilkinson H, Duran-Romaña R, Van Eldere J, Rousseau F, Schymkowitz J. Khodaparast L, et al. Among authors: duran romana r. Nat Commun. 2023 Sep 9;14(1):5571. doi: 10.1038/s41467-023-41191-z. Nat Commun. 2023. PMID: 37689716 Free PMC article.
Identification of genomic enhancers through spatial integration of single-cell transcriptomics and epigenomics.
Bravo González-Blas C, Quan XJ, Duran-Romaña R, Taskiran II, Koldere D, Davie K, Christiaens V, Makhzami S, Hulselmans G, de Waegeneer M, Mauduit D, Poovathingal S, Aibar S, Aerts S. Bravo González-Blas C, et al. Among authors: duran romana r. Mol Syst Biol. 2020 May;16(5):e9438. doi: 10.15252/msb.20209438. Mol Syst Biol. 2020. PMID: 32431014 Free PMC article.