Elezgarai, Saioa R.Fernández Borges, NataliaEraña, HasierSevillano Mantas, Alejandro ManuelCharco, Jorge M.Harrathi, ChafikSaá, PaulaGil, DavidKong, QingzhongRodríguez Requena, JesúsAndréoletti, OlivierCastilla, Joaquín2020-06-092020-06-092017Elezgarai, S.R., Fernández-Borges, N., Eraña, H. et al. Generation of a new infectious recombinant prion: a model to understand Gerstmann–Sträussler–Scheinker syndrome. Sci Rep 7, 9584 (2017). https://doi.org/10.1038/s41598-017-09489-3http://hdl.handle.net/10347/22917Human transmissible spongiform encephalopathies (TSEs) or prion diseases are a group of fatal neurodegenerative disorders that include Kuru, Creutzfeldt-Jakob disease, Gerstmann-SträusslerScheinker syndrome (GSS), and fatal familial insomnia. GSS is a genetically determined TSE caused by a range of mutations within the prion protein (PrP) gene. Several animal models, based on the expression of PrPs carrying mutations analogous to human heritable prion diseases, support that mutations might predispose PrP to spontaneously misfold. An adapted Protein Misfolding Cyclic Amplification methodology based on the use of human recombinant PrP (recPMCA) generated different self-propagating misfolded proteins spontaneously. These were characterized biochemically and structurally, and the one partially sharing some of the GSS PrPSc molecular features was inoculated into different animal models showing high infectivity. This constitutes an infectious recombinant prion which could be an invaluable model for understanding GSS. Moreover, this study proves the possibility to generate recombinant versions of other human prion diseases that could provide a further understanding on the molecular features of these devastating disorders.eng© The Author(s) 2017. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/http://creativecommons.org/licenses/by/4.0/journal article10.1038/s41598-017-09489-32045-2322open access