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Page 1
ClinVar data parsing.
Zhang X, Minikel EV, O'Donnell-Luria AH, MacArthur DG, Ware JS, Weisburd B. Zhang X, et al. Wellcome Open Res. 2017 May 23;2:33. doi: 10.12688/wellcomeopenres.11640.1. eCollection 2017. Wellcome Open Res. 2017. PMID: 28630944 Free PMC article.
Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease.
Vallabh SM, Minikel EV, Williams VJ, Carlyle BC, McManus AJ, Wennick CD, Bolling A, Trombetta BA, Urick D, Nobuhara CK, Gerber J, Duddy H, Lachmann I, Stehmann C, Collins SJ, Blennow K, Zetterberg H, Arnold SE. Vallabh SM, et al. BMC Med. 2020 Jun 18;18(1):140. doi: 10.1186/s12916-020-01608-8. BMC Med. 2020. PMID: 32552681 Free PMC article.
Novel quaternary structures of the human prion protein globular domain.
Bortot LO, Rangel VL, Pavlovici FA, El Omari K, Wagner A, Brandao-Neto J, Talon R, von Delft F, Reidenbach AG, Vallabh SM, Minikel EV, Schreiber S, Nonato MC. Bortot LO, et al. Biochimie. 2021 Dec;191:118-125. doi: 10.1016/j.biochi.2021.09.005. Epub 2021 Sep 10. Biochimie. 2021. PMID: 34517052 Free PMC article.
Antisense oligonucleotides extend survival of prion-infected mice.
Raymond GJ, Zhao HT, Race B, Raymond LD, Williams K, Swayze EE, Graffam S, Le J, Caron T, Stathopoulos J, O'Keefe R, Lubke LL, Reidenbach AG, Kraus A, Schreiber SL, Mazur C, Cabin DE, Carroll JB, Minikel EV, Kordasiewicz H, Caughey B, Vallabh SM. Raymond GJ, et al. JCI Insight. 2019 Jul 30;5(16):e131175. doi: 10.1172/jci.insight.131175. JCI Insight. 2019. PMID: 31361599 Free PMC article.
Multimodal small-molecule screening for human prion protein binders.
Reidenbach AG, Mesleh MF, Casalena D, Vallabh SM, Dahlin JL, Leed AJ, Chan AI, Usanov DL, Yehl JB, Lemke CT, Campbell AJ, Shah RN, Shrestha OK, Sacher JR, Rangel VL, Moroco JA, Sathappa M, Nonato MC, Nguyen KT, Wright SK, Liu DR, Wagner FF, Kaushik VK, Auld DS, Schreiber SL, Minikel EV. Reidenbach AG, et al. J Biol Chem. 2020 Sep 25;295(39):13516-13531. doi: 10.1074/jbc.RA120.014905. Epub 2020 Jul 28. J Biol Chem. 2020. PMID: 32723867 Free PMC article.
Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints.
Minikel EV, Zhao HT, Le J, O'Moore J, Pitstick R, Graffam S, Carlson GA, Kavanaugh MP, Kriz J, Kim JB, Ma J, Wille H, Aiken J, McKenzie D, Doh-Ura K, Beck M, O'Keefe R, Stathopoulos J, Caron T, Schreiber SL, Carroll JB, Kordasiewicz HB, Cabin DE, Vallabh SM. Minikel EV, et al. Nucleic Acids Res. 2020 Nov 4;48(19):10615-10631. doi: 10.1093/nar/gkaa616. Nucleic Acids Res. 2020. PMID: 32776089 Free PMC article.
Evaluating drug targets through human loss-of-function genetic variation.
Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alföldi J, Trembath RC, van Heel DA, Daly MJ; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Schreiber SL, MacArthur DG. Minikel EV, et al. Nature. 2020 May;581(7809):459-464. doi: 10.1038/s41586-020-2267-z. Epub 2020 May 27. Nature. 2020. PMID: 32461653 Free PMC article.
Domain-specific Quantification of Prion Protein in Cerebrospinal Fluid by Targeted Mass Spectrometry.
Minikel EV, Kuhn E, Cocco AR, Vallabh SM, Hartigan CR, Reidenbach AG, Safar JG, Raymond GJ, McCarthy MD, O'Keefe R, Llorens F, Zerr I, Capellari S, Parchi P, Schreiber SL, Carr SA. Minikel EV, et al. Mol Cell Proteomics. 2019 Dec;18(12):2388-2400. doi: 10.1074/mcp.RA119.001702. Epub 2019 Sep 26. Mol Cell Proteomics. 2019. PMID: 31558565 Free PMC article.
Age at onset in genetic prion disease and the design of preventive clinical trials.
Minikel EV, Vallabh SM, Orseth MC, Brandel JP, Haïk S, Laplanche JL, Zerr I, Parchi P, Capellari S, Safar J, Kenny J, Fong JC, Takada LT, Ponto C, Hermann P, Knipper T, Stehmann C, Kitamoto T, Ae R, Hamaguchi T, Sanjo N, Tsukamoto T, Mizusawa H, Collins SJ, Chiesa R, Roiter I, de Pedro-Cuesta J, Calero M, Geschwind MD, Yamada M, Nakamura Y, Mead S. Minikel EV, et al. Neurology. 2019 Jul 9;93(2):e125-e134. doi: 10.1212/WNL.0000000000007745. Epub 2019 Jun 6. Neurology. 2019. PMID: 31171647 Free PMC article.
12 results