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Page 1
In vivo base editing extends lifespan of a humanized mouse model of prion disease.
An M, Davis JR, Levy JM, Serack FE, Harvey JW, Brauer PP, Pirtle CP, Berríos KN, Newby GA, Yeh WH, Kamath N, Mortberg M, Lian Y, Howard M, DeSouza-Lenz K, Guzman K, Thai A, Graffam S, Coffey AA, Frei J, Pierce SE, Safar JG, Deverman BE, Minikel EV, Vallabh SM, Liu DR. An M, et al. Among authors: minikel ev. Nat Med. 2025 Jan 14. doi: 10.1038/s41591-024-03466-w. Online ahead of print. Nat Med. 2025. PMID: 39810005
Search for a genetic cause of variably protease-sensitive prionopathy.
Lian Y, Kotobelli K, Hall S, Talkowski ME, O'Donnell-Luria A, Vallabh SM, Appleby BS, Minikel EV. Lian Y, et al. Among authors: minikel ev. medRxiv [Preprint]. 2024 Dec 14:2024.12.12.24318867. doi: 10.1101/2024.12.12.24318867. medRxiv. 2024. PMID: 39711705 Free PMC article. Preprint.
PrP turnover in vivo and the time to effect of prion disease therapeutics.
Corridon TL, O'Moore J, Lian Y, Laversenne V, Noble B, Kamath NG, Serack FE, Shaikh AB, Erickson B, Braun C, Lenz K, Howard M, Chan N, Reidenbach AG, Cabin DE, Vallabh SM, Grindeland A, Oberbeck N, Zhao HT, Minikel EV. Corridon TL, et al. Among authors: minikel ev. bioRxiv [Preprint]. 2024 Nov 14:2024.11.12.623215. doi: 10.1101/2024.11.12.623215. bioRxiv. 2024. PMID: 39605733 Free PMC article. Preprint.
Brainwide silencing of prion protein by AAV-mediated delivery of an engineered compact epigenetic editor.
Neumann EN, Bertozzi TM, Wu E, Serack F, Harvey JW, Brauer PP, Pirtle CP, Coffey A, Howard M, Kamath N, Lenz K, Guzman K, Raymond MH, Khalil AS, Deverman BE, Minikel EV, Vallabh SM, Weissman JS. Neumann EN, et al. Among authors: minikel ev. Science. 2024 Jun 28;384(6703):ado7082. doi: 10.1126/science.ado7082. Epub 2024 Jun 28. Science. 2024. PMID: 38935715
Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease Conversion.
Vallabh SM, Mortberg MA, Allen SW, Kupferschmid AC, Kivisakk P, Hammerschlag BL, Bolling A, Trombetta BA, Devitte-McKee K, Ford AM, Sather LE, Duffy G, Rivera A, Gerber J, McManus AJ, Minikel EV, Arnold SE. Vallabh SM, et al. Among authors: minikel ev. Neurology. 2024 Jul 23;103(2):e209506. doi: 10.1212/WNL.0000000000209506. Epub 2024 Jun 19. Neurology. 2024. PMID: 38896810 Free PMC article.
Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker.
Gentile JE, Heiss C, Corridon TL, Mortberg MA, Fruhwürth S, Guzman K, Grötschel L, Chan K, Herring NC, Janicki T, Nhass R, Sarathy JM, Erickson B, Kunz R, Erickson A, Braun C, Henry KT, Bry L, Arnold SE, Minikel EV, Zetterberg H, Vallabh SM. Gentile JE, et al. Among authors: minikel ev. medRxiv [Preprint]. 2024 May 2:2024.05.01.24306384. doi: 10.1101/2024.05.01.24306384. medRxiv. 2024. PMID: 38746398 Free PMC article. Preprint.
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Nature. 2024 Feb;626(7997):E1. doi: 10.1038/s41586-024-07050-7. Nature. 2024. PMID: 38225470 No abstract available.
Biomarker changes preceding symptom onset in genetic prion disease.
Vallabh SM, Mortberg MA, Allen SW, Kupferschmid AC, Kivisäkk P, Hammerschlag BL, Bolling A, Trombetta BA, Devitte-McKee K, Ford AM, Sather L, Duffy G, Rivera A, Gerber J, McManus AJ, Minikel EV, Arnold SE. Vallabh SM, et al. Among authors: minikel ev. medRxiv [Preprint]. 2023 Dec 18:2023.12.18.23300042. doi: 10.1101/2023.12.18.23300042. medRxiv. 2023. Update in: Neurology. 2024 Jul 23;103(2):e209506. doi: 10.1212/WNL.0000000000209506 PMID: 38196583 Free PMC article. Updated. Preprint.
58 results