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In vivo CRISPR-Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington's disease.
Mouro Pinto R, Murtha R, Azevedo A, Douglas C, Kovalenko M, Ulloa J, Crescenti S, Burch Z, Oliver E, Kesavan M, Shibata S, Vitalo A, Mota-Silva E, Riggs MJ, Correia K, Elezi E, Demelo B, Carroll JB, Gillis T, Gusella JF, MacDonald ME, Wheeler VC. Mouro Pinto R, et al. Among authors: elezi e. Nat Genet. 2025 Feb;57(2):314-322. doi: 10.1038/s41588-024-02054-5. Epub 2025 Jan 22. Nat Genet. 2025. PMID: 39843658 Free PMC article.
Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects.
Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium; Lee JM, McLean ZL, Correia K, Shin JW, Lee S, Jang JH, Lee Y, Kim KH, Choi DE, Long JD, Lucente D, Seong IS, Pinto RM, Giordano JV, Mysore JS, Siciliano J, Elezi E, Ruliera J, Gillis T, Wheeler VC, MacDonald ME, Gusella JF, Gatseva A, Ciosi M, Lomeikaite V, Loay H, Monckton DG, Wills C, Massey TH, Jones L, Holmans P, Kwak S, Sampaio C, Orth M, Bernhard Landwehrmeyer G, Paulsen JS, Ray Dorsey E, Myers RH. Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium, et al. Among authors: elezi e. bioRxiv [Preprint]. 2024 Jun 18:2024.06.10.597797. doi: 10.1101/2024.06.10.597797. bioRxiv. 2024. Update in: Nat Genet. 2025 Jun;57(6):1426-1436. doi: 10.1038/s41588-025-02191-5. PMID: 38948755 Free PMC article. Updated. Preprint.
Identification of genetic modifiers of Huntington's disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing.
Mouro Pinto R, Murtha R, Azevedo A, Douglas C, Kovalenko M, Ulloa J, Crescenti S, Burch Z, Oliver E, Vitalo A, Mota-Silva E, Riggs MJ, Correia K, Elezi E, Demelo B, Carroll JB, Gillis T, Gusella JF, MacDonald ME, Wheeler VC. Mouro Pinto R, et al. Among authors: elezi e. bioRxiv [Preprint]. 2024 Jun 9:2024.06.08.597823. doi: 10.1101/2024.06.08.597823. bioRxiv. 2024. Update in: Nat Genet. 2025 Feb;57(2):314-322. doi: 10.1038/s41588-024-02054-5. PMID: 38895438 Free PMC article. Updated. Preprint.
Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease.
Kim KH, Hong EP, Lee Y, McLean ZL, Elezi E, Lee R, Kwak S, McAllister B, Massey TH, Lobanov S, Holmans P, Orth M, Ciosi M, Monckton DG, Long JD, Lucente D, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. Kim KH, et al. Among authors: elezi e. Proc Natl Acad Sci U S A. 2024 Apr 16;121(16):e2322924121. doi: 10.1073/pnas.2322924121. Epub 2024 Apr 12. Proc Natl Acad Sci U S A. 2024. PMID: 38607933 Free PMC article.
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