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Reversal of C9orf72 mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision.
Sachdev A, Gill K, Sckaff M, Birk AM, Aladesuyi Arogundade O, Brown KA, Chouhan RS, Issagholian-Lewin PO, Patel E, Watry HL, Bernardi MT, Keough KC, Tsai YC, Smith AST, Conklin BR, Clelland CD. Sachdev A, et al. Among authors: sckaff m. Proc Natl Acad Sci U S A. 2024 Apr 23;121(17):e2307814121. doi: 10.1073/pnas.2307814121. Epub 2024 Apr 15. Proc Natl Acad Sci U S A. 2024. PMID: 38621131 Free PMC article.
Validated assays for the quantification of C9orf72 human pathology.
Salomonsson SE, Maltos AM, Gill K, Aladesuyi Arogundade O, Brown KA, Sachdev A, Sckaff M, Lam KJK, Fisher IJ, Chouhan RS, Van Laar VS, Marley CB, McLaughlin I, Bankiewicz KS, Tsai YC, Conklin BR, Clelland CD. Salomonsson SE, et al. Among authors: sckaff m. Sci Rep. 2024 Jan 8;14(1):828. doi: 10.1038/s41598-023-50667-3. Sci Rep. 2024. PMID: 38191789 Free PMC article.