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SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.
Tapia Del Fierro A, den Hamer B, Benetti N, Jansz N, Chen K, Beck T, Vanyai H, Gurzau AD, Daxinger L, Xue S, Ly TTN, Wanigasuriya I, Iminitoff M, Breslin K, Oey H, Krom YD, van der Hoorn D, Bouwman LF, Johanson TM, Ritchie ME, Gouil QA, Reversade B, Prin F, Mohun T, van der Maarel SM, McGlinn E, Murphy JM, Keniry A, de Greef JC, Blewitt ME. Tapia Del Fierro A, et al. Among authors: van der hoorn d. Nat Commun. 2023 Sep 25;14(1):5466. doi: 10.1038/s41467-023-40992-6. Nat Commun. 2023. PMID: 37749075 Free PMC article.
Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7.
Huang YT, Crick HR, Chaytow H, van der Hoorn D, Alhindi A, Jones RA, Hector RD, Cobb SR, Gillingwater TH. Huang YT, et al. Among authors: van der hoorn d. Mol Ther Nucleic Acids. 2023 Aug 2;33:617-628. doi: 10.1016/j.omtn.2023.07.036. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37637210 Free PMC article.
The mitochondrial protein Sideroflexin 3 (SFXN3) influences neurodegeneration pathways in vivo.
Ledahawsky LM, Terzenidou ME, Edwards R, Kline RA, Graham LC, Eaton SL, van der Hoorn D, Chaytow H, Huang YT, Groen EJN, Motyl AAL, Lamont DJ, Tokatlidis K, Wishart TM, Gillingwater TH. Ledahawsky LM, et al. Among authors: van der hoorn d. FEBS J. 2022 Jul;289(13):3894-3914. doi: 10.1111/febs.16377. Epub 2022 Feb 6. FEBS J. 2022. PMID: 35092170 Free PMC article.