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Crystal structure of the hinge domain of Smchd1 reveals its dimerization mode and nucleic acid-binding residues.
Sci Signal. 2020 Jun 16;13(636):eaaz5599. doi: 10.1126/scisignal.aaz5599.
Sci Signal. 2020.
PMID: 32546545
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B.
Gordon CT, et al. Among authors: gurzau ad.
Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9.
Nat Genet. 2017.
PMID: 28067911
Free article.
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FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.
Gurzau AD, Chen K, Xue S, Dai W, Lucet IS, Ly TTN, Reversade B, Blewitt ME, Murphy JM.
Gurzau AD, et al.
J Biol Chem. 2018 Jun 22;293(25):9841-9853. doi: 10.1074/jbc.RA118.003104. Epub 2018 May 10.
J Biol Chem. 2018.
PMID: 29748383
Free PMC article.
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SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Dion C, Roche S, Laberthonnière C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard MC, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, Ratbi L, Sefiani A, Wollnik B, Binetruy B, Salort Campana E, Attarian S, Bernard R, Nguyen K, Amiel J, Dumonceaux J, Murphy JM, Déjardin J, Blewitt ME, Reversade B, Robin JD, Magdinier F.
Dion C, et al. Among authors: gurzau ad.
Nucleic Acids Res. 2019 Apr 8;47(6):2822-2839. doi: 10.1093/nar/gkz005.
Nucleic Acids Res. 2019.
PMID: 30698748
Free PMC article.
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Relating SMCHD1 structure to its function in epigenetic silencing.
Gurzau AD, Blewitt ME, Czabotar PE, Murphy JM, Birkinshaw RW.
Gurzau AD, et al.
Biochem Soc Trans. 2020 Aug 28;48(4):1751-1763. doi: 10.1042/BST20200242.
Biochem Soc Trans. 2020.
PMID: 32779700
Free PMC article.
Review.
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SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization.
Gurzau AD, Horne CR, Mok YF, Iminitoff M, Willson TA, Young SN, Blewitt ME, Murphy JM.
Gurzau AD, et al.
Biochem J. 2021 Jul 16;478(13):2555-2569. doi: 10.1042/BCJ20210278.
Biochem J. 2021.
PMID: 34109974
Free PMC article.
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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: gurzau ad.
Nat Commun. 2023 Sep 25;14(1):5466. doi: 10.1038/s41467-023-40992-6.
Nat Commun. 2023.
PMID: 37749075
Free PMC article.
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