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Page 1
Proinsulin C-peptide is a major source of HLA-DQ8 restricted hybrid insulin peptides recognized by human islet-infiltrating CD4+ T cells.
Bhattacharjee P, Pakusch M, Lacorcia M, Tresoldi E, Rubin AF, Foster A, King L, Chiu CY, Kay TWH, Karas JA, Cameron FJ, Mannering SI. Bhattacharjee P, et al. Among authors: pakusch m. PNAS Nexus. 2024 Nov 1;3(11):pgae491. doi: 10.1093/pnasnexus/pgae491. eCollection 2024 Nov. PNAS Nexus. 2024. PMID: 39554513 Free PMC article.
BAF complex-mediated chromatin relaxation is required for establishment of X chromosome inactivation.
Keniry A, Jansz N, Gearing LJ, Wanigasuriya I, Chen J, Nefzger CM, Hickey PF, Gouil Q, Liu J, Breslin KA, Iminitoff M, Beck T, Tapia Del Fierro A, Whitehead L, Jarratt A, Kinkel SA, Taberlay PC, Willson T, Pakusch M, Ritchie ME, Hilton DJ, Polo JM, Blewitt ME. Keniry A, et al. Among authors: pakusch m. Nat Commun. 2022 Mar 29;13(1):1658. doi: 10.1038/s41467-022-29333-1. Nat Commun. 2022. PMID: 35351876 Free PMC article.
Proinsulin C-peptide is an autoantigen in people with type 1 diabetes.
So M, Elso CM, Tresoldi E, Pakusch M, Pathiraja V, Wentworth JM, Harrison LC, Krishnamurthy B, Thomas HE, Rodda C, Cameron FJ, McMahon J, Kay TWH, Mannering SI. So M, et al. Among authors: pakusch m. Proc Natl Acad Sci U S A. 2018 Oct 16;115(42):10732-10737. doi: 10.1073/pnas.1809208115. Epub 2018 Oct 1. Proc Natl Acad Sci U S A. 2018. PMID: 30275329 Free PMC article.
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.
de Greef JC, Krom YD, den Hamer B, Snider L, Hiramuki Y, van den Akker RFP, Breslin K, Pakusch M, Salvatori DCF, Slütter B, Tawil R, Blewitt ME, Tapscott SJ, van der Maarel SM. de Greef JC, et al. Among authors: pakusch m. Hum Mol Genet. 2018 Feb 15;27(4):716-731. doi: 10.1093/hmg/ddx437. Hum Mol Genet. 2018. PMID: 29281018 Free PMC article.
Setdb1-mediated H3K9 methylation is enriched on the inactive X and plays a role in its epigenetic silencing.
Keniry A, Gearing LJ, Jansz N, Liu J, Holik AZ, Hickey PF, Kinkel SA, Moore DL, Breslin K, Chen K, Liu R, Phillips C, Pakusch M, Biben C, Sheridan JM, Kile BT, Carmichael C, Ritchie ME, Hilton DJ, Blewitt ME. Keniry A, et al. Among authors: pakusch m. Epigenetics Chromatin. 2016 May 18;9:16. doi: 10.1186/s13072-016-0064-6. eCollection 2016. Epigenetics Chromatin. 2016. PMID: 27195021 Free PMC article.
Epigenetic regulator Smchd1 functions as a tumor suppressor.
Leong HS, Chen K, Hu Y, Lee S, Corbin J, Pakusch M, Murphy JM, Majewski IJ, Smyth GK, Alexander WS, Hilton DJ, Blewitt ME. Leong HS, et al. Among authors: pakusch m. Cancer Res. 2013 Mar 1;73(5):1591-9. doi: 10.1158/0008-5472.CAN-12-3019. Epub 2012 Dec 26. Cancer Res. 2013. PMID: 23269277
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