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Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models.
Williams LA, Gerber DJ, Elder A, Tseng WC, Baru V, Delaney-Busch N, Ambrosi C, Mahimkar G, Joshi V, Shah H, Harikrishnan K, Upadhyay H, Rajendran SH, Dhandapani A, Meier J, Ryan SJ, Lewarch C, Black L, Douville J, Cinquino S, Legakis H, Nalbach K, Behrends C, Sato A, Galluzzi L, Yu TW, Brown D, Agrawal S, Margulies D, Kopin A, Dempsey GT. Williams LA, et al. Among authors: legakis h. Mol Ther Nucleic Acids. 2022 Jun 22;29:189-203. doi: 10.1016/j.omtn.2022.06.015. eCollection 2022 Sep 13. Mol Ther Nucleic Acids. 2022. PMID: 35860385 Free PMC article.
Targeting the signaling pathway of acylation stimulating protein.
Maslowska M, Legakis H, Assadi F, Cianflone K. Maslowska M, et al. Among authors: legakis h. J Lipid Res. 2006 Mar;47(3):643-52. doi: 10.1194/jlr.M500500-JLR200. Epub 2005 Dec 6. J Lipid Res. 2006. PMID: 16333141 Free article.
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.
Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Doré C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS. Watkins D, et al. Among authors: legakis h. Am J Hum Genet. 2002 Jul;71(1):143-53. doi: 10.1086/341354. Epub 2002 May 30. Am J Hum Genet. 2002. PMID: 12068375 Free PMC article.