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Page 1
A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
Fay A, Garcia Y, Margeta M, Maharjan S, Jürgensen C, Briceño J, Garcia M, Yin S, Bassaganyas L, McMahon T, Hou YM, Fu YH, Ptáček LJ. Fay A, et al. Among authors: hou ym. Ann Neurol. 2020 Oct;88(4):830-842. doi: 10.1002/ana.25854. Epub 2020 Aug 29. Ann Neurol. 2020. PMID: 32715519 Free PMC article.
How to Untie a Protein Knot.
Yin S, Dhital B, Hou YM. Yin S, et al. Among authors: hou ym. Structure. 2019 Aug 6;27(8):1190-1191. doi: 10.1016/j.str.2019.07.008. Structure. 2019. PMID: 31390544 Free article.
tRNA methylation resolves codon usage bias at the limit of cell viability.
Masuda I, Yamaki Y, Detroja R, Tagore S, Moore H, Maharjan S, Nakano Y, Christian T, Matsubara R, Lowe TM, Frenkel-Morgenstern M, Hou YM. Masuda I, et al. Among authors: hou ym. Cell Rep. 2022 Oct 25;41(4):111539. doi: 10.1016/j.celrep.2022.111539. Cell Rep. 2022. PMID: 36288695 Free PMC article.
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC; NISC Comparative Sequencing Program; Biesecker LG, Wilson TE, Ionasescu V, Nicholson G, Searby C, Talbot K, Vance JM, Züchner S, Szigeti K, Lupski JR, Hou YM, Green ED, Antonellis A. McLaughlin HM, et al. Among authors: hou ym. Am J Hum Genet. 2010 Oct 8;87(4):560-6. doi: 10.1016/j.ajhg.2010.09.008. Am J Hum Genet. 2010. PMID: 20920668 Free PMC article.
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
McLaughlin HM, Sakaguchi R, Giblin W; NISC Comparative Sequencing Program; Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Züchner S, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A. McLaughlin HM, et al. Among authors: hou ym. Hum Mutat. 2012 Jan;33(1):244-53. doi: 10.1002/humu.21635. Epub 2011 Nov 9. Hum Mutat. 2012. PMID: 22009580 Free PMC article.
300 results