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Page 1
Global mapping of glycosylation pathways in human-derived cells.
Huang YF, Aoki K, Akase S, Ishihara M, Liu YS, Yang G, Kizuka Y, Mizumoto S, Tiemeyer M, Gao XD, Aoki-Kinoshita KF, Fujita M. Huang YF, et al. Dev Cell. 2021 Apr 19;56(8):1195-1209.e7. doi: 10.1016/j.devcel.2021.02.023. Epub 2021 Mar 16. Dev Cell. 2021. PMID: 33730547 Free PMC article.
Neuropathic pain in a Fabry disease rat model.
Miller JJ, Aoki K, Moehring F, Murphy CA, O'Hara CL, Tiemeyer M, Stucky CL, Dahms NM. Miller JJ, et al. JCI Insight. 2018 Mar 22;3(6):e99171. doi: 10.1172/jci.insight.99171. JCI Insight. 2018. PMID: 29563343 Free PMC article.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership; Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. Ferreira CR, et al. Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003. Am J Hum Genet. 2018. PMID: 30290151 Free PMC article.