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Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.
Kondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L. Kondo Y, et al. Among authors: fu j. JCI Insight. 2018 Jul 26;3(14):e121596. doi: 10.1172/jci.insight.121596. eCollection 2018 Jul 26. JCI Insight. 2018. PMID: 30046013 Free PMC article.
Loss of intestinal core 1-derived O-glycans causes spontaneous colitis in mice.
Fu J, Wei B, Wen T, Johansson ME, Liu X, Bradford E, Thomsson KA, McGee S, Mansour L, Tong M, McDaniel JM, Sferra TJ, Turner JR, Chen H, Hansson GC, Braun J, Xia L. Fu J, et al. J Clin Invest. 2011 Apr;121(4):1657-66. doi: 10.1172/JCI45538. Epub 2011 Mar 7. J Clin Invest. 2011. PMID: 21383503 Free PMC article.
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