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Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function.
Zeissig S, Dougan SK, Barral DC, Junker Y, Chen Z, Kaser A, Ho M, Mandel H, McIntyre A, Kennedy SM, Painter GF, Veerapen N, Besra GS, Cerundolo V, Yue S, Beladi S, Behar SM, Chen X, Gumperz JE, Breckpot K, Raper A, Baer A, Exley MA, Hegele RA, Cuchel M, Rader DJ, Davidson NO, Blumberg RS. Zeissig S, et al. J Clin Invest. 2010 Aug;120(8):2889-99. doi: 10.1172/JCI42703. Epub 2010 Jul 1. J Clin Invest. 2010. PMID: 20592474 Free PMC article.
Recognition of microbial and mammalian phospholipid antigens by NKT cells with diverse TCRs.
Tatituri RV, Watts GF, Bhowruth V, Barton N, Rothchild A, Hsu FF, Almeida CF, Cox LR, Eggeling L, Cardell S, Rossjohn J, Godfrey DI, Behar SM, Besra GS, Brenner MB, Brigl M. Tatituri RV, et al. Proc Natl Acad Sci U S A. 2013 Jan 29;110(5):1827-32. doi: 10.1073/pnas.1220601110. Epub 2013 Jan 10. Proc Natl Acad Sci U S A. 2013. PMID: 23307809 Free PMC article.