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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. Among authors: blumberg rs. 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.
Activation of natural killer T cells by alpha-galactosylceramide in the presence of CD1d provides protection against colitis in mice.
Saubermann LJ, Beck P, De Jong YP, Pitman RS, Ryan MS, Kim HS, Exley M, Snapper S, Balk SP, Hagen SJ, Kanauchi O, Motoki K, Sakai T, Terhorst C, Koezuka Y, Podolsky DK, Blumberg RS. Saubermann LJ, et al. Among authors: blumberg rs. Gastroenterology. 2000 Jul;119(1):119-28. doi: 10.1053/gast.2000.9114. Gastroenterology. 2000. PMID: 10889161
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