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Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders 总被引：10，自引：0，他引：10
Jones B Jones EL Bonney SA Patel HN Mensenkamp AR Eichenbaum-Voline S Rudling M Myrdal U Annesi G Naik S Meadows N Quattrone A Islam SA Naoumova RP Angelin B Infante R Levy E Roy CC Freemont PS Scott J Shoulders CC 《Nature genetics》2003,34(1):29-31
Dietary fat is an important source of nutrition. Here we identify eight mutations in SARA2 that are associated with three severe disorders of fat malabsorption. The Sar1 family of proteins initiates the intracellular transport of proteins in COPII (coat protein)-coated vesicles. Our data suggest that chylomicrons, which vastly exceed the size of typical COPII vesicles, are selectively recruited by the COPII machinery for transport through the secretory pathways of the cell. 相似文献
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