| Literature DB >> 12692552 |
Bethan Jones1, Emma L Jones, Stephanie A Bonney, Hetal N Patel, Arjen R Mensenkamp, Sophie Eichenbaum-Voline, Mats Rudling, Urban Myrdal, Grazia Annesi, Sandhia Naik, Nigel Meadows, Aldo Quattrone, Suhail A Islam, Rossitza P Naoumova, Bo Angelin, Recaredo Infante, Emile Levy, Claude C Roy, Paul S Freemont, James Scott, Carol C Shoulders.
Abstract
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.Entities:
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Year: 2003 PMID： 12692552 DOI： 10.1038/ng1145
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330