Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. (Articolo in rivista)

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Label
  • Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. (Articolo in rivista) (literal)
Anno
  • 2003-01-01T00:00:00+01:00 (literal)
Alternative label
  • 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. (2003)
    Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
    in Nature genetics (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • 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. (literal)
Pagina inizio
  • 29 (literal)
Pagina fine
  • 31 (literal)
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  • 34 (literal)
Rivista
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  • We report 8 mutations in a protein of the highly conserved COP vesicular transport system in three disorders of lipid absorption (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1,6,9,10 Imperial College,London;UK.(Jones,Jones,Bonney,Patel,Mensenkamp,Eichenbaum-Voline,Islam,Freemont,Scott,Shoulders, Naumova) 2, Karolinska Inst., Stockholm, Sweden (Rudling, Angelin) 3, Central Hosp., Vasteras, Sweden (Myrdal) 4. Inst.of Neurol. Sc., CNR,Cosenza, Italy.(Annesi, Quattrone) 5. Queen Mary's Sch. of Med.& Dent., London, UK.(Naik, Meadows) 7. INSERM, Paris, France (Infante) 8. Hosp. Sainte-Justine, Univ. MontrĂ©al, Canada (Levy, Roy) (literal)
Titolo
  • Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. (literal)
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. (literal)
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