title: Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
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.
authors.affiliation: Genomic & Molecular Medicine Group, MRC Clinical Sciences Centre, Imperial College, London, England, UK.
authors.forename: Bethan
authors.initials: B
authors.lastname: Jones
authors.forename: Emma L
authors.initials: EL
authors.lastname: Jones
authors.forename: Stephanie A
authors.initials: SA
authors.lastname: Bonney
authors.forename: Hetal N
authors.initials: HN
authors.lastname: Patel
authors.forename: Arjen R
authors.initials: AR
authors.lastname: Mensenkamp
authors.forename: Sophie
authors.initials: S
authors.lastname: Eichenbaum-Voline
authors.forename: Mats
authors.initials: M
authors.lastname: Rudling
authors.forename: Urban
authors.initials: U
authors.lastname: Myrdal
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
authors.forename: Sandhia
authors.initials: S
authors.lastname: Naik
authors.forename: Nigel
authors.initials: N
authors.lastname: Meadows
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
authors.forename: Suhail A
authors.initials: SA
authors.lastname: Islam
authors.forename: Rossitza P
authors.initials: RP
authors.lastname: Naoumova
authors.forename: Bo
authors.initials: B
authors.lastname: Angelin
authors.forename: Recaredo
authors.initials: R
authors.lastname: Infante
authors.forename: Emile
authors.initials: E
authors.lastname: Levy
authors.forename: Claude C
authors.initials: CC
authors.lastname: Roy
authors.forename: Paul S
authors.initials: PS
authors.lastname: Freemont
authors.forename: James
authors.initials: J
authors.lastname: Scott
authors.forename: Carol C
authors.initials: CC
authors.lastname: Shoulders
mesh_terms: D022181:COP-Coated Vesicles / Q000201:enzymology; D002914:Chylomicrons / Q000378:metabolism; D004041:Dietary Fats / Q000493:pharmacokinetics*; D005260:Female; D020558:GTP Phosphohydrolases / Q000737:chemistry / Q000235:genetics*; D006011:Glycogen Storage Disease Type IV / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007408:Intestinal Absorption; D008286:Malabsorption Syndromes / Q000201:enzymology* / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008958:Models, Molecular; D009154:Mutation; D010375:Pedigree; D011487:Protein Conformation; D013132:Spinocerebellar Degenerations / Q000201:enzymology / Q000235:genetics
chemical_list: D002914:Chylomicrons; D004041:Dietary Fats; D020558:GTP Phosphohydrolases