Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

被引：277

作者：

Jones, B

Jones, EL

Bonney, SA

Patel, HN

Mensenkamp, AR

Eichenbaum-Voline, S

Rudling, M

Myrdal, U

Annesi, G

Naik, S

Meadovvs, N

Quattrone, A

Islam, SA

Naoumova, RP

Angelin, B

Infante, R

Levy, E

Roy, CC

Freemont, PS

Scott, J ^{[1
]}

Shoulders, CC

机构：

[1] Univ London Imperial Coll Sci Technol & Med, Genom & Mol Med Grp, MRC, Ctr Clin Sci, London, England

[2] Huddinge Univ Hosp, Ctr Metab & Endocrinol, Karolinska Inst, Stockholm, Sweden

[3] Huddinge Univ Hosp, Ctr Nutr & Toxicol, Karolinska Inst, Stockholm, Sweden

[4] Cent Hosp Vasteras, Dept Paediat, Vasteras, Sweden

[5] CNR, Inst Neurol Sci, Piano Lago Of Mangone, Consenza, Italy

[6] Barts & London, Dept Adult & Paediat Gastroenterol, Queen Marys Sch Med & Dent, London, England

[7] Univ London Imperial Coll Sci Technol & Med, Struct Bioinformat Grp, London, England

[8] INSERM, Ctr Rech, Paris 12, France

[9] Univ Montreal, Ctr Rech, Hop St Justine, Montreal, PQ H3C 3J7, Canada

[10] Univ London Imperial Coll Sci Technol & Med, Ctr Struct Biol, Dept Sci Biol, London, England

[11] Univ London Imperial Coll Sci Technol & Med, Genet & Genom Res Inst, London, England

来源：

NATURE GENETICS | 2003年 / 34卷 / 01期

关键词：

D O I：

10.1038/ng1145

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：29 / 31

页数：3

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[1] Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders
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