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

被引：0

作者：

Bethan Jones

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

机构：

[1] Genomic & Molecular Medicine Group,Department of Paediatrics

[2] MRC Clinical Sciences Centre,Department of Adult & Paediatric Gastroenterology

[3] Imperial College,Centre for Structural Biology Department of Biological Sciences

[4] Center for Metabolism & Endocrinology and Center for Nutrition and Toxicology,undefined

[5] Karolinska Institute at Huddinge University Hospital,undefined

[6] Central Hospital,undefined

[7] Institute of Neurological Sciences,undefined

[8] National Research Council,undefined

[9] Piano Lago of Mangone,undefined

[10] Barts and the London,undefined

[11] Queen Mary's School of Medicine and Dentistry,undefined

[12] Structural Bioinformatics Group,undefined

[13] Imperial College London,undefined

[14] Centre de Recherche INSERM,undefined

[15] Centre de Recherche,undefined

[16] Hôpital Sainte-Justine,undefined

[17] Universite de Montréal,undefined

[18] Imperial College London,undefined

[19] Imperial College Genetics and Genomics Research Institute,undefined

[20] Imperial College London,undefined

来源：

Nature Genetics | 2003年 / 34卷

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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：2

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