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
发表日期
2003/5
期刊
Nature genetics
卷号
34
期号
1
页码范围
29-31
出版商
Nature Publishing Group US
简介
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.
引用总数
学术搜索中的文章
B Jones, EL Jones, SA Bonney, HN Patel… - Nature genetics, 2003