Defects in Na+ glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption

被引：209

作者：

Martin, MG ^{[1
]}

Turk, E ^{[1
]}

Lostao, MP ^{[1
]}

Kerner, C ^{[1
]}

Wright, EM ^{[1
]}

机构：

[1] UNIV CALIF LOS ANGELES,SCH MED,DEPT PEDIAT,LOS ANGELES,CA 90095

来源：

NATURE GENETICS | 1996年 / 12卷 / 02期

关键词：

D O I：

10.1038/ng0296-216

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cotransporters harness ion gradients to drive 'active' transport of substrates into cells, for example, the Na+/glucose cotransporter (SGLT1) couples sugar transport to Na+ gradients across the intestinal brush border. Glucose-Galactose Malabsorption (GGM) is caused by a defect in SGLT1. The phenotype is neonatal onset of diarrhea that results in death unless these sugars are removed from the diet. Previously we showed that two sisters with GGM had a missense mutation in the SGLT1 gene. The gene has now been screened in 30 new patients, and a heterologous expression system has been used to link the mutations to the phenotype.

引用

页码：216 / 220

页数：5

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