Missense mutations in SGLT1 cause glucose–galactose malabsorption by trafficking defects

Author:

Lam Jason T.,Martı́n Martı́n G.,Turk Eric,Hirayama Bruce A.,Bosshard Nils U.,Steinmann Beat,Wright Ernest M.

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference24 articles.

1. J.-F. Desjeux, E. Turk, E.M. Wright, Congenital selective Na+ d-glucose cotransport defects leading to renal glycosuria and congenital selective intestinal malabsorption of glucose and galactose, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), Metabolic Basis of Inherited Disease, 7th edn., McGraw-Hill, New York, 1995, pp. 3563–3580.

2. Relations between Na+/glucose cotransporter (SGLT1) currents and fluxes;Mackenzie;J. Membr. Biol.,1998

3. V.A. McKusick, Mendelian Inheritance in Man: Catalogs of Human Genes and Genetic disorders, 12th edn., Johns Hopkins University Press, Baltimore, MD, 1998. Available also as ‘On-line Mendelian Inheritance in Man (OMIM)’ (http://www3.ncbi.nlm.nih.gov/Omim/searchomim.html); OMIM # 182380.

4. Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter;Turk;Nature,1991

5. Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose–galactose malabsorption;Martı́n;Nat. Genet.,1996

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