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Article

Compound missense mutations in the sodium/D-glucose cotransporter result in trafficking defects.

Gastroenterology - 1 Apr 1997

Martín M G, Lostao M P, Turk E, Lam J, Kreman M, Wright E M

Abstract excerpt

BACKGROUND & AIMS: Defects in the Na+-dependent glucose transporter (SGLT1) are associated with the disorder glucose-galactose malabsorption, characterized by severe diarrhea. This study focused on a unique proband with glucose-galactose malabsorption who was investigated 30 years ago, and the aims of the study were to identify mutations in the SGLT1 gene and to determine the defect in sugar transport. METHODS:...

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Source

Identifiers

PMID: 9098004
DOI: 10.1016/s0016-5085(97)70132-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Compound missense mutations in the sodium/D-glucose cotransporter result in trafficking defects.PMID 9098004Read ↗

Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.Semantic proximity Read ↗

Molecular basis for glucose-galactose malabsorption.Semantic proximity Read ↗

A missense mutation in the Na+/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant proteinSemantic proximity Read ↗

Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption.Semantic proximity Read ↗

Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter.Semantic proximity Read ↗

SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption.Semantic proximity Read ↗

Identification of a disulfide bridge linking the fourth and the seventh extracellular loops of the Na+/glucose cotransporter.Semantic proximity Read ↗

Autosomal dominant Glut‐1 deficiency syndrome and familial epilepsySemantic proximity Read ↗

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.Semantic proximity Read ↗

Structural insights into genetic variants of Na(+)/glucose cotransporter SGLT1 causing glucose-galactose malabsorption: vSGLT as a model structure.Semantic proximity Read ↗

Structure of the human Na+/glucose cotransporter gene SGLT1.Semantic proximity Read ↗

Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer.Semantic proximity Read ↗

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