Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme
Author:
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Reference32 articles.
1. Transport to cell surface of intestinal sucrase-isomaltase is blocked in the Golgi apparatus in a patient with congenital sucrase-isomaltase deficiency.
2. A Study of the Molecular Pathology of Sucrase-Isomaltase Deficiency
3. Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme.
4. Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit [published erratum appears in J Cell Biol 1991 Dec;115(5):following 1473]
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1. Genetic and acquired sucrase‐isomaltase deficiency: A clinical review;Journal of Pediatric Gastroenterology and Nutrition;2024-02-08
2. Genetic Variants in Carbohydrate Digestive Enzyme and Transport Genes Associated with Risk of Irritable Bowel Syndrome;2023-09-22
3. Interaction between the α-glucosidases, sucrase-isomaltase and maltase-glucoamylase, in human intestinal brush border membranes and its potential impact on disaccharide digestion;Frontiers in Molecular Biosciences;2023-03-08
4. Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives;The Application of Clinical Genetics;2023-03
5. Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China;Frontiers in Pediatrics;2021-12-02
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