Altered Folding, Turnover, and Polarized Sorting Act in Concert to Define a Novel Pathomechanism of Congenital Sucrase-Isomaltase Deficiency
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference28 articles.
1. Congenital Sucrase-Isomaltase Deficiency
2. 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]
3. A Study of the Molecular Pathology of Sucrase-Isomaltase Deficiency
4. Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme.
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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 Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives;The Application of Clinical Genetics;2023-03
3. Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China;Frontiers in Pediatrics;2021-12-02
4. The glucose-regulated protein GRP94 interacts avidly in the endoplasmic reticulum with sucrase-isomaltase isoforms that are associated with congenital sucrase-isomaltase deficiency;International Journal of Biological Macromolecules;2021-09
5. Hypomorphic SI genetic variants are associated with childhood chronic loose stools;PLOS ONE;2020-05-20
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