ArticleThe Journal of clinical investigation1996
Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment.
Article in The Journal of clinical investigation, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 86 citations in OpenAlex.
- Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives.The application of clinical genetics · 2023Review
- The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2021Observational
- Two Novel Mutations in theFrontiers in pediatrics · 2021Article
- Article
- Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.Nutrients · 2019Article
- Congenital chloride losing diarrhea: A single center experience in a highly consanguineous population.Medicine · 2019Article
- Tracking the Cartoon mouse phenotype: Hemopexin domain-dependent regulation of MT1-MMP pericellular collagenolytic activity.The Journal of biological chemistry · 2018Article
- Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases.Physiological reviews · 2018Review
- Article
- Rhombic organization of microvilli domains found in a cell model of the human intestine.PloS one · 2018Article
- Structure-function analysis of human sucrase-isomaltase identifies key residues required for catalytic activity.The Journal of biological chemistry · 2017Article
- Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.Journal of pediatric gastroenterology and nutrition · 2017Article
- Review
- Article
- Structural basis for substrate selectivity in human maltase-glucoamylase and sucrase-isomaltase N-terminal domains.The Journal of biological chemistry · 2010Article
- Aberrant trafficking of human melanocortin 1 receptor variants associated with red hair and skin cancer: Steady-state retention of mutant forms in the proximal golgi.Journal of cellular physiology · 2009Article
- 13C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented patients.Journal of pediatric gastroenterology and nutrition · 2009Article
- Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis.BMC pediatrics · 2002Article
- Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme.The Journal of clinical investigation · 2000Article
- Rotavirus infection reduces sucrase-isomaltase expression in human intestinal epithelial cells by perturbing protein targeting and organization of microvillar cytoskeleton.Journal of virology · 1998Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital sucrase-isomaltase deficiency is an example of a disease in which mutant phenotypes generate transport-incompetent molecules. Here, we analyze at the molecular level a phenotype of congenital sucrase-isomaltase deficiency in which sucrase-isomaltase (SI) is not transported to the brush border membrane but accumulates as a mannose-rich precursor in the endoplasmic reticulum (ER), ER-Golgi intermediate compartment, and the cis-Golgi, where it is finally degraded. A 6-kb clone containing the full-length cDNA encoding SI was isolated from the patient's intestinal tissue and from normal controls. Sequencing of the cDNA revealed a single mutation, A/C at nucleotide 3298 in the coding region of the sucrase subunit of the enzyme complex. The mutation leads to a substitution of the glutamine residue by a proline at amino acid 1098 (Q1098P). The Q1098P mutation lies in a region that is highly conserved between sucrase and isomaltase from different species and several other structurally and functionally related proteins. This is the first report that characterizes a point mutation in the SI gene that is responsible for the transport incompetence of SI and for its retention between the ER and the Golgi.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.