ArticleThe Journal of clinical investigation1995
Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.
Article in The Journal of clinical investigation, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed.
- Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib.The American journal of clinical nutrition · 2008Trial
- Intestinal function in glycogen storage disease type I.Journal of inherited metabolic disease · 2002Trial
- Metabolic control and renal dysfunction in type I glycogen storage disease.Journal of inherited metabolic disease · 1997Trial
- The unanticipated role of the glial-associated glucose-6-phosphatase system in brain homeostasis.iScience · 2025Review
- [Clinical analysis and follow-up outcomes of 25 pediatric cases with hepatic glycogen storage disease].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2025Article
- Investigating the Secondary Care System Burden of Glycogen Storage Disease Type Ia (GSDIa) Using the Hospital Episode Statistics Database.Journal of health economics and outcomes research · 2025Article
- Efficient and reproducible generation of human induced pluripotent stem cell-derived expandable liver organoids for disease modeling.Scientific reports · 2023Article
- mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease.Nature communications · 2021Article
- Metabolic Profiling in Human Fibroblasts Enables Subtype Clustering in Glycogen Storage Disease.Frontiers in endocrinology · 2020Article
- Molecular diagnosis of glycogen storage disease type I: a review.EXCLI journal · 2019Review
- The Physiopathological Role of the Exchangers Belonging to the SLC37 Family.Frontiers in chemistry · 2018Review
- Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.Journal of genetics · 2017Article
- High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type Ia.JIMD reports · 2015Article
- Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.Italian journal of pediatrics · 2014Article
- Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.Genetics and molecular biology · 2013Article
- Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients.Journal of inherited metabolic disease · 2012Article
- Glycogen storage disease type Ia in canines: a model for human metabolic and genetic liver disease.Journal of biomedicine & biotechnology · 2011Review
- Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b.European journal of pediatrics · 2009Article
- A detailed characterization of the adult mouse model of glycogen storage disease Ia.Laboratory investigation; a journal of technical methods and pathology · 2009Article
- Adalimumab for the treatment of Crohn-like colitis and enteritis in glycogen storage disease type Ib.Journal of inherited metabolic disease · 2008Article
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7 authors.
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Abstract
Glycogen storage disease (GSD) type 1, which is caused by the deficiency of glucose-6-phosphatase (G6Pase), is an autosomal recessive disease with heterogenous symptoms. Two models of G6Pase catalysis have been proposed to explain the observed heterogeneities. The translocase-catalytic unit model proposes that five GSD type 1 subgroups exist which correspond to defects in the G6Pase catalytic unit (1a), a stabilizing protein (1aSP), the glucose-6-P (1b), phosphate/pyrophosphate (1c), and glucose (1d) translocases. Conversely, the conformation-substrate-transport model suggests that G6Pase is a single multifunctional membrane channel protein possessing both catalytic and substrate (or product) transport activities. We have recently demonstrated that mutations in the G6Pase catalytic unit cause GSD type 1a. To elucidate whether mutations in the G6Pase gene are responsible for other GSD type 1 subgroups, we characterized the G6Pase gene of GSD type 1b, 1c, and 1aSP patients. Our results show that the G6Pase gene of GSD type 1b and 1c patients is normal, consistent with the translocase-catalytic unit model of G6Pase catalysis. However, a mutation in exon 2 that converts an Arg at codon 83 to a Cys (R83C) was identified in both G6Pase alleles of the type 1aSP patient. The R83C mutation was also demonstrated in one homozygous and five heterogenous GSD type 1a patients, indicating that type 1aSP is a misclassification of GSD type 1a. We have also analyzed the G6Pase gene of seven additional type 1a patients and uncovered two new mutations that cause GSD type 1a.
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