ArticleMolecular endocrinology (Baltimore, Md.)2009
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.
Article in Molecular endocrinology (Baltimore, Md.), 2009. 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, 34 citations in OpenAlex.
- Mild Congenital Hyperinsulinism Caused by Mutation in HumanJCEM case reports · 2024Article
- Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.Histology and histopathology · 2024Review
- Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations.Diabetes · 2023Article
- Glucokinase Variant Proteins Are Resistant to Fasting-Induced Uridine Diphosphate Glucose-Dependent Degradation in Maturity-Onset Diabetes of the Young Type 2 Patients.International journal of molecular sciences · 2023Article
- Article
- Reducing Glucokinase Activity to Enhance Insulin Secretion: A Counterintuitive Theory to Preserve Cellular Function and Glucose Homeostasis.Frontiers in endocrinology · 2020Article
- How Heterogeneity in Glucokinase and Gap-Junction Coupling Determines the Islet [CaBiophysical journal · 2019Article
- Clinical and enzymatic phenotypes in congenital hyperinsulinemic hypoglycemia due to glucokinase-activating mutations: A report of two cases and a brief overview of the literature.Journal of diabetes investigation · 2019Article
- Hyperinsulinemic hypoglycemia subtype glucokinase V91L mutant induces necrosis in β-cells via ATP depletion.Biochemistry and biophysics reports · 2019Article
- The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.Frontiers in endocrinology · 2019Review
- Congenital Hyperinsulinism: Diagnosis and Treatment Update.Journal of clinical research in pediatric endocrinology · 2017Review
- Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.International journal of pediatric endocrinology · 2017Review
- Glucokinase mutation-a rare cause of recurrent hypoglycemia in adults: a case report and literature review.Journal of community hospital internal medicine perspectives · 2016Article
- Lack of glibenclamide response in a case of permanent neonatal diabetes caused by incomplete inactivation of glucokinase.JIMD reports · 2015Article
- Congenital hyperinsulinism: current status and future perspectives.Annals of pediatric endocrinology & metabolism · 2014Review
- A phospho-BAD BH3 helix activates glucokinase by a mechanism distinct from that of allosteric activators.Nature structural & molecular biology · 2014Article
- Normal glucose metabolism in carnivores overlaps with diabetes pathology in non-carnivores.Frontiers in endocrinology · 2013Review
- Current understanding of K ATP channels in neonatal diseases: focus on insulin secretion disorders.Acta pharmacologica Sinica · 2011Review
- Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.The Journal of biological chemistry · 2011Article
- Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus.Reviews in endocrine & metabolic disorders · 2010Review
Corrections and comments
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Authors and funding
17 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glucokinase is essential for glucose-stimulated insulin release from the pancreatic beta-cell, serving as glucose sensor in humans. Inactivating or activating mutations of glucokinase lead to different forms of glucokinase disease, i.e. GCK-monogenic diabetes of youth, permanent neonatal diabetes (inactivating mutations), and congenital hyperinsulinism, respectively. Here we present a novel glucokinase gene (GCK)-activating mutation (p.E442K) found in an infant with neonatal hypoglycemia (1.5 mmol/liter) and in two other family members suffering from recurrent hypoglycemic episodes in their childhood and adult life. In contrast to the severe clinical presentation in the index case, functional studies showed only a slight activation of the protein (relative activity index of 3.3). We also report on functional studies of two inactivating mutations of the GCK (p.E440G and p.S441W), contiguous to the activating one, that lead to monogenic diabetes of youth. Interestingly, adult family members carrying the GCK pE440G mutation show an unusually heterogeneous and progressive diabetic phenotype, a feature not typical of GCK-monogenic diabetes of youth. In summary, we identified a novel activating GCK mutation that although being associated with severe neonatal hypoglycemia is characterized by the mildest activation of the glucokinase enzyme of all previously reported.
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