ArticlePloS one2012
Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25 citing papers in PubMed, 46 citations in OpenAlex.
- Bridging pancreatic and hepatic development: overlapping genes and their role in diabetes.Cellular & molecular biology letters · 2025Review
- Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.medRxiv : the preprint server for health sciences · 2025Article
- Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.Cellular & molecular biology letters · 2024Review
- Analysis of Corneal Deformation in Paediatric Patients Affected by Maturity Onset Diabetes of the Young Type 2.Diagnostics (Basel, Switzerland) · 2023Article
- The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy.Medicina (Kaunas, Lithuania) · 2023Article
- Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.Journal of personalized medicine · 2022Review
- A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.Life (Basel, Switzerland) · 2021Article
- NGS Analysis Revealed Digenic HeterozygousDiagnostics (Basel, Switzerland) · 2021Article
- Recognition of maturity-onset diabetes of the young in China.Journal of diabetes investigation · 2021Article
- Cystic Fibrosis-Related Diabetes (CFRD): Overview of Associated Genetic Factors.Diagnostics (Basel, Switzerland) · 2021Review
- The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.Journal of personalized medicine · 2021Article
- The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY).Clinical diabetes and endocrinology · 2020Review
- MODY probability calculator for GCK and HNF1A screening in a multiethnic background population.Archives of endocrinology and metabolism · 2020Observational
- How Heterogeneity in Glucokinase and Gap-Junction Coupling Determines the Islet [CaBiophysical journal · 2019Article
- Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing.Endocrinology and metabolism (Seoul, Korea) · 2017Article
- Solution NMR Spectroscopy for the Study of Enzyme Allostery.Chemical reviews · 2016Review
- Undiagnosed MODY: Time for Action.Current diabetes reports · 2015Review
- Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.Molecular genetics and metabolism · 2015Article
- A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins.Diabetology & metabolic syndrome · 2015Article
- Quantum coupled mutation finder: predicting functionally or structurally important sites in proteins using quantum Jensen-Shannon divergence and CUDA programming.BMC bioinformatics · 2014Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Type 2 Maturity Onset Diabetes of the Young (MODY2) is a monogenic autosomal disease characterized by a primary defect in insulin secretion and hyperglycemia. It results from GCK gene mutations that impair enzyme activity. Between 2006 and 2010, we investigated GCK mutations in 66 diabetic children from southern Italy with suspected MODY2. Denaturing High Performance Liquid Chromatography (DHPLC) and sequence analysis revealed 19 GCK mutations in 28 children, six of which were novel: p.Glu40Asp, p.Val154Leu, p.Arg447Glyfs, p.Lys458_Cys461del, p.Glu395_Arg397del and c.580-2A>T. We evaluated the effect of these 19 mutations using bioinformatic tools such as Polymorphism Phenotyping (Polyphen), Sorting Intolerant From Tolerant (SIFT) and in silico modelling. We also conducted a functional study to evaluate the pathogenic significance of seven mutations that are among the most severe mutations found in our population, and have never been characterized: p.Glu70Asp, p.His137Asp, p.Phe150Tyr, p.Val154Leu, p.Gly162Asp, p.Arg303Trp and p.Arg392Ser. These seven mutations, by altering one or more kinetic parameters, reduced enzyme catalytic activity by >40%. All mutations except p.Glu70Asp displayed thermal-instability, indeed >50% of enzyme activity was lost at 50°C/30 min. Thus, these seven mutations play a pathogenic role in MODY2 insurgence. In conclusion, this report revealed six novel GCK mutations and sheds some light on the structure-function relationship of human GCK mutations and MODY2.
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