ArticlePflugers Archiv : European journal of physiology2006
Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.
Article in Pflugers Archiv : European journal of physiology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 60 citations in OpenAlex.
- Paradoxical Maturity-Onset Diabetes of the Young Arising From Loss-of-Function Mutations in ATP-Sensitive Potassium Channels.Diabetes · 2026Article
- Case Report: When genetic diagnosis comes late: lessons from a DEND syndrome patient successfully transitioned to sulfonylurea.Frontiers in clinical diabetes and healthcare · 2025Article
- Effect of Type-2 Diabetes Mellitus on the Expression and Function of Smooth Muscle ATP-Sensitive Potassium Channels in Human Internal Mammary Artery Grafts.Pharmaceuticals (Basel, Switzerland) · 2024Article
- Pituitary stalk interruption syndrome and liver cirrhosis associated with diabetes and an inactivatingFrontiers in endocrinology · 2023Review
- Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.Acta diabetologica · 2022Article
- A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations inLife (Basel, Switzerland) · 2021Article
- Structure based analysis of KScientific reports · 2021Article
- Repurposing New Use for Old Drug Chloroquine against Metabolic Syndrome: A Review on Animal and Human Evidence.International journal of medical sciences · 2021Review
- New insights into KNature reviews. Endocrinology · 2020Review
- Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.Current diabetes reports · 2019Review
- Cognitive, Neurological, and Behavioral Features in Adults WithDiabetes care · 2019Article
- A Novel KCNJ11 Mutation Associated with Transient Neonatal DiabetesJournal of clinical research in pediatric endocrinology · 2018Article
- KInternal medicine (Tokyo, Japan) · 2017Review
- Decreases in Gap Junction Coupling Recovers Ca2+ and Insulin Secretion in Neonatal Diabetes Mellitus, Dependent on Beta Cell Heterogeneity and Noise.PLoS computational biology · 2016Article
- Running out of time: the decline of channel activity and nucleotide activation in adenosine triphosphate-sensitive K-channels.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2016Review
- Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.Diabetologia · 2016Article
- Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes.Diabetologia · 2013Article
- Switching to sulphonylureas in children with iDEND syndrome caused by KCNJ11 mutations results in improved cerebellar perfusion.Diabetes care · 2013Article
- Article
- Detection of KCNJ11 gene mutations in a family with neonatal diabetes mellitus: implications for therapeutic management of family members with long-standing disease.Molecular diagnosis & therapy · 2012Article
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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
ATP-sensitive potassium (K(ATP)) channels, composed of pore-forming Kir6.2 and regulatory sulphonylurea receptor (SUR) subunits, play an essential role in insulin secretion from pancreatic beta cells. Binding of ATP to Kir6.2 inhibits, whereas interaction of Mg-nucleotides with SUR, activates the channel. Heterozygous activating mutations in Kir6.2 (KCNJ11) are a common cause of neonatal diabetes (ND). We assessed the functional effects of six novel Kir6.2 mutations associated with ND: H46Y, N48D, E227K, E229K, E292G, and V252A. K(ATP) channels were expressed in Xenopus oocytes and the heterozygous state was simulated by coexpression of wild-type and mutant Kir6.2 with SUR1 (the beta cell type of SUR). All mutations reduced the sensitivity of the K(ATP) channel to inhibition by MgATP, and enhanced whole-cell K(ATP) currents. Two mutations (E227K, E229K) also enhanced the intrinsic open probability of the channel, thereby indirectly reducing the channel ATP sensitivity. The other four mutations lie close to the predicted ATP-binding site and thus may affect ATP binding. In pancreatic beta cells, an increase in the K(ATP) current is expected to reduce insulin secretion and thereby cause diabetes. None of the mutations substantially affected the sensitivity of the channel to inhibition by the sulphonylurea tolbutamide, suggesting patients carrying these mutations may respond to these drugs.
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