ArticlePediatric diabetes2019
Functional characterization of activating mutations in the sulfonylurea receptor 1 (ABCC8) causing neonatal diabetes mellitus in Asian Indian children.
Article in Pediatric diabetes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 19 citations in OpenAlex.
- Integrated Genomic Analysis Reveals the Synergistic Role of PNPLA3 and ABCC8 Variants in Diabetic MASLD in Pakistan.Medical sciences (Basel, Switzerland) · 2025Article
- Transient diabetes mellitus with ABCC8 variant successfully treated with sulfonylurea: Two case reports and review of literature.World journal of diabetes · 2024Article
- A novel stop-loss mutation in NKX2-2 gene as a cause of neonatal diabetes mellitus: molecular characterization and structural analysis.Acta diabetologica · 2024Article
- Association of ABCC8 gene variants with response to sulfonylurea in type 2 diabetes mellitus.Journal of diabetes and metabolic disorders · 2023Article
- Structural Insights into ATP-Sensitive Potassium Channel Mechanics: A Role of Intrinsically Disordered Regions.Journal of chemical information and modeling · 2023Article
- Functional Regulation of KFrontiers in pharmacology · 2022Review
- Beta-Cell Ion Channels and Their Role in Regulating Insulin Secretion.Comprehensive Physiology · 2021Review
- Neonatal Diabetes Mellitus: Novel Mutations.Indian journal of pediatrics · 2021Article
- Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation.Frontiers in endocrinology · 2021Review
- Clinical features and partial proportional molecular genetics in neonatal diabetes mellitus: a retrospective analysis in southwestern China.Endocrine · 2020Article
- New insights into KNature reviews. Endocrinology · 2020Review
- Ion Channels of the Islets in Type 2 Diabetes.Journal of molecular biology · 2020Review
- Leptin-induced Trafficking of KInternational journal of molecular sciences · 2019Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundGain-of-function of ATP-sensitive K
methodsWild-type (WT; NM_000352.4) or mutant sulfonylurea receptor 1 (SUR1) and Kir6.2 were co-expressed in COSm6 cells. Biogenesis efficiency and surface expression of mutant channels were assessed by immunoblotting and immunostaining. The response of mutant channels to cytoplasmic ATP and ADP was assessed by inside-out patch-clamp recordings. The response of mutant channels to known K
resultsFive SUR1 missense mutations, D212Y, P254S, R653Q, R992C, and Q1224H, were studied and showed increased activity in MgATP/MgADP. Two of the mutants, D212Y and P254S, also showed reduced response to ATP
conclusionsThe study shows the mechanisms by which five SUR1 mutations identified in Asian Indian NDM patients affect K
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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.