Associated Papers
AI-based discovery and cryoEM structural elucidation of a KATP channel pharmacochaperone.
Elsheikh A et al.
Elife, 2025
AI-Based Discovery and CryoEM Structural Elucidation of a KATP Channel Pharmacochaperone.
ElSheikh A et al.
Biorxiv : the Preprint Server for Biology, 2025
KATP channel mutations in congenital hyperinsulinism: Progress and challenges towards mechanism-based therapies.
ElSheikh A et al.
Frontiers in Endocrinology, 2023
A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes.
Gaál Z et al.
Life (basel, Switzerland), 2021
Pharmacological chaperones of ATP-sensitive potassium channels: Mechanistic insight from cryoEM structures.
Martin GM et al.
Molecular and Cellular Endocrinology, 2020
Targeted pharmacotherapies for defective ABC transporters.
Vauthier V et al.
Biochemical Pharmacology, 2017
KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment.
Song J et al.
Bmc Medical Genetics, 2017
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
5'-adenosine monophosphate mediated cooling treatment enhances ΔF508-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) stability in vivo.
Zhang Y et al.
Journal of Biomedical Science, 2015
Structurally distinct ligands rescue biogenesis defects of the KATP channel complex via a converging mechanism.
Devaraneni PK et al.
The Journal of Biological Chemistry, 2015
Ibuprofen rescues mutant cystic fibrosis transmembrane conductance regulator trafficking.
Carlile GW et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2015
Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels.
Martin GM et al.
Frontiers in Physiology, 2013
Carbamazepine as a novel small molecule corrector of trafficking-impaired ATP-sensitive potassium channels identified in congenital hyperinsulinism.
Chen PC et al.
The Journal of Biological Chemistry, 2013
Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines.
Sampson HM et al.
Orphanet Journal of Rare Diseases, 2013
Effects of single nucleotide polymorphisms in K(ATP) channel genes on type 2 diabetes in a Turkish population.
Gonen MS et al.
Archives of Medical Research, 2012
Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels.
Wang F et al.
The Journal of Biological Chemistry, 2012
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Role of Hsp90 in biogenesis of the beta-cell ATP-sensitive potassium channel complex.
Yan FF et al.
Molecular Biology of the Cell, 2010
ATP-sensitive potassium channels in health and disease.
Clark R et al.
Advances in Experimental Medicine and Biology, 2010
The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes.
Lang V et al.
Pharmacogenomics and Personalized Medicine, 2010
Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure.
Pratt EB et al.
The Journal of Biological Chemistry, 2009
An overview of trafficking and assembly of neurotransmitter receptors and ion channels (Review).
Schwappach B
Molecular Membrane Biology, 2008
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.
Yan FF et al.
Diabetes, 2007
Sulfonylureas correct trafficking defects of disease-causing ATP-sensitive potassium channels by binding to the channel complex.
Yan FF et al.
The Journal of Biological Chemistry, 2006
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
Proks P et al.
Human Molecular Genetics, 2006
Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Gloyn AL et al.
Human Mutation, 2006
Insight in eukaryotic ABC transporter function by mutation analysis.
Frelet A et al.
Febs Letters, 2006
Role of ubiquitin-proteasome degradation pathway in biogenesis efficiency of {beta}-cell ATP-sensitive potassium channels.
Yan FF et al.
American Journal of Physiology. Cell Physiology, 2005
Low temperature completely rescues the function of two misfolded K ATP channel disease-mutants.
Yang K et al.
Febs Letters, 2005
Function and distribution of the SUR isoforms and splice variants.
Shi NQ et al.
Journal of Molecular and Cellular Cardiology, 2005
Pas de deux in groups of four--the biogenesis of KATP channels.
Neagoe I et al.
Journal of Molecular and Cellular Cardiology, 2005
Sulfonylureas correct trafficking defects of ATP-sensitive potassium channels caused by mutations in the sulfonylurea receptor.
Yan F et al.
The Journal of Biological Chemistry, 2004
N-terminal transmembrane domain of the SUR controls trafficking and gating of Kir6 channel subunits.
Chan KW et al.
The Embo Journal, 2003
Molecular biology of adenosine triphosphate-sensitive potassium channels.
Aguilar-Bryan L et al.
Endocrine Reviews, 1999
Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.
Greer RM et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
Regulation of KATP channel expression and activity by the SUR1 nucleotide binding fold 1.
Masia R et al.
Channels (austin, Tex.), 0
Engineered Kir6.2 mutations that correct the trafficking defect of K(ATP) channels caused by specific SUR1 mutations.
Zhou Q et al.
Channels (austin, Tex.), 0