Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue - Wikidata - awgldk - TriplyDB

Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue

Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue

http://www.wikidata.org/entity/Q36428374

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Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.Role of Hsp90 in biogenesis of the beta-cell ATP-sensitive potassium channel complex Engineered Kir6.2 mutations that correct the trafficking defect of K(ATP) channels caused by specific SUR1 mutations Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.Impact of disease-causing SUR1 mutations on the KATP channel subunit interface probed with a rhodamine protection assay.Ion channel associated diseases: overview of molecular mechanisms Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels.N-terminal transmembrane domain of SUR1 controls gating of Kir6.2 by modulating channel sensitivity to PIP2 Syntaxin 1A regulates surface expression of beta-cell ATP-sensitive potassium channels.Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1 Structurally distinct ligands rescue biogenesis defects of the KATP channel complex via a converging mechanism.Neonatal Diabetes and Congenital Hyperinsulinism Caused by Mutations in ABCC8/SUR1 are Associated with Altered and Opposite Affinities for ATP and ADP Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels.Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.Engineered interaction between SUR1 and Kir6.2 that enhances ATP sensitivity in KATP channels.Kir6.2 activation by sulfonylurea receptors: a different mechanism of action for SUR1 and SUR2A subunits via the same residues.Galactokinase deficiency in a patient with congenital hyperinsulinism Genotype and phenotype correlations in 417 children with congenital hyperinsulinism Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders The molecular mechanisms, diagnosis and management of congenital hyperinsulinism Decomposition of slide helix contributions to ATP-dependent inhibition of Kir6.2 channels An overview of trafficking and assembly of neurotransmitter receptors and ion channels (Review).Carbamazepine as a novel small molecule corrector of trafficking-impaired ATP-sensitive potassium channels identified in congenital hyperinsulinism.Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.Leptin regulates KATP channel trafficking in pancreatic β-cells by a signaling mechanism involving AMP-activated protein kinase (AMPK) and cAMP-dependent protein kinase (PKA).Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels.Cryo-EM structure of the ATP-sensitive potassium channel illuminates mechanisms of assembly and gating.Tuning the electrical properties of the heart by differential trafficking of KATP ion channel complexes.Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.The shifting landscape of KATP channelopathies and the need for 'sharper' therapeutics.Treatment strategies for acute metabolic disorders in neonates.Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure.An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression.Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.Carbamazepine inhibits ATP-sensitive potassium channel activity by disrupting channel response to MgADP.Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets.Anti-diabetic drug binding site in a mammalian KATP channel revealed by Cryo-EM.

P2860

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P2860

Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue

http://www.wikidata.org/entity/Q36428374

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2007 nî lūn-bûn

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Congenital hyperinsulinism ass ...... els: identification and rescue

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Congenital hyperinsulinism ass ...... els: identification and rescue

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Arupa Ganguly

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Courtney MacMullen

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Fei-Fei Yan

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Show-Ling Shyng

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Yu-Wen Lin

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P2860

Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy

Molecular biology of adenosine triphosphate-sensitive potassium channels

Congenital hyperinsulinism: molecular basis of a heterogeneous disease

Sur domains that associate with and gate KATP pores define a novel gatekeeper

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism

Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels.

ATP-sensitive potassium channelopathies: focus on insulin secretion

Hyperinsulinism of the newborn.

Membrane phosphoinositides control insulin secretion through their effects on ATP-sensitive K+ channel activity.

Adenosine diphosphate as an intracellular regulator of insulin secretion.

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