A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome

No abstract is available for this paper.

• Publication year

  2005

• Venue

  EMBO Reports

• Publication date

  2005-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/sj.embor.7400393PMID 15864298PMCID PMC1299303
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Cytoplasmic domain structures of Kir2.1 and Kir3.1 show sites for modulating gating and rectification

  2005cited by this paper
• Functional analysis of a structural model of the ATP‐binding site of the KATP channel Kir6.2 subunit

  2005influential reference
• KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes

  2005cited by this paper
• Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.

  2004cited by this paper
• Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

  2004influential reference
• Type 2 diabetes mellitus: not quite exciting enough?

  2004cited by this paper
• Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.

  2004influential reference
• Identification of residues contributing to the ATP binding site of Kir6.2

  2003cited by this paper
• Physiological and pathophysiological roles of ATP-sensitive K+ channels.

  2003cited by this paper
• Crystal Structure of the Potassium Channel KirBac1.1 in the Closed State

  2003cited by this paper
• Structural basis of inward rectification: cytoplasmic pore of the G protein-gated inward rectifier GIRK1 at 1.8 A resolution.

  2002cited by this paper
• Phospholipids as modulators of K(ATP) channels: distinct mechanisms for control of sensitivity to sulphonylureas, K(+) channel openers, and ATP.

  2001cited by this paper
• ATP interaction with the open state of the K(ATP) channel.

  2001cited by this paper
• ATP4- mediates closure of pancreatic beta-cell ATP-sensitive potassium channels by interaction with 1 of 4 identical sites.

  2000cited by this paper
• A Novel Method for Measurement of Submembrane ATP Concentration*

  2000cited by this paper
• Phosphoinositides Decrease Atp Sensitivity of the Cardiac Atp-Sensitive K+ Channel

  1999cited by this paper
• Membrane phospholipid control of nucleotide sensitivity of KATP channels.

  1998influential reference
• Correlating structure and function in ATP-sensitive K+ channels.

  1998cited by this paper
• Molecular Analysis of ATP-sensitive K Channel Gating and Implications for Channel Inhibition by ATP

  1998cited by this paper
• MgATP activates the beta cell KATP channel by interaction with its SUR1 subunit.

  1998cited by this paper
• Multiple sequence alignment with Clustal X.

  1998cited by this paper
• The essential role of the Walker A motifs of SUR1 in K‐ATP channel activation by Mg‐ADP and diazoxide

  1997influential reference
• Octameric Stoichiometry of the KATP Channel Complex

  1997cited by this paper
• Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor

  1997influential reference
• VMD: visual molecular dynamics.

  1996cited by this paper
• Automated docking of flexible ligands: Applications of autodock

  1996influential reference
• Adenosine Diphosphate as an Intracellular Regulator of Insulin Secretion

  1996influential reference
• Comparative protein modelling by satisfaction of spatial restraints.

  1993cited by this paper
• PROCHECK: a program to check the stereochemical quality of protein structures

  1993cited by this paper
• Glucose induces closure of single potassium channels in isolated rat pancreatic β-cells

  1984cited by this paper

• Structure based analysis of KATP channel with a DEND syndrome mutation in murine skeletal muscle

  2021cites this paper
• Simulating PIP2-Induced Gating Transitions in Kir6.2 Channels

  2021cites this paper
• Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review

  2021cites this paper
• Structural Determinants of Insulin Release: Disordered N-Terminal Tail of Kir6.2 Affects Potassium Channel Dynamics through Interactions with Sulfonylurea Binding Region in a SUR1 Partner

  2020cites this paper
• Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey

  2020cites this paper
• Neonatal diabetes due to potassium channel mutation: response to sulfonylurea according to the genotype.

  2020cites this paper
• New insights into KATP channel gene mutations and neonatal diabetes mellitus

  2020cites this paper
• Neonatal Diabetes Mellitus : Clinical and Genetic Approach

  2018cites this paper
• From in silico to in vitro: a trip to reveal flavonoid binding on the Rattus norvegicus Kir6.1 ATP-sensitive inward rectifier potassium channel

  2018influential citation
• Precision medicine in type 2 diabetes

  2018cites this paper
• PROLAZNI NEONATALNI DIJABETES UZROKOVAN NOVOM AKTIVIRAJUĆOM MUTACIJOM KCNJ11-GENA I USPJEŠNO PREVOĐENJE NA TERAPIJU SULFONILUREJOM

  2017cites this paper
• Channel Mutations and Neonatal Diabetes Kenju Shimomura and

  2017cites this paper
• KATP Channel Mutations and Neonatal Diabetes

  2017cites this paper
• KATP Channels in the Pancreas

  2016cites this paper
• L225P Mutation of ABCC8 Gene: A Case of Transient Neonatal Diabetes Mellitus with Thrombophilic Predisposition and Epilepsy

  2016cites this paper
• Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk

  2016cites this paper
• Molecular studies of ATP-sensitive potassium channels : gating, pathology, and optogenetics

  2016influential citation
• Molecular action of sulphonylureas on KATP channels: a real partnership between drugs and nucleotides

  2015cites this paper
• Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China

  2015cites this paper
• Structural Insights into GIRK Channel Function.

  2015cites this paper
• Phosphoinositide control of membrane protein function: a frontier led by studies on ion channels.

  2015cites this paper
• ATP-sensitive potassium channels in health and disease

  2015cites this paper
• Functional Consequences of Cantu Syndrome Associated Mutations in the ATP Sensitive Potassium Channel

  2015cites this paper
• Sulfonylureas suppress the stimulatory action of Mg-nucleotides on Kir6.2/SUR1 but not Kir6.2/SUR2A KATP channels: A mechanistic study

  2014cites this paper
• Functional and Modeling Studies of the Transmembrane Region of the TRPM8 Channel.

  2014cites this paper
• 7 Literatur

  2014cites this paper
• Identifying subtypes of monogenic diabetes

  2014cites this paper
• Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels

  2013cites this paper
• A Kir6.2 Pore Mutation Causes Inactivation of ATP-Sensitive Potassium Channels by Disrupting PIP2-Dependent Gating

  2013influential citation
• Développement de la technologie des récepteurs couplés à un canal ionique pour des études structure-fonction des récepteurs couplés aux protéines G et du canal Kir6.2

  2013cites this paper
• Molecular Mechanism of Sulphonylurea Block of KATP Channels Carrying Mutations That Impair ATP Inhibition and Cause Neonatal Diabetes

  2013cites this paper
• Neonatal Diabetes and Hyperinsulinemia: The Indian experience

  2013cites this paper
• Disorders of Carbohydrate Metabolism

  2012cites this paper
• Molecular determinants of different gating mechanisms in inwardly-rectifying potassium channels

  2012cites this paper
• Channeling dysglycemia: ion-channel variations perturbing glucose homeostasis.

  2012influential citation
• Pharmacogenomics and Organ Transplantation

  2012cites this paper
• Study of a glycine hinge in ATP-sensitive potassium channels

  2012cites this paper
• Measuring and evaluating the role of ATP-sensitive K+ channels in cardiac muscle.

  2012cites this paper
• Current understanding of KATP channels in neonatal diseases: focus on insulin secretion disorders

  2011cites this paper
• Forced Gating Motions by a Substituted Titratable Side Chain at the Bundle Crossing of a Potassium Channel*

  2011cites this paper
• Genetically Programmed Defects in β-Cell Function

  2011cites this paper
• KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients

  2011cites this paper
• Structure of a KirBac potassium channel with an open bundle-crossing indicates a mechanism of channel gating

  2011cites this paper
• Inwardly rectifying potassium channels: their structure, function, and physiological roles.

  2010cites this paper
• The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes

  2010influential citation
• KCNJ11 activating mutation in an Indian family with remitting and relapsing diabetes

  2010cites this paper
• Neonatal hyperglycaemia: a challenging diagnosis

  2010cites this paper
• Activation of the KATP channel by Mg-nucleotide interaction with SUR1

  2010influential citation
• Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

  2010cites this paper
• ATP-sensitive potassium channels in health and disease.

  2010cites this paper
• Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11

  2010cites this paper
• Update in neonatal diabetes

  2010cites this paper
• The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): a major ATP‐binding residue

  2010cites this paper
• The K(ATP) channel and neonatal diabetes.

  2009cites this paper
• Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism

  2009influential citation
• Modeling K(ATP) channel gating and its regulation.

  2009cites this paper
• 長期経過を観察したdevelopmental delay, epilepsy and neonatal diabetes (DEND) 症候群の1例

  2009cites this paper
• An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.

  2009influential citation
• Mutações Genéticas Relacionadas com o Diabetes Melito Neonatal

  2009cites this paper
• Update of mutations in the genes encoding the pancreatic beta‐cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

  2009cites this paper
• A cytosolic factor that inhibits KATP channels expressed in Xenopus oocytes by impairing Mg‐nucleotide activation by SUR1

  2009influential citation
• A comprehensive guide to the ROMK potassium channel: form and function in health and disease.

  2009cites this paper
• Secondary consequences of beta cell inexcitability: identification and prevention in a murine model of K(ATP)-induced neonatal diabetes mellitus.

  2009cites this paper
• Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase.

  2008cites this paper
• Monogenic β-cell dysfunction in children: clinical phenotypes, genetic etiology and mutational pathways

  2008cites this paper
• Neonatal diabetes mellitus.

  2008cites this paper
• KATP Channel Pharmacogenomics: From Bench to Bedside

  2008cites this paper
• Molecular Aetiologies of Hyperinsulinism of Infancy

  2008cites this paper
• Improved sub-µs gating analysis indicates conformational changes as caused by ion/pore interactions in the MaxiK channel

  2008influential citation
• A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications

  2008cites this paper
• [Neonatal diabetes mellitus].

  2008cites this paper
• Diagnosis of neonatal and infancy-onset diabetes.

  2007cites this paper
• The Walter B. Cannon Physiology in Perspective Lecture, 2007. ATP-sensitive K+ channels and disease: from molecule to malady.

  2007cites this paper
• Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

  2007cites this paper
• Infantile Spasms as an Epileptic Feature of DEND Syndrome Associated With an Activating Mutation in the Potassium Adenosine Triphosphate (ATP) Channel, Kir6.2

  2007cites this paper
• A novel mutation causing DEND syndrome

  2007cites this paper
• Neonatal diabetes.

  2007cites this paper
• Molecular basis of neonatal diabetes in Japanese patients.

  2007cites this paper
• Monogenic disorders of the pancreatic β-cell: personalizing treatment for rare forms of diabetes and hypoglycemia.

  2007cites this paper
• A mutation in the ATP‐binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit

  2007influential citation
• Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes

  2007cites this paper
• Crystal structure of a Kir3.1‐prokaryotic Kir channel chimera

  2007cites this paper
• Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.

  2007cites this paper
• An ATP-Binding Mutation (G334D) in KCNJ11 Is Associated With a Sulfonylurea-Insensitive Form of Developmental Delay, Epilepsy, and Neonatal Diabetes

  2007cites this paper
• Saturation and Microsecond Gating of Current Indicate Depletion-induced Instability of the MaxiK Selectivity Filter

  2007influential citation
• An Andersen-Tawil Syndrome Mutation in Kir2.1 (V302M) Alters the G-loop Cytoplasmic K+ Conduction Pathway*

  2007cites this paper
• Action potentials and insulin secretion: new insights into the role of Kv channels

  2007cites this paper
• The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

  2007cites this paper
• Molecular cell biology of KATP channels: implications for neonatal diabetes

  2007cites this paper
• Mutations in the genes encoding the pancreatic beta‐cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism

  2006cites this paper
• Structure-function analysis of pancreatic ATP-sensitive potassium channels

  2006cites this paper
• A Novel KCNJ11 Mutation Associated with Congenital Hyperinsulinism Reduces the Intrinsic Open Probability of β-Cell ATP-sensitive Potassium Channels*

  2006cites this paper
• Minireview: pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology, and genetics in diabetes.

  2006cites this paper
• Mutations at the Same Residue (R50) of Kir6.2 (KCNJ11) That Cause Neonatal Diabetes Produce Different Functional Effects

  2006cites this paper
• Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes

  2006cites this paper
• Expression of ATP-Insensitive KATP Channels in Pancreatic β-Cells Underlies a Spectrum of Diabetic Phenotypes

  2006cites this paper
• A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

  2006influential citation
• Expression of ATP-Insensitive K ATP Channels in Pancreatic -Cells Underlies a Spectrum of Diabetic

  2006cites this paper
• Defining the genetic aetiology of monogenic diabetes can improve treatment

  2006cites this paper
• Functional Effects of Mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), Causing Neonatal Diabetes, and Response to Sulfonylurea Therapy

  2006cites this paper