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

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

Inwardly rectifying potassium (Kir) channels control cell membrane K+ fluxes and electrical signalling in diverse cell types. Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive (K(ATP)) channel, cause permanent neonatal diabetes mellitus. However,...

Podrobná bibliografie
Hlavní autoři:	Proks, P, Girard, C, Haider, S, Gloyn, A, Hattersley, A, Sansom, MS, Ashcroft, F
Médium:	Journal article
Jazyk:	English
Vydáno:	2005

Podobné jednotky

Molecular basis of Kir6.2 mutations causing neonatal diabetes and neonatal diabetes with neurological features
Autor: Proks, P, a další
Vydáno: (2005)

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
Autor: Proks, P, a další
Vydáno: (2004)

Focus on Kir6.2: a key component of the ATP-sensitive potassium channel.
Autor: Haider, S, a další
Vydáno: (2005)

Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit.
Autor: Antcliff, J, a další
Vydáno: (2005)

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
Autor: Shimomura, K, a další
Vydáno: (2009)

Filter flexibility in a mammalian K channel: models and simulations of Kir6.2 mutants.
Autor: Capener, C, a další
Vydáno: (2003)

Effects of mitiglinide (S 21403) on Kir6.2/SUR1, Kir6.2/SUR2A and Kir6.2/SUR2B types of ATP-sensitive potassium channel.
Autor: Reimann, F, a další
Vydáno: (2001)

Identification of residues contributing to the ATP binding site of Kir6.2.
Autor: Trapp, S, a další
Vydáno: (2003)

Phentolamine block of KATP channels is mediated by Kir6.2.
Autor: Proks, P, a další
Vydáno: (1997)

Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.
Autor: Tammaro, P, a další
Vydáno: (2005)

A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.
Autor: Männikkö, R, a další
Vydáno: (2011)

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.
Autor: Girard, C, a další
Vydáno: (2006)

Structure-function studies of the fast gating kinetics of the cloned ATP-sensitive potassium channel, Kir6.2/SUR1
Autor: Proks, P, a další
Vydáno: (2001)

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
Autor: Hattersley, A, a další
Vydáno: (2005)

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
Autor: Shimomura, K, a další
Vydáno: (2006)

Involvement of the n-terminus of Kir6.2 in coupling to the sulphonylurea receptor.
Autor: Reimann, F, a další
Vydáno: (1999)

The N-terminus of Kir6.2 is involved in coupling to SUR1
Autor: Reimann, F, a další
Vydáno: (1999)

Mutations within the P-loop of Kir6.2 modulate the intraburst kinetics of the ATP-sensitive potassium channel.
Autor: Proks, P, a další
Vydáno: (2001)

Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.
Autor: Proks, P, a další
Vydáno: (2006)

Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.
Autor: Proks, P, a další
Vydáno: (2007)

Identification of the PIP2-binding site on Kir6.2 by molecular modelling and functional analysis.
Autor: Haider, S, a další
Vydáno: (2007)

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
Autor: Männikkö, R, a další
Vydáno: (2010)

The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation
Autor: O'Connell, S, a další
Vydáno: (2015)

Glimepiride block of Kir6.2/SUR1 Kir6.2/SUR2A and Kir6.2/SUR2A and Kir6.2/SUR2B K-ATP channels.
Autor: Ashcroft, F, a další
Vydáno: (2001)

Involvement of the N-terminus of Kir6.2 in the inhibition of the KATP channel by ATP.
Autor: Proks, P, a další
Vydáno: (1999)

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
Autor: Gloyn, A, a další
Vydáno: (2004)

Permanent neonatal diabetes caused by an in-frame deletion in the N-terminus of Kir6.2
Autor: Craig, T, a další
Vydáno: (2008)

Quantitative traits associated with the Type 2 diabetes susceptibility allele in Kir6.2.
Autor: Weedon, M, a další
Vydáno: (2003)

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
Autor: Flanagan, SE, a další
Vydáno: (2006)

The extent of K-ATP channel block by MgATP correlates with the clinical phenotype caused by gain-of-function KCNJ11 mutations
Autor: Proks, R, a další
Vydáno: (2005)

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
Autor: Vaxillaire, M, a další
Vydáno: (2004)

A mouse model of neonatal diabetes caused by the K-ATP channel mutation Kir6.2-V59M
Autor: Girard, C, a další
Vydáno: (2008)

Development of IKATP Ion Channel Blockers Targeting Sulfonylurea Resistant Mutant KIR6.2 Based Channels for Treating DEND Syndrome
Autor: Marien J. C. Houtman, a další
Vydáno: (2022-01-01)

Time-dependent activation of Kir6.2/SUR2A channels but not Kir6.2/SUR1 channels in the presence of ATP
Autor: Ashcroft, F, a další
Vydáno: (2001)

A Kir6.2 mutation causing neonatal diabetes impairs electrical activity and insulin secretion from INS-1 beta-cells.
Autor: Tarasov, A, a další
Vydáno: (2006)

Direct photoaffinity labeling of Kir6.2 by [gamma-(32)P]ATP-[gamma]4-azidoanilide.
Autor: Tanabe, K, a další
Vydáno: (2000)

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
Autor: Pearson, E, a další
Vydáno: (2006)

Screening for mutations in the Kir6.2 subunit of the beta-cell K-ATP channel
Autor: Sakura, H, a další
Vydáno: (1996)

Time-dependent activation of KIR6.2/SUR2A channels but not KIR6.2/SUR1 channels in the presence of MgATP
Autor: Song, D, a další
Vydáno: (2001)

Mapping the architecture of the ATP-binding site of Kir6.2
Autor: Dabrowski, M, a další
Vydáno: (2002)