Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.

Closure of ATP-sensitive K(+) channels (K(ATP) channels) in response to metabolically generated ATP or binding of sulfonylurea drugs stimulates insulin release from pancreatic beta-cells. Heterozygous gain-of-function mutations in the KCJN11 gene encoding the Kir6.2 subunit of this channel are found...

Полное описание

Библиографические подробности
Главные авторы:	Hattersley, A, Ashcroft, F
Формат:	Journal article
Язык:	English
Опубликовано:	2005

Схожие документы

Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.
по: Tammaro, P, и др.
Опубликовано: (2005)

Molecular basis of Kir6.2 mutations causing neonatal diabetes and neonatal diabetes with neurological features
по: Proks, P, и др.
Опубликовано: (2005)

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
по: Proks, P, и др.
Опубликовано: (2004)

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
по: Männikkö, R, и др.
Опубликовано: (2010)

Permanent neonatal diabetes caused by an in-frame deletion in the N-terminus of Kir6.2
по: Craig, T, и др.
Опубликовано: (2008)

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
по: Shimomura, K, и др.
Опубликовано: (2009)

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.
по: Proks, P, и др.
Опубликовано: (2005)

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.
по: Girard, C, и др.
Опубликовано: (2006)

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

A Kir6.2 mutation causing neonatal diabetes impairs electrical activity and insulin secretion from INS-1 beta-cells.
по: Tarasov, A, и др.
Опубликовано: (2006)

The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation
по: O'Connell, S, и др.
Опубликовано: (2015)

Glimepiride block of Kir6.2/SUR1 Kir6.2/SUR2A and Kir6.2/SUR2A and Kir6.2/SUR2B K-ATP channels.
по: Ashcroft, F, и др.
Опубликовано: (2001)

A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.
по: Tammaro, P, и др.
Опубликовано: (2008)

An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.
по: Craig, T, и др.
Опубликовано: (2009)

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
по: Shimomura, K, и др.
Опубликовано: (2006)

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
по: Gloyn, A, и др.
Опубликовано: (2004)

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
по: Vaxillaire, M, и др.
Опубликовано: (2004)

Neonatal diabetes - The role of KCNJ11 (Kir6.2)
по: Tammaro, P
Опубликовано: (2007)

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
по: Pearson, E, и др.
Опубликовано: (2006)

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
по: Sagen, J, и др.
Опубликовано: (2004)

Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.
по: Proks, P, и др.
Опубликовано: (2006)

Effects of mitiglinide (S 21403) on Kir6.2/SUR1, Kir6.2/SUR2A and Kir6.2/SUR2B types of ATP-sensitive potassium channel.
по: Reimann, F, и др.
Опубликовано: (2001)

Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.
по: Tarasov, A, и др.
Опубликовано: (2007)

Time-dependent activation of Kir6.2/SUR2A channels but not Kir6.2/SUR1 channels in the presence of ATP
по: Ashcroft, F, и др.
Опубликовано: (2001)

A mouse model of neonatal diabetes caused by the K-ATP channel mutation Kir6.2-V59M
по: Girard, C, и др.
Опубликовано: (2008)

Time-dependent activation of KIR6.2/SUR2A channels but not KIR6.2/SUR1 channels in the presence of MgATP
по: Song, D, и др.
Опубликовано: (2001)

Phentolamine block of KATP channels is mediated by Kir6.2.
по: Proks, P, и др.
Опубликовано: (1997)

Mapping the architecture of the ATP-binding site of Kir6.2
по: Dabrowski, M, и др.
Опубликовано: (2002)

Screening for mutations in the Kir6.2 subunit of the beta-cell K-ATP channel
по: Sakura, H, и др.
Опубликовано: (1996)

Quantitative traits associated with the Type 2 diabetes susceptibility allele in Kir6.2.
по: Weedon, M, и др.
Опубликовано: (2003)

Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes.
по: Girard, C, и др.
Опубликовано: (2009)

Involvement of the n-terminus of Kir6.2 in coupling to the sulphonylurea receptor.
по: Reimann, F, и др.
Опубликовано: (1999)

The N-terminus of Kir6.2 is involved in coupling to SUR1
по: Reimann, F, и др.
Опубликовано: (1999)

Identification of residues contributing to the ATP binding site of Kir6.2.
по: Trapp, S, и др.
Опубликовано: (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.
по: Flanagan, SE, и др.
Опубликовано: (2006)

Mutations within the P-loop of Kir6.2 modulate the intraburst kinetics of the ATP-sensitive potassium channel.
по: Proks, P, и др.
Опубликовано: (2001)

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
по: Gloyn, A, и др.
Опубликовано: (2004)

Involvement of the N-terminus of Kir6.2 in the inhibition of the KATP channel by ATP.
по: Proks, P, и др.
Опубликовано: (1999)

Mapping the architecture of the ATP-binding site of the KATP channel subunit Kir6.2.
по: Dabrowski, M, и др.
Опубликовано: (2004)

A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.
по: Tammaro, P, и др.
Опубликовано: (2007)