Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.

ATP-sensitive potassium (K(ATP)) channels, composed of pore-forming Kir6.2 and regulatory sulphonylurea receptor (SUR) subunits, play an essential role in insulin secretion from pancreatic beta cells. Binding of ATP to Kir6.2 inhibits, whereas interaction of Mg-nucleotides with SUR, activates the ch...

書目詳細資料
Main Authors:	Girard, C, Shimomura, K, Proks, P, Absalom, N, Castano, L, Perez de Nanclares, G, Ashcroft, F
格式:	Journal article
語言:	English
出版:	2006

相似書籍

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
由: Shimomura, K, et al.
出版: (2006)

Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.
由: Proks, P, et al.
出版: (2006)

An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.
由: Craig, T, et al.
出版: (2009)

The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): a major ATP-binding residue.
由: Shimomura, K, et al.
出版: (2010)

Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.
由: Tarasov, A, et al.
出版: (2007)

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

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.
由: Proks, P, et al.
出版: (2005)

Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.
由: Tammaro, P, et al.
出版: (2005)

Molecular basis of Kir6.2 mutations causing neonatal diabetes and neonatal diabetes with neurological features
由: Proks, P, et al.
出版: (2005)

Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels.
由: Tammaro, P, et al.
出版: (2006)

A mouse model of neonatal diabetes caused by the K-ATP channel mutation Kir6.2-V59M
由: Girard, C, et al.
出版: (2008)

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
由: Sagen, J, et al.
出版: (2004)

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
由: Proks, P, et al.
出版: (2004)

Effects of mitiglinide (S 21403) on Kir6.2/SUR1, Kir6.2/SUR2A and Kir6.2/SUR2B types of ATP-sensitive potassium channel.
由: Reimann, F, et al.
出版: (2001)

Permanent neonatal diabetes caused by an in-frame deletion in the N-terminus of Kir6.2
由: Craig, T, et al.
出版: (2008)

Phentolamine block of KATP channels is mediated by Kir6.2.
由: Proks, P, et al.
出版: (1997)

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.
由: Proks, P, et al.
出版: (2005)

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
由: Shimomura, K, et al.
出版: (2009)

The extent of K-ATP channel block by MgATP correlates with the clinical phenotype caused by gain-of-function KCNJ11 mutations
由: Proks, R, et al.
出版: (2005)

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.
由: Flanagan, SE, et al.
出版: (2006)

Neonatal diabetes caused by homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensititvity markedly affect diabetes risk
由: Vedovato, N, et al.
出版: (2016)

Involvement of the n-terminus of Kir6.2 in coupling to the sulphonylurea receptor.
由: Reimann, F, et al.
出版: (1999)

The N-terminus of Kir6.2 is involved in coupling to SUR1
由: Reimann, F, et al.
出版: (1999)

Mutations within the P-loop of Kir6.2 modulate the intraburst kinetics of the ATP-sensitive potassium channel.
由: Proks, P, et al.
出版: (2001)

Glimepiride block of Kir6.2/SUR1 Kir6.2/SUR2A and Kir6.2/SUR2A and Kir6.2/SUR2B K-ATP channels.
由: Ashcroft, F, et al.
出版: (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.
由: Gloyn, A, et al.
出版: (2004)

Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes.
由: Girard, C, et al.
出版: (2009)

Involvement of the N-terminus of Kir6.2 in the inhibition of the KATP channel by ATP.
由: Proks, P, et al.
出版: (1999)

The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation
由: O'Connell, S, et al.
出版: (2015)

Focus on Kir6.2: a key component of the ATP-sensitive potassium channel.
由: Haider, S, et al.
出版: (2005)

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
由: Männikkö, R, et al.
出版: (2010)

Filter flexibility in a mammalian K channel: models and simulations of Kir6.2 mutants.
由: Capener, C, et al.
出版: (2003)

A novel mutation KCNJ11 R136C caused KCNJ11-MODY
由: Yaning Chen, et al.
出版: (2021-08-01)

Relapsing diabetes can result from moderately activating mutations in KCNJ11.
由: Gloyn, A, et al.
出版: (2005)

A mutation in KCNJ11 causing human hyperinsulinism (Y12X) results in a glucose-intolerant phenotype in the mouse.
由: Hugill, A, et al.
出版: (2010)

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
由: Hattersley, A, et al.
出版: (2005)

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
由: Gloyn, A, et al.
出版: (2006)

A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.
由: Tammaro, P, et al.
出版: (2008)

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

Structure-function studies of the fast gating kinetics of the cloned ATP-sensitive potassium channel, Kir6.2/SUR1
由: Proks, P, et al.
出版: (2001)