Neonatal diabetes - The role of KCNJ11 (Kir6.2)

Neonatal diabetes - The role of KCNJ11 (Kir6.2)

ATP-sensitive potassium (KATP) channels are inhibited by intracellular ATP and activated by MgADP. As a consequence, they couple the metabolic state of the cell to its electrical activity. In pancreatic β-cells KATP channels regulate glucose-dependent insulin secretion and are the target for sulphon...

Deskribapen osoa

Xehetasun bibliografikoak
Egile nagusia:	Tammaro, P
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2007

Antzeko izenburuak

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.
nork: Girard, C, et al.
Argitaratua: (2006)

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

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

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

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

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

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

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.
nork: Flanagan, SE, et al.
Argitaratua: (2006)

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.
nork: Gloyn, A, et al.
Argitaratua: (2004)

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

PPARG P12A,Kir6.2/KCNJ11 E23K and early growth in the Northern Finland Birth Cohort of 1966
nork: Bennett, A, et al.
Argitaratua: (2005)

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

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

Glimepiride block of Kir6.2/SUR1 Kir6.2/SUR2A and Kir6.2/SUR2A and Kir6.2/SUR2B K-ATP channels.
nork: Ashcroft, F, et al.
Argitaratua: (2001)

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

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

Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.
nork: Edghill, E, et al.
Argitaratua: (2004)

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.
nork: Gloyn, A, et al.
Argitaratua: (2003)

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

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

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.
nork: Flanagan, SE, et al.
Argitaratua: (2009)

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

Large-scale association studies of variants in genes encoding the pancreatic beta-cell K-ATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes
nork: Gloyn, A, et al.
Argitaratua: (2003)

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

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

Parametrisation of the free energy of ATP binding to wild-type and mutant Kir6.2 potassium channels.
nork: Moran, O, et al.
Argitaratua: (2013)

Genetic Variations in the Kir6.2 Subunit (KCNJ11) of Pancreatic ATP-Sensitive Potassium Channel Gene Are Associated with Insulin Response to Glucose Loading and Early Onset of Type 2 Diabetes in Childhood and Adolescence in Taiwan
nork: Yi-Der Jiang, et al.
Argitaratua: (2014-01-01)

A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.
nork: Tammaro, P, et al.
Argitaratua: (2007)

The Kir6.2-F333I mutation differentially modulates KATP channels composed of SUR1 or SUR2 subunits.
nork: Tammaro, P, et al.
Argitaratua: (2007)

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
nork: Vaxillaire, M, et al.
Argitaratua: (2004)

Time-dependent activation of Kir6.2/SUR2A channels but not Kir6.2/SUR1 channels in the presence of ATP
nork: Ashcroft, F, et al.
Argitaratua: (2001)

The Kir6.2-F333I mutation differentially modulates K ATP channels composed of SUR1 and SUR2 subunits
nork: Tammaro, P, et al.
Argitaratua: (2007)

The Kir6.2-F333I mutation differentially modulates K-ATP channels composed of SUR1 or SUR2 subunits
nork: Tammaro, P, et al.
Argitaratua: (2007)

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
nork: Gloyn, A, et al.
Argitaratua: (2004)

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
nork: Massa, O, et al.
Argitaratua: (2005)

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

Time-dependent activation of KIR6.2/SUR2A channels but not KIR6.2/SUR1 channels in the presence of MgATP
nork: Song, D, et al.
Argitaratua: (2001)

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

Quantitative traits associated with the Type 2 diabetes susceptibility allele in Kir6.2.
nork: Weedon, M, et al.
Argitaratua: (2003)

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