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...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	Hattersley, A, Ashcroft, F
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2005

Antzeko izenburuak

Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.
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Molecular basis of Kir6.2 mutations causing neonatal diabetes and neonatal diabetes with neurological features
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Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
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Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
nork: Männikkö, R, et al.
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Permanent neonatal diabetes caused by an in-frame deletion in the N-terminus of Kir6.2
nork: Craig, T, et al.
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Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
nork: Shimomura, K, et al.
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A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.
nork: Proks, P, et al.
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Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.
nork: Girard, C, et al.
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A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.
nork: Männikkö, R, et al.
Argitaratua: (2011)

A Kir6.2 mutation causing neonatal diabetes impairs electrical activity and insulin secretion from INS-1 beta-cells.
nork: Tarasov, A, et al.
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The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation
nork: O'Connell, S, et al.
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A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.
nork: Tammaro, P, et al.
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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.
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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)

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)

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
nork: Gloyn, A, et al.
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Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
nork: Vaxillaire, M, et al.
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Neonatal diabetes - The role of KCNJ11 (Kir6.2)
nork: Tammaro, P
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Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
nork: Sagen, J, et al.
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Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
nork: Pearson, E, et al.
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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.
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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.
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Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.
nork: Tarasov, A, et al.
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Time-dependent activation of Kir6.2/SUR2A channels but not Kir6.2/SUR1 channels in the presence of ATP
nork: Ashcroft, F, et al.
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A mouse model of neonatal diabetes caused by the K-ATP channel mutation Kir6.2-V59M
nork: Girard, C, et al.
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Time-dependent activation of KIR6.2/SUR2A channels but not KIR6.2/SUR1 channels in the presence of MgATP
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Screening for mutations in the Kir6.2 subunit of the beta-cell K-ATP channel
nork: Sakura, H, et al.
Argitaratua: (1996)

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

Mapping the architecture of the ATP-binding site of Kir6.2
nork: Dabrowski, M, et al.
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Quantitative traits associated with the Type 2 diabetes susceptibility allele in Kir6.2.
nork: Weedon, M, et al.
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Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes.
nork: Girard, C, et al.
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Involvement of the n-terminus of Kir6.2 in coupling to the sulphonylurea receptor.
nork: Reimann, F, et al.
Argitaratua: (1999)

The N-terminus of Kir6.2 is involved in coupling to SUR1
nork: Reimann, F, et al.
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Identification of residues contributing to the ATP binding site of Kir6.2.
nork: Trapp, S, et al.
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Mutations within the P-loop of Kir6.2 modulate the intraburst kinetics of the ATP-sensitive potassium channel.
nork: Proks, P, et al.
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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.
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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.
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Involvement of the N-terminus of Kir6.2 in the inhibition of the KATP channel by ATP.
nork: Proks, P, et al.
Argitaratua: (1999)

Mapping the architecture of the ATP-binding site of the KATP channel subunit Kir6.2.
nork: Dabrowski, M, et al.
Argitaratua: (2004)

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)