The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): a major ATP-binding residue.

The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): a major ATP-binding residue.

BACKGROUND: Closure of the adenosine triphosphate (ATP)-sensitive potassium (K(ATP)) channel plays a key role in insulin secretion from the pancreatic beta-cells. Many mutations in KCNJ11 and ABCC8, which respectively encode the pore-forming (Kir6.2) and regulatory (SUR1) subunits of the K(ATP) cha...

Descrizione completa

Dettagli Bibliografici
Autori principali:	Shimomura, K, de Nanclares, G, Foutinou, C, Caimari, M, Castaño, L, Ashcroft, F
Natura:	Journal article
Lingua:	English
Pubblicazione:	2010

Documenti analoghi

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

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

Identification of residues contributing to the ATP binding site of Kir6.2.
di: Trapp, S, et al.
Pubblicazione: (2003)

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

The role of lysine 185 in the kir6.2 subunit of the ATP-sensitive channel in channel inhibition by ATP.
di: Reimann, F, et al.
Pubblicazione: (1999)

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

Mapping the architecture of the ATP-binding site of Kir6.2
di: Dabrowski, M, et al.
Pubblicazione: (2002)

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

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

Screening for mutations in the Kir6.2 subunit of the beta-cell K-ATP channel
di: Sakura, H, et al.
Pubblicazione: (1996)

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

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

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

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

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

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.
di: Flanagan, SE, et al.
Pubblicazione: (2009)

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.
di: Edghill, E, et al.
Pubblicazione: (2004)

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

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

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

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

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

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

Gain-of-function mutations in the K(ATP) channel (KCNJ11) impair coordinated hand-eye tracking
di: McTaggart, J, et al.
Pubblicazione: (2013)

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

Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.
di: Tammaro, P, et al.
Pubblicazione: (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.
di: Flanagan, SE, et al.
Pubblicazione: (2006)

Kir6.2-dependent high-affinity repaglinide binding to beta-cell K(ATP) channels.
di: Hansen, A, et al.
Pubblicazione: (2005)

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

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

Interaction of the cytosolic domains of the Kir6.2 subunit of the K(ATP) channel is modulated by sulfonylureas.
di: Lippiat, J, et al.
Pubblicazione: (2002)

Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit.
di: Antcliff, J, et al.
Pubblicazione: (2005)

Direct photoaffinity labeling of the Kir6.2 subunit of the ATP-sensitive K+ channel by 8-azido-ATP.
di: Tanabe, K, et al.
Pubblicazione: (1999)

Behavioral phenotyping of mice lacking the K ATP channel subunit Kir6.2.
di: Deacon, R, et al.
Pubblicazione: (2006)

Behavioral phenotyping of mice lacking the K ATP channel subunit Kir6.2.
di: Deacon, R, et al.
Pubblicazione: (2006)

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

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

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

Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor.
di: Tucker, S, et al.
Pubblicazione: (1997)

A novel SUR1/Kir6.2 specific K-ATP channel opener
di: Dabrowski, M, et al.
Pubblicazione: (2001)