Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features (Q24320031)

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Jennifer F Antcliff

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Jon Lippiat

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Anna L Gloyn

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Andrew T Hattersley

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Frances M Ashcroft

Proceedings of the National Academy of Sciences of the United States of America

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language of work or name

English

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publication date

14 December 2004

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published in

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volume

101

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issue

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page(s)

17539-44

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cites work

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

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Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor

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Alternative sulfonylurea receptor expression defines metabolic sensitivity of K-ATP channels in dopaminergic midbrain neurons

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Targeted Overactivity of β Cell KATP Channels Induces Profound Neonatal Diabetes

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Kir6.2 polymorphisms sensitize beta-cell ATP-sensitive potassium channels to activation by acyl CoAs: a possible cellular mechanism for increased susceptibility to type 2 diabetes?

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Overlapping distribution of K(ATP) channel-forming Kir6.2 subunit and the sulfonylurea receptor SUR1 in rodent brain

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Cloning and functional expression of the cDNA encoding a novel ATP-sensitive potassium channel subunit expressed in pancreatic beta-cells, brain, heart and skeletal muscle

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Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients

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Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

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Neurotensin Inhibition of the Hyperpolarization‐Activated Cation Current (Ih) in the Rat Substantia Nigra Pars Compacta Implicates the Protein Kinase C Pathway

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Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus

21 January 2018

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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

21 January 2018

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K(IR)6.2 polymorphism predisposes to type 2 diabetes by inducing overactivity of pancreatic beta-cell ATP-sensitive K(+) channels

21 January 2018

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Distribution and phenotype of neurons containing the ATP-sensitive K+ channel in rat brain

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Cell-type specific depression of neuronal excitability in rat hippocampus by activation of ATP-sensitive potassium channels.

21 January 2018

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