Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism (Q36042053)

11 August 2017

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism (English)

1 reference

11 August 2017

Andrew Tym Hattersley

13

Andrew Hattersley

1 reference

11 August 2017

Brittany Zadek

3

0 references

Roope Mannikko

Roope Mannikko

8

0 references

Sarah Flanagan

Sarah E Flanagan

2

0 references

Peter E. Clayton

Peter Clayton

12

0 references

Sian Ellard

Sian Ellard

14

0 references

author name string

Kenju Shimomura

1

1 reference

11 August 2017

Mark Lethby

4

1 reference

11 August 2017

Lejla Zubcevic

5

1 reference

11 August 2017

Christophe A J Girard

6

1 reference

11 August 2017

Oliver Petz

7

1 reference

11 August 2017

Ritika R Kapoor

9

1 reference

11 August 2017

Khalid Hussain

10

1 reference

11 August 2017

Mars Skae

11

1 reference

11 August 2017

Frances M Ashcroft

15

1 reference

11 August 2017

1 June 2009

1 reference

11 August 2017

EMBO Molecular Medicine

1 reference

11 August 2017

1

1 reference

11 August 2017

3

1 reference

11 August 2017

166-177

1 reference

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

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

Crystal structure of a Kir3.1-prokaryotic Kir channel chimera

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

KATP channels as molecular sensors of cellular metabolism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

Hyperinsulinism in infancy: from basic science to clinical disease.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

Triggering and amplifying pathways of regulation of insulin secretion by glucose

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

The kinetic and physical basis of K(ATP) channel gating: toward a unified molecular understanding

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

Targeted Overactivity of β Cell KATP Channels Induces Profound Neonatal Diabetes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

MgATP activates the beta cell KATP channel by interaction with its SUR1 subunit.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

Regulation of KATP channel activity by diazoxide and MgADP. Distinct functions of the two nucleotide binding folds of the sulfonylurea receptor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

Activation and inhibition of K-ATP currents by guanine nucleotides is mediated by different channel subunits.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

The essential role of the Walker A motifs of SUR1 in K-ATP channel activation by Mg-ADP and diazoxide

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

Adenosine diphosphate as an intracellular regulator of insulin secretion.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378123

The Walter B. Cannon Physiology in Perspective Lecture, 2007. ATP-sensitive K+ channels and disease: from molecule to malady.

11 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.200900018

Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.200900018

A novel method for measurement of submembrane ATP concentration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.200900018

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.200900018

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.200900018

Cytoplasmic domain structures of Kir2.1 and Kir3.1 show sites for modulating gating and rectification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.200900018

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.200900018

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.200900018

Burst kinetics of single calcium-activated potassium channels in cultured rat muscle

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20049716

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.200900018

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/EMMM.200900018

1 reference

11 August 2017

1 reference

11 August 2017

1 reference