A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults (Q27865212)

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English	A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults	scientific article

Statements

scholarly article

1 reference

16 November 2016

A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults (English)

1 reference

16 November 2016

type 2 diabetes

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Philippe Froguel

9

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Martine Vaxillaire

10

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Andrei I Tarasov

object named as

Andrei I Tarasov

1

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Stephen A. Baldwin

5

object named as

Stephen A Baldwin

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11

object named as

Guy A Rutter

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author name string

Tarvinder K Taneja

4

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Tamara J Nicolson

2

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Jocelyn M Baldwin

6

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Jean-Pierre Riveline

3

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Jean-François Gautier

8

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Guillaume Charpentier

7

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language of work or name

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publication date

June 2008

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1 reference

57

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1595-604

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6

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Generating new candidate genes for neonatal diabetes: functional and genetic studies of insulin secretion in type 2 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Identification of the PIP2-binding site on Kir6.2 by molecular modelling and functional analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

A Kir6.2 mutation causing neonatal diabetes impairs electrical activity and insulin secretion from INS-1 beta-cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Structure of a bacterial multidrug ABC transporter

1 reference

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27 November 2018

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

K(ATP) channels and insulin secretion: a key role in health and disease

1 reference

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27 November 2018

Impact of differences in fasting glucose and glucose tolerance on the hyperbolic relationship between insulin sensitivity and insulin responses

1 reference

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27 November 2018

3-D structural and functional characterization of the purified KATP channel complex Kir6.2-SUR1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

ATP-sensitive potassium channelopathies: focus on insulin secretion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Visualising insulin secretion. The Minkowski Lecture 2004.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

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?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Sur domains that associate with and gate KATP pores define a novel gatekeeper

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Phosphocreatine as a determinant of K(ATP) channel activity in pancreatic beta-cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

The insulin secretory granule is the major site of K(ATP) channels of the endocrine pancreas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

The common single nucleotide polymorphism E23K in K(IR)6.2 sensitizes pancreatic beta-cell ATP-sensitive potassium channels toward activation through nucleoside diphosphates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Transmembrane topology of the sulfonylurea receptor SUR1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Adenylate kinase phosphotransfer communicates cellular energetic signals to ATP-sensitive potassium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

ATPase activity of the sulfonylurea receptor: a catalytic function for the KATP channel complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

ATP4- mediates closure of pancreatic beta-cell ATP-sensitive potassium channels by interaction with 1 of 4 identical sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Isolation of INS-1-derived cell lines with robust ATP-sensitive K+ channel-dependent and -independent glucose-stimulated insulin secretion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Targeted Overactivity of β Cell KATP Channels Induces Profound Neonatal Diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Imaging Ca2+ concentration changes at the secretory vesicle surface with a recombinant targeted cameleon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

The effect of transfection with Botulinum neurotoxin C1 light chain on exocytosis measured in cell populations and by single-cell amperometry in PC12 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

PIP2 and PIP as determinants for ATP inhibition of KATP channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Membrane phospholipid control of nucleotide sensitivity of KATP channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Mechanism of cloned ATP-sensitive potassium channel activation by oleoyl-CoA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Glucose modulation of ATP-sensitive K-currents in wild-type, homozygous and heterozygous glucokinase knock-out mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Octameric stoichiometry of the KATP channel complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Adenosine diphosphate as an intracellular regulator of insulin secretion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Use of fura red as an intracellular calcium indicator in frog skeletal muscle fibers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

A new generation of Ca2+ indicators with greatly improved fluorescence properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Electrophysiology of the pancreatic beta-cell

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Intracellular ADP activates K+ channels that are inhibited by ATP in an insulin-secreting cell line

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

A metabolite-regulated potassium channel in rat pancreatic B cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6101196

27 November 2018

Two sites for adenine-nucleotide regulation of ATP-sensitive potassium channels in mouse pancreatic ?-cells and HIT cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/18346985

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An adenylate kinase is involved in KATP channel regulation of mouse pancreatic beta cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/18346985

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies of the ATPase activity of the ABC protein SUR1

1 reference

https://pubmed.ncbi.nlm.nih.gov/18346985

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intracellular ATP-sensitive K+ channels in mouse pancreatic beta cells: against a role in organelle cation homeostasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18346985

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ATP sensitivity of the ATP-sensitive K+ channel in intact and permeabilized pancreatic beta-cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/18346985

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Mutation in the TMD0-L0 Region of Sulfonylurea Receptor-1 (L225P) Causes Permanent Neonatal Diabetes Mellitus (PNDM)

1 reference

https://pubmed.ncbi.nlm.nih.gov/18346985

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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