(Q36428374)

English

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

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

congenital disorder

0 references

Charles A Stanley

object named as

Charles A Stanley

5

0 references

author name string

Fei-Fei Yan

1

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Yu-Wen Lin

2

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Courtney MacMullen

3

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Arupa Ganguly

4

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Show-Ling Shyng

6

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

language of work or name

0 references

publication date

15 June 2007

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

56

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

9

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

2339-2348

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Molecular mechanisms of neonatal hyperinsulinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

Sulfonylureas correct trafficking defects of disease-causing ATP-sensitive potassium channels by binding to the channel complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

Kir6.2 mutations associated with neonatal diabetes reduce expression of ATP-sensitive K+ channels: implications in disease mechanism and sulfonylurea therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

Medications used in the treatment of hypoglycemia due to congenital hyperinsulinism of infancy (HI).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

Membrane phosphoinositides control insulin secretion through their effects on ATP-sensitive K+ channel activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

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=2225993

30 September 2017

Toward linking structure with function in ATP-sensitive K+ channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

Hyperinsulinism in infancy: from basic science to clinical disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

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=2225993

30 September 2017

N-terminal transmembrane domain of the SUR controls trafficking and gating of Kir6 channel subunits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

K(ATP) channels and insulin secretion disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

Hyperinsulinism of the newborn

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

Familial hyperinsulinism and pancreatic beta-cell 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=2225993

30 September 2017

Congenital hyperinsulinism: molecular basis of a heterogeneous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

Molecular biology of adenosine triphosphate-sensitive potassium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

Genetic heterogeneity in familial hyperinsulinism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

Superfolding of the partially unfolded core-glycosylated intermediate of human P-glycoprotein into the mature enzyme is promoted by substrate-induced transmembrane domain interactions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

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=2225993

30 September 2017

Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

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=2225993

30 September 2017

Hyperinsulinism in infants and children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

30 September 2017

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

28 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

28 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

28 June 2018

Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

21 September 2018

Low temperature completely rescues the function of two misfolded K ATP channel disease-mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

21 September 2018

Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

21 September 2018

Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

21 September 2018

Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

21 September 2018

Sulfonylureas correct trafficking defects of ATP-sensitive potassium channels caused by mutations in the sulfonylurea receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

21 September 2018

Assembly, maturation, and turnover of K(ATP) channel subunits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

21 September 2018

Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

21 September 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=2225993

21 September 2018

Modulation of the trafficking efficiency and functional properties of ATP-sensitive potassium channels through a single amino acid in the sulfonylurea receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

21 September 2018

Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

21 September 2018

Identification of the high-affinity tolbutamide site on the SUR1 subunit of the K(ATP) channel.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2225993

21 September 2018

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/17575084

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal Diagnosis and Postnatal Management of Diffuse Congenital Hyperinsulinism: A Case Report

1 reference

https://pubmed.ncbi.nlm.nih.gov/17575084

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N- and C-terminal domains direct cell type-specific sorting of chromogranin A to secretory granules

1 reference

https://pubmed.ncbi.nlm.nih.gov/17575084

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Advances in Diagnosis and Treatment of Hyperinsulinism in Infants and Children

1 reference

https://pubmed.ncbi.nlm.nih.gov/17575084

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Co-expression of sulfonylurea receptors and KATP channels in hamster insulinoma tumor (HIT) cells. Evidence for direct association of the receptor with the channel.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17575084

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association and stoichiometry of K(ATP) channel subunits

1 reference

https://pubmed.ncbi.nlm.nih.gov/17575084

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subunit stoichiometry of the pancreatic β-cell ATP-sensitive K+ channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/17575084

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ions and genes in persistent hyperinsulinaemic hypoglycaemia in infancy: a commentary on the implications for tailoring treatment to disease pathogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17575084

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.2337/DB07-0150

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

ResearchGate publication ID

0 references

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