Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function

Marthinet, Eric; Bloc, Alain André Leon; Oka, Yoshimoto; Tanizawa, Yukio; Wehrle-Haller, Bernhard; Bancila, Victor; Dubuis, Jean-Michel Marie Maurice; Philippe, Jacques; Schwitzgebel Luscher, Valérie

doi:10.1210/jc.2005-0202

Scientific article

English

Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function

ContributorsMarthinet, Eric; Bloc, Alain André Leon; Oka, Yoshimoto; Tanizawa, Yukio; Wehrle-Haller, Bernhard

; Bancila, Victor; Dubuis, Jean-Michel Marie Maurice; Philippe, Jacques; Schwitzgebel Luscher, Valérie

Published inThe Journal of clinical endocrinology and metabolism, vol. 90, no. 9, p. 5401-5406

Publication date2005

Abstract

The ATP-sensitive potassium (K(ATP)) channel, assembled from the inwardly rectifying potassium channel Kir6.2 and the sulfonylurea receptor 1, regulates insulin secretion in beta-cells. A loss of function of K(ATP) channels causes depolarization of beta-cells and congenital hyperinsulinism (CHI), a disease presenting with severe hypoglycemia in the newborn period.

Keywords

ATP-Binding Cassette Transporters/genetics/metabolism
Adenosine Triphosphate/metabolism
Amino Acid Sequence
Cell Line
Fluorescent Antibody Technique
Homozygote
Humans
Hyperinsulinism/congenital/genetics
Immunohistochemistry
Infant, Newborn
Microscopy, Confocal
Molecular Sequence Data
Mutation, Missense
Patch-Clamp Techniques
Potassium Channels/genetics/metabolism
Potassium Channels, Inwardly Rectifying/genetics/metabolism/physiology
Protein Transport
Receptors, Drug/genetics/metabolism
Staining and Labeling
Sulfonylurea Receptors
Transfection

Affiliation entities

Research groups

Citation (ISO format)

MARTHINET, Eric et al. Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function. In: The Journal of clinical endocrinology and metabolism, 2005, vol. 90, n° 9, p. 5401–5406. doi: 10.1210/jc.2005-0202

Article (Accepted version)

Identifiers

PID : unige:36659
DOI : 10.1210/jc.2005-0202
PMID : 15998776

Journal ISSN0021-972X

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Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function

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