Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

doi:10.1210/me.2009-0094

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Article

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

Molecular endocrinology (Baltimore, Md.) - 1 Dec 2009

Barbetti Fabrizio, Cobo-Vuilleumier Nadia, Dionisi-Vici Carlo, Toni Sonia, Ciampalini Paolo, Massa Ornella, Rodriguez-Bada Pablo, Colombo Carlo, Lenzi Lorenzo, Garcia-Gimeno María A, Bermudez-Silva Francisco J, Rodriguez de Fonseca Fernando, Banin Patrizia, Aledo Juan C, Baixeras Elena, Sanz Pascual, Cuesta-Muñoz Antonio L

Abstract excerpt

Glucokinase is essential for glucose-stimulated insulin release from the pancreatic beta-cell, serving as glucose sensor in humans. Inactivating or activating mutations of glucokinase lead to different forms of glucokinase disease, i.e. GCK-monogenic diabetes of youth, permanent neonatal diabetes (inactivating mutations), and congenital hyperinsulinism, respectively. Here we present a novel glucokinase gene...

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PMID: 19884385
DOI: 10.1210/me.2009-0094
PMCID: PMC5419125

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