The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes.

Langer, Sara; Waterstradt, Rica; Hillebrand, Georg; Santer, René; Baltrusch, Simone

Langer, Sara; Waterstradt, Rica; Hillebrand, Georg; Santer, René; Baltrusch, Simone.

Afiliação

Langer S; Institute of Medical Biochemistry and Molecular Biology, University Medicine Rostock, Rostock, Germany.
Waterstradt R; Institute of Medical Biochemistry and Molecular Biology, University Medicine Rostock, Rostock, Germany.
Hillebrand G; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
Santer R; Department of Pediatrics, Medical Center Itzehoe, Itzehoe, Germany.
Baltrusch S; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.

Diabetologia ; 64(12): 2687-2700, 2021 12.

Article em En | MEDLINE | ID: mdl-34532767

Assuntos

Diabetes Mellitus Tipo 2; Hiperinsulinismo; Regulação Alostérica/genética; Animais; Diabetes Mellitus Tipo 2/metabolismo; Feminino; Glucoquinase/genética; Glucose/metabolismo; Hiperinsulinismo/genética; Cinética; Masculino; Mamíferos/metabolismo; Aumento de Peso

Palavras-chave

Congenital hyperinsulinism; Fructose 2,6-bisphosphatase; Glucokinase; Glucokinase regulatory protein; Glucose homeostasis; Mannoheptulose; RO-28-1675

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diabetes Mellitus Tipo 2 / Hiperinsulinismo Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals Idioma: En Revista: Diabetologia Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha

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