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.

Afiliación

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 en En | MEDLINE | ID: mdl-34532767

Asunto(s)

Diabetes Mellitus Tipo 2; Hiperinsulinismo; Regulación Alostérica/genética; Animales; Diabetes Mellitus Tipo 2/metabolismo; Femenino; Glucoquinasa/genética; Glucosa/metabolismo; Hiperinsulinismo/genética; Cinética; Masculino; Mamíferos/metabolismo; Aumento de Peso

Palabras clave

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

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Diabetes Mellitus Tipo 2 / Hiperinsulinismo Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals Idioma: En Revista: Diabetologia Año: 2021 Tipo del documento: Article País de afiliación: Alemania

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