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

AIMS/HYPOTHESIS: The mammalian enzyme glucokinase (GK), expressed predominantly in liver and pancreas, plays an essential role in carbohydrate metabolism. Monogenic GK disorders emphasise the role of GK in determining the blood glucose set point. METHODS: A family with congenital hyperinsulinism (CH...

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Detalles Bibliográficos
Autores principales: Langer, Sara, Waterstradt, Rica, Hillebrand, Georg, Santer, René, Baltrusch, Simone
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8563668/
https://www.ncbi.nlm.nih.gov/pubmed/34532767
http://dx.doi.org/10.1007/s00125-021-05553-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8563668/
https://www.ncbi.nlm.nih.gov/pubmed/34532767
http://dx.doi.org/10.1007/s00125-021-05553-w

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