Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase | Human Genomics | Full Text

Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase | Human Genomics | Full Text

Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase

Gain-of-function mutations in the GLUD1 gene, encoding for glutamate dehydrogenase (GDH), result in the hyperinsulinism/hyperammonemia HI/HA syndrome. HI/HA patients present with harmful hypoglycemia secondary to...

Authors:Karolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, Emmanuelle Ranza, Giacomo Gastaldi, Valérie Schwitzgebel and Pierre Maechler

Citation:Human Genomics 2020 14:9

Content type:Primary research

Published on: 6 March 2020

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