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

BACKGROUND: 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 protein-induced HI and elevated plasma ammonia levels. These symptoms may b...

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Autores principales: Luczkowska, Karolina, Stekelenburg, Caroline, Sloan-Béna, Frédérique, Ranza, Emmanuelle, Gastaldi, Giacomo, Schwitzgebel, Valérie, Maechler, Pierre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060525/
https://www.ncbi.nlm.nih.gov/pubmed/32143698
http://dx.doi.org/10.1186/s40246-020-00262-8

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