AMP-activated protein kinase (AMPK) is present in different kinds of metabolically active
cells. AMPK is an important intracellular energy sensor and plays a relevant role in whole …

Genetic characteristics of patients with congenital hyperins... : Current Opinion in Pediatrics
Genetic characteristics of patients with congenital hyperinsulinism : Current Opinion in …

Ammonia detoxification and gluconeogenesis are major hepatic functions mutually
connected through amino acid metabolism. The liver is rich in glutamate dehydrogenase …

Patients with fatty liver diseases present altered mitochondrial morphology and impaired
metabolic function. Mitochondrial dynamics and related cell function require the uncleaved …

Loss-of-function mutations in glutaminase (GLS), the enzyme converting glutamine into
glutamate, and the counteracting enzyme glutamine synthetase (GS) cause disturbed …

Pancreatic β cells dedicate much of their protein translation capacity to producing insulin to
maintain glucose homeostasis. In response to increased secretory demand, β cells can …

Abstract l-Glutamate is one of the most abundant amino acids in the body and is a
constituent of proteins and a substrate in metabolism. It is well known that glutamate serves …

Pancreatic beta-cells secrete insulin in response to circulating glucose, thereby maintaining
euglycemia. Inside the beta-cell, glucose is transformed into intracellular signals stimulating …

Background Gain-of-function mutations in the GLUD1 gene, encoding for glutamate
dehydrogenase (GDH), result in the hyperinsulinism/hyperammonemia HI/HA syndrome …

Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on
genetic defects of enzymes that directly metabolise glutamate, leading to inborn errors of …