Associated Papers
Structure and enzymology of glutaminase mutants that disrupt glutamine-glutamate homeostasis and cause neurological disease.
Crane CS et al.
Biorxiv : the Preprint Server for Biology, 2025
Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71.
Bazgir A et al.
Neurogenetics, 2024
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
Rumping L et al.
Jimd Reports, 2023
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
Stutterd CA et al.
European Journal of Medical Genetics, 2022
Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity.
Rumping L et al.
Biochimica Et Biophysica Acta. General Subjects, 2020
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.
Rumping L et al.
Human Molecular Genetics, 2019
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