Article

Structure and enzymology of glutaminase mutants that disrupt glutamine-glutamate homeostasis and cause neurological disease

2025-09-17

Abstract excerpt

The glutaminase (GLS) isoforms KGA and GAC are expressed in neurons where they hydrolyze glutamine to produce the excitatory neurotransmitter glutamate. Two de novo gain-of-function mutants of GLS, S482C and H461L, were recently identified in patients with developmental delay, epilepsy, and infantile cataract. These patients exhibited high glutamate and low glutamine concentrations in the brain, suggesting that t...

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Literature Corpus work: 87100d8b-2e3e-56af-9a80-d57ed9210677
DOI: 10.1101/2025.09.14.674662

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