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Article

Structure and enzymology of glutaminase S482C and H461L variants associated with excess brain glutamate and neurological disease.

The Journal of biological chemistry - 1 Jun 2026

Crane Cléa S, McIssac Thora K, Milano Shawn K, Cerione Richard A, Ulrich Scott M

Abstract excerpt

Glutaminase variants associated with neurological diseaseGlutaminase (GLS) catalyzes the hydrolysis of glutamine to produce glutamate, the brain's principal excitatory neurotransmitter. Two de novo gain-of-function mutations in GLS, S482C and H461L, were recently identified in patients with developmental delay, epilepsy, and infantile cataract. These patients exhibited high glutamate and low glutamine...

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Identifiers

PMID: 42055345
DOI: 10.1016/j.jbc.2026.113091
PMCID: PMC13218152

Genes

GLS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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