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Article

Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency.

The Journal of biological chemistry - 1 Sept 2022

Staklinski Stephen J, Chang Mario C, Yu Fang, Collins Ruff Kathleen, Franz David N, Qian Zhijian, Bloom Linda B, Merritt Matthew E, McKenna Robert, Kilberg Michael S

Abstract excerpt

Asparagine synthetase (ASNS) catalyzes synthesis of asparagine (Asn) and Glu from Asp and Gln in an ATP-dependent reaction. Asparagine synthetase deficiency (ASNSD) results from biallelic mutations in the ASNS gene. Affected children exhibit congenital microcephaly, continued brain atrophy, seizures, and often premature mortality. However, the underlying mechanisms are unclear. This report describes a compound...

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Identifiers

PMID: 35985424
DOI: 10.1016/j.jbc.2022.102385
PMCID: PMC9478401

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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