Article

Conformational Remodeling Underlies Activity Loss in Disease-Linked Asparagine Synthetase Variant

2026-02-03

Abstract excerpt

Asparagine synthetase deficiency (ASNSD) is a devastating congenital disorder characterized by profound neurological impairment and early childhood mortality. It is associated with pathogenic mutations in the asparagine synthetase (ASNS) gene. Despite the critical role of ASNS in the amino acid cycle, the molecular basis by which ASNSD-linked missense mutations impair enzyme function remains poorly understood. Her...

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Literature Corpus work: 9c834dfb-b9dd-5ec6-b606-ac1e46a838fe
DOI: 10.64898/2026.02.01.703106

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