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Article

Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.

Molecular genetics and metabolism - 1 Mar 2017

Shi Dashuang, Zhao Gengxiang, Ah Mew Nicholas, Tuchman Mendel

Abstract excerpt

This study documents the disparate therapeutic effect of N-carbamyl-l-glutamate (NCG) in the activation of two different disease-causing mutants of carbamyl phosphate synthetase 1 (CPS1). We investigated the effects of NCG on purified recombinant wild-type (WT) mouse CPS1 and its human corresponding E1034G (increased ureagenesis on NCG) and M792I (decreased ureagenesis on NCG) mutants. NCG activates WT CPS1...

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Source

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Identifiers

PMID: 28007335
DOI: 10.1016/j.ymgme.2016.12.002
PMCID: PMC5346444

Genes

CPS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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