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Article

Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.

Human mutation - 1 Jul 2010

Pekkala Satu, Martínez Ana I, Barcelona Belén, Yefimenko Igor, Finckh Ulrich, Rubio Vicente, Cervera Javier

Abstract excerpt

Carbamoyl-phosphate synthetase I (CPS1) deficiency (CPS1D), a recessively inherited urea cycle error due to CPS1 gene mutations, causes life-threatening hyperammonemia. The disease-causing potential of missense mutations in CPS1 deficiency can be ascertained with the recombinant CPS1 expression and purification system reported here, which uses baculovirus and insect cells. We study with this system the effects of...

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Identifiers

PMID: 20578160
DOI: 10.1002/humu.21272

Genes

CPS1

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

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