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Article

A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase.

Molecular genetics and metabolism - 1 Jun 2012

Senkevitch Emilee, Cabrera-Luque Juan, Morizono Hiroki, Caldovic Ljubica, Tuchman Mendel

Abstract excerpt

All knockout mouse models of urea cycle disorders die in the neonatal period or shortly thereafter. Since N-acetylglutamate synthase (NAGS) deficiency in humans can be effectively treated with N-carbamyl-l-glutamate (NCG), we sought to develop a mouse model of this disorder that could be rescued by biochemical intervention, reared to adulthood, reproduce, and become a novel animal model for hyperammonemia....

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Identifiers

PMID: 22503289
DOI: 10.1016/j.ymgme.2012.03.004
PMCID: PMC3356441

Genes

NAGS

Provenance

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