Ontology highlight
ABSTRACT:
SUBMITTER: Shi D
PROVIDER: S-EPMC5346444 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Shi Dashuang D Zhao Gengxiang G Ah Mew Nicholas N Tuchman Mendel M
Molecular genetics and metabolism 20161208 3
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 sub-optimally compared to NAG. Similar to NAG, NCG, in combination with MgATP, stabilizes ...[more]