Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.
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DOI: 10.1016/j.ymgme.2016.12.002
Abstract: 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)… read more here.
Keywords: medicine; carbamyl glutamate; cps1; mutant cps1 ... See more keywords