Asn674Ile mutation in carbamoyl phosphate synthetase 1 promotes enzyme alteration and hyperammonemia in mice

By sjmartinez • May 28, 2025

Bakshi S, Diep T, Willis BJ, Reyes R, Wu GF, Makris G, Poms M, Day I, Sun Q, Zhuravka I, Lueptow L, Tang M, Cromie GA, Dudley AM, Häberle J, Lipshutz GS. Asn674Ile mutation in carbamoyl phosphate synthetase 1 promotes enzyme alteration and hyperammonemia in mice. Dis Model Mech. 2025 May 27:dmm.052303. doi: 10.1242/dmm.052303. Epub ahead of print. PMID: 40421838.

Tags: Carbamoyl Phosphate Synthetase Deficiency, Endocrinology, Enzyme activity, glutamine, Human mutation, hyperammonemia, Publications

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