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

Differences in fat distribution between metabolically unhealthy people with normal weight versus obesity, NHANES 2011-2018

Anand S, Pasupneti T, Pak Y, Kalangi ST, Garg R. Differences in fat distribution between metabolically unhealthy people with normal weight versus obesity, NHANES 2011-2018.[...]

Methylation risk score of C-reactive protein associates sleep health with related health outcomes

Wang Z, Wallace DA, Spitzer BW, Huang T, Taylor KD, Rotter JI, Rich SS, Liu PY, Daviglus ML, Hou L, Ramos AR, Kaur S, Durda[...]

Hemophagocytic Lymphohistiocytosis Complicating a Case of Drug-Induced Liver Injury Precipitated by Cephalexin: A Rare Consequence of Commonly Prescribed Medications

Newman MT, Mai TA, McClanaghan J, Burley N, Robinson T, Jiang Y, Sahota A. Hemophagocytic Lymphohistiocytosis Complicating a Case of Drug-Induced Liver Injury Precipitated by[...]