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Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.
Khoja S, Nitzahn M, Hermann K, Truong B, Borzone R, Willis B, Rudd M, Palmer DJ, Ng P, Brunetti-Pierri N, Lipshutz GS. Khoja S, et al. Among authors: lipshutz gs. Mol Genet Metab. 2018 Aug;124(4):243-253. doi: 10.1016/j.ymgme.2018.04.001. Epub 2018 Apr 12. Mol Genet Metab. 2018. PMID: 29801986 Free PMC article.
Hepatic glutamine synthetase augmentation enhances ammonia detoxification.
Soria LR, Nitzahn M, De Angelis A, Khoja S, Attanasio S, Annunziata P, Palmer DJ, Ng P, Lipshutz GS, Brunetti-Pierri N. Soria LR, et al. Among authors: lipshutz gs. J Inherit Metab Dis. 2019 Nov;42(6):1128-1135. doi: 10.1002/jimd.12070. Epub 2019 Mar 11. J Inherit Metab Dis. 2019. PMID: 30724386 Free PMC article.
CPS1: Looking at an ancient enzyme in a modern light.
Nitzahn M, Lipshutz GS. Nitzahn M, et al. Among authors: lipshutz gs. Mol Genet Metab. 2020 Nov;131(3):289-298. doi: 10.1016/j.ymgme.2020.10.003. Epub 2020 Oct 10. Mol Genet Metab. 2020. PMID: 33317798 Free PMC article. Review.
O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis.
Soria LR, Makris G, D'Alessio AM, De Angelis A, Boffa I, Pravata VM, Rüfenacht V, Attanasio S, Nusco E, Arena P, Ferenbach AT, Paris D, Cuomo P, Motta A, Nitzahn M, Lipshutz GS, Martínez-Pizarro A, Richard E, Desviat LR, Häberle J, van Aalten DMF, Brunetti-Pierri N. Soria LR, et al. Among authors: lipshutz gs. Nat Commun. 2022 Sep 5;13(1):5212. doi: 10.1038/s41467-022-32904-x. Nat Commun. 2022. PMID: 36064721 Free PMC article.
95 results