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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. Nat Commun. 2022 Sep 5;13(1):5212. doi: 10.1038/s41467-022-32904-x. Nat Commun. 2022. PMID: 36064721 Free PMC article.
Gene therapy for guanidinoacetate methyltransferase deficiency restores cerebral and myocardial creatine while resolving behavioral abnormalities.
Khoja S, Lambert J, Nitzahn M, Eliav A, Zhang Y, Tamboline M, Le CT, Nasser E, Li Y, Patel P, Zhuravka I, Lueptow LM, Tkachyova I, Xu S, Nissim I, Schulze A, Lipshutz GS. Khoja S, et al. Mol Ther Methods Clin Dev. 2022 Mar 28;25:278-296. doi: 10.1016/j.omtm.2022.03.015. eCollection 2022 Jun 9. Mol Ther Methods Clin Dev. 2022. PMID: 35505663 Free PMC article.
Noninvasive Imaging of Drug-Induced Liver Injury with 18F-DFA PET.
Salas JR, Chen BY, Wong A, Duarte S, Angarita SAK, Lipshutz GS, Witte ON, Clark PM. Salas JR, et al. J Nucl Med. 2018 Aug;59(8):1308-1315. doi: 10.2967/jnumed.117.206961. Epub 2018 Mar 1. J Nucl Med. 2018. PMID: 29496991 Free PMC article.
Intermittent lipid nanoparticle mRNA administration prevents cortical dysmyelination associated with arginase deficiency.
Khoja S, Liu XB, Truong B, Nitzahn M, Lambert J, Eliav A, Nasser E, Randolph E, Burke KE, White R, Zhu X, Martini PGV, Nissim I, Cederbaum SD, Lipshutz GS. Khoja S, et al. Mol Ther Nucleic Acids. 2022 Apr 27;28:859-874. doi: 10.1016/j.omtn.2022.04.012. eCollection 2022 Jun 14. Mol Ther Nucleic Acids. 2022. PMID: 35694211 Free PMC article.