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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. Among authors: martinez pizarro a. Nat Commun. 2022 Sep 5;13(1):5212. doi: 10.1038/s41467-022-32904-x. Nat Commun. 2022. PMID: 36064721 Free PMC article.
RNA solutions to treat inborn errors of metabolism.
Martinez-Pizarro A, Desviat LR. Martinez-Pizarro A, et al. Mol Genet Metab. 2022 Aug;136(4):289-295. doi: 10.1016/j.ymgme.2022.07.006. Epub 2022 Jul 8. Mol Genet Metab. 2022. PMID: 35849888 Free PMC article. Review.
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
Spangsberg Petersen US, Dembic M, Martínez-Pizarro A, Richard E, Holm LL, Havelund JF, Doktor TK, Larsen MR, Færgeman NJ, Desviat LR, Andresen BS. Spangsberg Petersen US, et al. Among authors: martinez pizarro a. Mol Ther Nucleic Acids. 2023 Dec 13;35(1):102101. doi: 10.1016/j.omtn.2023.102101. eCollection 2024 Mar 12. Mol Ther Nucleic Acids. 2023. PMID: 38204914 Free PMC article.
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.
Martínez-Pizarro A, Picó S, López-Márquez A, Rodriguez-López C, Montalvo E, Alvarez M, Castro M, Ramón-Maiques S, Pérez B, Lucas JJ, Richard E, Desviat LR. Martínez-Pizarro A, et al. Hum Mol Genet. 2024 Mar 23:ddae051. doi: 10.1093/hmg/ddae051. Online ahead of print. Hum Mol Genet. 2024. PMID: 38520741