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Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
Haskins N, Bhuvanendran S, Anselmi C, Gams A, Kanholm T, Kocher KM, LoTempio J, Krohmaly KI, Sohai D, Stearrett N, Bonner E, Tuchman M, Morizono H, Jaiswal JK, Caldovic L. Haskins N, et al. Front Physiol. 2021 Jan 21;11:542950. doi: 10.3389/fphys.2020.542950. eCollection 2020. Front Physiol. 2021. PMID: 33551825 Free PMC article.
N-acetylglutamate synthase: structure, function and defects.
Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M. Caldovic L, et al. Mol Genet Metab. 2010;100 Suppl 1(Suppl 1):S13-9. doi: 10.1016/j.ymgme.2010.02.018. Epub 2010 Feb 26. Mol Genet Metab. 2010. PMID: 20303810 Free PMC article. Review.
Datamining approaches for examining the low prevalence of N-acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes.
Caldovic L, Ahn JJ, Andricovic J, Balick VM, Brayer M, Chansky PA, Dawson T, Edwards AC, Felsen SE, Ismat K, Jagannathan SV, Mann BT, Medina JA, Morizono T, Morizono M, Salameh S, Vashist N, Williams EC, Zhou Z, Morizono H. Caldovic L, et al. J Inherit Metab Dis. 2024 Nov;47(6):1175-1193. doi: 10.1002/jimd.12687. Epub 2023 Nov 5. J Inherit Metab Dis. 2024. PMID: 37847851 Free PMC article.