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Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
Tokatly Latzer I, Roullet JB, Afshar-Saber W, Lee HHC, Bertoldi M, McGinty GE, DiBacco ML, Arning E, Tsuboyama M, Rotenberg A, Opladen T, Jeltsch K, García-Cazorla À, Juliá-Palacios N, Gibson KM, Sahin M, Pearl PL. Tokatly Latzer I, et al. Among authors: bertoldi m. J Neurodev Disord. 2024 Apr 24;16(1):21. doi: 10.1186/s11689-024-09538-9. J Neurodev Disord. 2024. PMID: 38658850 Free PMC article.
Mapping of human autoantibody epitopes on aromatic L-amino acid decarboxylase.
Candeloro P, Voltattorni CB, Perniola R, Bertoldi M, Betterle C, Mannelli M, Giordano R, De Bellis A, Tiberti C, Laureti S, Santeusanio F, Falorni A. Candeloro P, et al. Among authors: bertoldi m. J Clin Endocrinol Metab. 2007 Mar;92(3):1096-105. doi: 10.1210/jc.2006-2319. Epub 2007 Jan 2. J Clin Endocrinol Metab. 2007. PMID: 17200166
Resveratrol accelerates erythroid maturation by activation of FoxO3 and ameliorates anemia in beta-thalassemic mice.
Franco SS, De Falco L, Ghaffari S, Brugnara C, Sinclair DA, Matte' A, Iolascon A, Mohandas N, Bertoldi M, An X, Siciliano A, Rimmelé P, Cappellini MD, Michan S, Zoratti E, Anne J, De Franceschi L. Franco SS, et al. Among authors: bertoldi m. Haematologica. 2014 Feb;99(2):267-75. doi: 10.3324/haematol.2013.090076. Epub 2013 Aug 23. Haematologica. 2014. PMID: 23975182 Free PMC article. Clinical Trial.
Reaction specificity of native and nicked 3,4-dihydroxyphenylalanine decarboxylase.
Bertoldi M, Frigeri P, Paci M, Voltattorni CB. Bertoldi M, et al. J Biol Chem. 1999 Feb 26;274(9):5514-21. doi: 10.1074/jbc.274.9.5514. J Biol Chem. 1999. PMID: 10026165 Free article.
Whereas oxidative deamination occurs under aerobic conditions (Bertoldi, M., Moore, P. S., Maras, B., Dominici, P., and Borri Voltattorni, C. (1996) J. Biol. Chem. 271, 23954-23959; Bertoldi, M., Dominici, P., Moore, P. S., Maras, B., and Borri Voltatt …
Whereas oxidative deamination occurs under aerobic conditions (Bertoldi, M., Moore, P. S., Maras, B., Dominici, P., and Borri …
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
Brennenstuhl H, Didiasova M, Assmann B, Bertoldi M, Molla G, Jung-Klawitter S, Kuseyri Hübschmann O, Schröter J, Opladen T, Tikkanen R. Brennenstuhl H, et al. Among authors: bertoldi m. Int J Mol Sci. 2020 Nov 13;21(22):8578. doi: 10.3390/ijms21228578. Int J Mol Sci. 2020. PMID: 33203024 Free PMC article.
142 results