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Does the aromatic L-amino acid decarboxylase contribute to thyronamine biosynthesis?
Hoefig CS, Renko K, Piehl S, Scanlan TS, Bertoldi M, Opladen T, Hoffmann GF, Klein J, Blankenstein O, Schweizer U, Köhrle J. Hoefig CS, et al. Among authors: bertoldi m. Mol Cell Endocrinol. 2012 Feb 26;349(2):195-201. doi: 10.1016/j.mce.2011.10.024. Epub 2011 Oct 28. Mol Cell Endocrinol. 2012. PMID: 22061622
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
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.
Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22].
Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N. Himmelreich N, et al. Among authors: bertoldi m. Mol Genet Metab. 2021 Sep-Oct;134(1-2):216. doi: 10.1016/j.ymgme.2021.06.010. Epub 2021 Jul 7. Mol Genet Metab. 2021. PMID: 34244047 No abstract available.
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Bisello G, Kusmierska K, Verbeek MM, Sykut-Cegielska J, Willemsen MAAP, Wevers RA, Szymańska K, Poznanski J, Drozak J, Wertheim-Tysarowska K, Rygiel AM, Bertoldi M. Bisello G, et al. Among authors: bertoldi m. Cell Mol Life Sci. 2022 May 20;79(6):305. doi: 10.1007/s00018-022-04343-w. Cell Mol Life Sci. 2022. PMID: 35593933 Free PMC article.
143 results