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Page 1
Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family.
Navarro-Fernández J, Eugenia de la Morena-Barrio M, Martínez-Alonso E, Dybedal I, Toderici M, Bohdan N, Miñano A, Heimdal K, Abildgaard U, Martínez-Menárguez JÁ, Corral J, Vicente V. Navarro-Fernández J, et al. Among authors: toderici m. Oncotarget. 2018 Sep 4;9(69):33202-33214. doi: 10.18632/oncotarget.26059. eCollection 2018 Sep 4. Oncotarget. 2018. PMID: 30237862 Free PMC article.
High levels of latent antithrombin in plasma from patients with antithrombin deficiency.
de la Morena-Barrio M, Sandoval E, Llamas P, Wypasek E, Toderici M, Navarro-Fernández J, Rodríguez-Alen A, Revilla N, López-Gálvez R, Miñano A, Padilla J, de la Morena-Barrio B, Cuesta J, Corral J, Vicente V. de la Morena-Barrio M, et al. Among authors: toderici m. Thromb Haemost. 2017 May 3;117(5):880-888. doi: 10.1160/TH16-11-0866. Epub 2017 Feb 23. Thromb Haemost. 2017. PMID: 28229161
ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.
de la Morena-Barrio ME, Sabater M, de la Morena-Barrio B, Ruhaak RL, Miñano A, Padilla J, Toderici M, Roldán V, Gimeno JR, Vicente V, Corral J. de la Morena-Barrio ME, et al. Among authors: toderici m. Mol Genet Genomic Med. 2020 Aug;8(8):e1304. doi: 10.1002/mgg3.1304. Epub 2020 Jun 12. Mol Genet Genomic Med. 2020. PMID: 32530140 Free PMC article.
Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.
Bravo-Pérez C, Toderici M, Chambers JE, Martínez-Menárguez JA, Garrido-Rodriguez P, Pérez-Sanchez H, de la Morena-Barrio B, Padilla J, Miñano A, Cifuentes-Riquelme R, Vicente V, Lozano ML, Marciniak SJ, de la Morena-Barrio ME, Corral J. Bravo-Pérez C, et al. Among authors: toderici m. JCI Insight. 2022 Oct 10;7(19):e161430. doi: 10.1172/jci.insight.161430. JCI Insight. 2022. PMID: 36214221 Free PMC article.
Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.
de la Morena-Barrio ME, Martínez-Martínez I, de Cos C, Wypasek E, Roldán V, Undas A, van Scherpenzeel M, Lefeber DJ, Toderici M, Sevivas T, España F, Jaeken J, Corral J, Vicente V. de la Morena-Barrio ME, et al. Among authors: toderici m. J Thromb Haemost. 2016 Aug;14(8):1549-60. doi: 10.1111/jth.13372. Epub 2016 Jun 29. J Thromb Haemost. 2016. PMID: 27214821 Free article.