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Proteostasis regulators as potential rescuers of PMM2 activity.
Vilas A, Yuste-Checa P, Gallego D, Desviat LR, Ugarte M, Pérez-Cerda C, Gámez A, Pérez B. Vilas A, et al. Among authors: gallego d. Biochim Biophys Acta Mol Basis Dis. 2020 Jul 1;1866(7):165777. doi: 10.1016/j.bbadis.2020.165777. Epub 2020 Mar 25. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32222543 Free article.
New and potential strategies for the treatment of PMM2-CDG.
Gámez A, Serrano M, Gallego D, Vilas A, Pérez B. Gámez A, et al. Among authors: gallego d. Biochim Biophys Acta Gen Subj. 2020 Nov;1864(11):129686. doi: 10.1016/j.bbagen.2020.129686. Epub 2020 Jul 23. Biochim Biophys Acta Gen Subj. 2020. PMID: 32712172 Review.
Exploring miRNA-target gene pair detection in disease with coRmiT.
Cordoba-Caballero J, Perkins JR, García-Criado F, Gallego D, Navarro-Sánchez A, Moreno-Estellés M, Garcés C, Bonet F, Romá-Mateo C, Toro R, Perez B, Sanz P, Kohl M, Rojano E, Seoane P, Ranea JAG. Cordoba-Caballero J, et al. Among authors: gallego d. Brief Bioinform. 2024 Jan 22;25(2):bbae060. doi: 10.1093/bib/bbae060. Brief Bioinform. 2024. PMID: 38436559 Free PMC article.
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol J, Artuch R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A, Pérez B. Gallego D, et al. Hum Mutat. 2020 Jul;41(7):1329-1338. doi: 10.1002/humu.24026. Epub 2020 Apr 30. Hum Mutat. 2020. PMID: 32333439 Free article.
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Soriano-Sexto A, Gallego D, Leal F, Castejón-Fernández N, Navarrete R, Alcaide P, Couce ML, Martín-Hernández E, Quijada-Fraile P, Peña-Quintana L, Yahyaoui R, Correcher P, Ugarte M, Rodríguez-Pombo P, Pérez B. Soriano-Sexto A, et al. Among authors: gallego d. Int J Mol Sci. 2022 Oct 25;23(21):12850. doi: 10.3390/ijms232112850. Int J Mol Sci. 2022. PMID: 36361642 Free PMC article.
130 results