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The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuria.
Mayayo-Vallverdú C, López de Heredia M, Prat E, González L, Espino Guarch M, Vilches C, Muñoz L, Asensi MA, Serra C, Llebaria A, Casado M, Artuch R, Garrabou G, Garcia-Roves PM, Pallardó FV, Nunes V. Mayayo-Vallverdú C, et al. Among authors: lopez de heredia m. Redox Biol. 2023 Aug;64:102801. doi: 10.1016/j.redox.2023.102801. Epub 2023 Jun 26. Redox Biol. 2023. PMID: 37418888 Free PMC article.
Digenic Inheritance in Cystinuria Mouse Model.
Espino M, Font-Llitjós M, Vilches C, Salido E, Prat E, López de Heredia M, Palacín M, Nunes V. Espino M, et al. Among authors: lopez de heredia m. PLoS One. 2015 Sep 11;10(9):e0137277. doi: 10.1371/journal.pone.0137277. eCollection 2015. PLoS One. 2015. PMID: 26359869 Free PMC article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Among authors: lopez de heredia m. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.
Lee EM, Verma M, Palaniappan N, Pope EM, Lee S, Blacher L, Neerumalla P, An W, Campbell T, Brown C, Hurst S, Marshall B, Hershey T, Nunes V, López de Heredia M, Urano F. Lee EM, et al. Among authors: lopez de heredia m. Front Genet. 2023 Jun 21;14:1198171. doi: 10.3389/fgene.2023.1198171. eCollection 2023. Front Genet. 2023. PMID: 37415600 Free PMC article.
Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.
Mayayo-Vallverdú C, Prat E, Vecino-Pérez M, González L, Gràcia-Garcia S, San Miguel L, Lopera N, Arias A, Artuch R, López de Heredia M, Torrecilla C, Rousaud-Barón F, Angerri O, Errasti-Murugarren E, Nunes V. Mayayo-Vallverdú C, et al. Among authors: lopez de heredia m. Int J Mol Sci. 2023 Dec 5;24(24):17140. doi: 10.3390/ijms242417140. Int J Mol Sci. 2023. PMID: 38138969 Free PMC article.
Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.
Duarri A, Lopez de Heredia M, Capdevila-Nortes X, Ridder MC, Montolio M, López-Hernández T, Boor I, Lien CF, Hagemann T, Messing A, Gorecki DC, Scheper GC, Martínez A, Nunes V, van der Knaap MS, Estévez R. Duarri A, et al. Among authors: lopez de heredia m, lopez hernandez t. Neurobiol Dis. 2011 Jul;43(1):228-38. doi: 10.1016/j.nbd.2011.03.015. Epub 2011 Apr 3. Neurobiol Dis. 2011. PMID: 21440627 Free PMC article.
Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.
Capdevila-Nortes X, López-Hernández T, Apaja PM, López de Heredia M, Sirisi S, Callejo G, Arnedo T, Nunes V, Lukacs GL, Gasull X, Estévez R. Capdevila-Nortes X, et al. Among authors: lopez de heredia m, lopez hernandez t. Hum Mol Genet. 2013 Nov 1;22(21):4405-16. doi: 10.1093/hmg/ddt290. Epub 2013 Jun 20. Hum Mol Genet. 2013. PMID: 23793458
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