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Page 1
Unravelling inclusion body myositis using a patient-derived fibroblast model.
Cantó-Santos J, Valls-Roca L, Tobías E, García-García FJ, Guitart-Mampel M, Esteve-Codina A, Martín-Mur B, Casado M, Artuch R, Solsona-Vilarrasa E, Fernandez-Checa JC, García-Ruiz C, Rentero C, Enrich C, Moreno-Lozano PJ, Milisenda JC, Cardellach F, Grau-Junyent JM, Garrabou G. Cantó-Santos J, et al. Among authors: artuch r. J Cachexia Sarcopenia Muscle. 2023 Apr;14(2):964-977. doi: 10.1002/jcsm.13178. Epub 2023 Mar 1. J Cachexia Sarcopenia Muscle. 2023. PMID: 36860172 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: artuch r. 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.
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: artuch r. 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.
Integrated Multi-Omics Analysis for Inferring Molecular Players in Inclusion Body Myositis.
Cantó-Santos J, Valls-Roca L, Tobías E, Oliva C, García-García FJ, Guitart-Mampel M, Andújar-Sánchez F, Esteve-Codina A, Martín-Mur B, Padrosa J, Aránega R, Moreno-Lozano PJ, Milisenda JC, Artuch R, Grau-Junyent JM, Garrabou G. Cantó-Santos J, et al. Among authors: artuch r. Antioxidants (Basel). 2023 Aug 19;12(8):1639. doi: 10.3390/antiox12081639. Antioxidants (Basel). 2023. PMID: 37627634 Free PMC article.
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
Muñoz-Pujol G, Ugarteburu O, Segur-Bailach E, Moliner S, Jurado S, Garrabou G, Guitart-Mampel M, García-Villoria J, Artuch R, Fons C, Ribes A, Tort F. Muñoz-Pujol G, et al. Among authors: artuch r. J Inherit Metab Dis. 2023 Nov;46(6):1029-1042. doi: 10.1002/jimd.12681. Epub 2023 Oct 3. J Inherit Metab Dis. 2023. PMID: 37718653
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.
Emperador S, Habbane M, López-Gallardo E, Del Rio A, Llobet L, Mateo J, Sanz-López AM, Fernández-García MJ, Sánchez-Tocino H, Benbunan-Ferreiro S, Calabuig-Goena M, Narvaez-Palazón C, Fernández-Vega B, González-Iglesias H, Urreizti R, Artuch R, Pacheu-Grau D, Bayona-Bafaluy P, Montoya J, Ruiz-Pesini E. Emperador S, et al. Among authors: artuch r. Orphanet J Rare Dis. 2024 Apr 6;19(1):148. doi: 10.1186/s13023-024-03165-2. Orphanet J Rare Dis. 2024. PMID: 38582886 Free PMC article.
A crowdsourcing database for the copy-number variation of the Spanish population.
López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A; CSVS Crowdsourcing Group; Peña-Chilet M, Dopazo J. López-López D, et al. Hum Genomics. 2023 Mar 9;17(1):20. doi: 10.1186/s40246-023-00466-8. Hum Genomics. 2023. PMID: 36894999 Free PMC article.
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Morales-Romero B, Muñoz-Pujol G, Artuch R, García-Cazorla A, O'Callaghan M, Sykut-Cegielska J, Campistol J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J, Tort F. Morales-Romero B, et al. Among authors: artuch r. Mol Genet Metab. 2024 Jun 6;142(3):108511. doi: 10.1016/j.ymgme.2024.108511. Online ahead of print. Mol Genet Metab. 2024. PMID: 38878498
Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter.
Rullo-Tubau J, Martinez-Molledo M, Bartoccioni P, Puch-Giner I, Arias Á, Saen-Oon S, Stephan-Otto Attolini C, Artuch R, Díaz L, Guallar V, Errasti-Murugarren E, Palacín M, Llorca O. Rullo-Tubau J, et al. Among authors: artuch r. Nat Commun. 2024 Apr 6;15(1):2986. doi: 10.1038/s41467-024-47385-3. Nat Commun. 2024. PMID: 38582862 Free PMC article.
329 results