Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

328 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
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.
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.
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
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.
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.
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.
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.
Oliva C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado M, Ormazabal A, Artuch R. Oliva C, et al. Among authors: artuch r. Clin Chem Lab Med. 2024 Mar 11. doi: 10.1515/cclm-2023-1291. Online ahead of print. Clin Chem Lab Med. 2024. PMID: 38456798
328 results