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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: espino guarch 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.
Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss.
Espino Guarch M, Font-Llitjós M, Murillo-Cuesta S, Errasti-Murugarren E, Celaya AM, Girotto G, Vuckovic D, Mezzavilla M, Vilches C, Bodoy S, Sahún I, González L, Prat E, Zorzano A, Dierssen M, Varela-Nieto I, Gasparini P, Palacín M, Nunes V. Espino Guarch M, et al. Elife. 2018 Jan 22;7:e31511. doi: 10.7554/eLife.31511. Elife. 2018. PMID: 29355479 Free PMC article.
Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients.
Alkowari M, Espino-Guarch M, Daas S, Abdelrahman D, Hasan W, Krishnamoorthy N, Sathappan A, Sheehan P, Panhuys NV, The Qatar Genome Program Research Consortium, Estivill X. Alkowari M, et al. Among authors: espino guarch m. Int J Mol Sci. 2022 Mar 21;23(6):3369. doi: 10.3390/ijms23063369. Int J Mol Sci. 2022. PMID: 35328790 Free PMC article.
Applications of Genome-Editing Technologies for Type 1 Diabetes.
El Nahas R, Al-Aghbar MA, Herrero L, van Panhuys N, Espino-Guarch M. El Nahas R, et al. Among authors: espino guarch m. Int J Mol Sci. 2023 Dec 26;25(1):344. doi: 10.3390/ijms25010344. Int J Mol Sci. 2023. PMID: 38203514 Free PMC article. Review.