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Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.
Ferrer-Cortès X, Font A, Bujan N, Navarro-Sastre A, Matalonga L, Arranz JA, Riudor E, del Toro M, Garcia-Cazorla A, Campistol J, Briones P, Ribes A, Tort F. Ferrer-Cortès X, et al. Among authors: font a. J Inherit Metab Dis. 2013 Sep;36(5):841-7. doi: 10.1007/s10545-012-9565-z. Epub 2012 Nov 22. J Inherit Metab Dis. 2013. PMID: 23179554
PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.
Quintana E, Mayr JA, García Silva MT, Font A, Tortoledo MA, Moliner S, Ozaez L, Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W, Briones P. Quintana E, et al. Among authors: font a. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S339-43. doi: 10.1007/s10545-009-1343-1. Epub 2009 Nov 9. J Inherit Metab Dis. 2009. PMID: 19924563
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R. Navarro-Sastre A, et al. Among authors: font a. Am J Hum Genet. 2011 Nov 11;89(5):656-67. doi: 10.1016/j.ajhg.2011.10.005. Am J Hum Genet. 2011. PMID: 22077971 Free PMC article.
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
Tort F, Del Toro M, Lissens W, Montoya J, Fernàndez-Burriel M, Font A, Buján N, Navarro-Sastre A, López-Gallardo E, Arranz JA, Riudor E, Briones P, Ribes A. Tort F, et al. Among authors: font a. Clin Genet. 2011 Sep;80(3):297-300. doi: 10.1111/j.1399-0004.2011.01650.x. Clin Genet. 2011. PMID: 21815885 No abstract available.
Exposure to nanoplastics and nanomaterials either single and combined affects the gill-associated microbiome of the Antarctic soft-shelled clam Laternula elliptica.
Rondon R, Cosseau C, Bergami E, Cárdenas CA, Pérez-Toledo C, Alvarez D, Aldridge J, Font A, Garrido I, Santa Cruz F, Perrois G, Balbi T, Corsi I, González-Aravena M. Rondon R, et al. Among authors: font a. Mar Environ Res. 2024 May 6;198:106539. doi: 10.1016/j.marenvres.2024.106539. Online ahead of print. Mar Environ Res. 2024. PMID: 38718522
Air quality on UK diesel and hybrid trains.
Font A, Hedges M, Han Y, Lim S, Bos B, Tremper AH, Green DC. Font A, et al. Environ Int. 2024 May;187:108682. doi: 10.1016/j.envint.2024.108682. Epub 2024 Apr 20. Environ Int. 2024. PMID: 38669721 Free article.
Development and Independent Validation of a Prognostic Gene Expression Signature Based on RB1, PTEN, and TP53 in Metastatic Hormone-sensitive Prostate Cancer Patients.
Jiménez N, Garcia de Herreros M, Reig Ò, Marín-Aguilera M, Aversa C, Ferrer-Mileo L, García-Esteve S, Rodríguez-Carunchio L, Trias I, Font A, Rodriguez-Vida A, Climent MÁ, Cros S, Chirivella I, Domènech M, Figols M, Carles J, Suárez C, Herrero Rivera D, González-Billalabeitia E, Cívico C, Sala-González N, Ruiz de Porras V, Ribal MJ, Prat A, Mellado B. Jiménez N, et al. Among authors: font a. Eur Urol Oncol. 2024 Mar 1:S2588-9311(24)00025-7. doi: 10.1016/j.euo.2023.12.012. Online ahead of print. Eur Urol Oncol. 2024. PMID: 38429210 Free article.
215 results