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Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Cascajo-Almenara MV, Juliá-Palacios N, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart J, Nascimento A, Ortez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero D, García-Cazorla A, Pandey UB, Santos-Ocaña C, Artuch R. Cascajo-Almenara MV, et al. Among authors: santos ocana c. Eur J Hum Genet. 2024 Apr;32(4):426-434. doi: 10.1038/s41431-023-01526-2. Epub 2024 Feb 5. Eur J Hum Genet. 2024. PMID: 38316953
Structural basis of mitochondrial dysfunction in response to cytochrome c phosphorylation at tyrosine 48.
Moreno-Beltrán B, Guerra-Castellano A, Díaz-Quintana A, Del Conte R, García-Mauriño SM, Díaz-Moreno S, González-Arzola K, Santos-Ocaña C, Velázquez-Campoy A, De la Rosa MA, Turano P, Díaz-Moreno I. Moreno-Beltrán B, et al. Proc Natl Acad Sci U S A. 2017 Apr 11;114(15):E3041-E3050. doi: 10.1073/pnas.1618008114. Epub 2017 Mar 27. Proc Natl Acad Sci U S A. 2017. PMID: 28348229 Free PMC article.
Plasma membrane redox system protects cells against oxidative stress.
Rodríguez-Aguilera JC, López-Lluch G, Santos-Ocaña C, Villalba JM, Gómez-Díaz C, Navas P. Rodríguez-Aguilera JC, et al. Redox Rep. 2000;5(2-3):148-50. doi: 10.1179/135100000101535528. Redox Rep. 2000. PMID: 10939299 Free article. No abstract available.
44 results