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Page 1
The CoQH2/CoQ Ratio Serves as a Sensor of Respiratory Chain Efficiency.
Guarás A, Perales-Clemente E, Calvo E, Acín-Pérez R, Loureiro-Lopez M, Pujol C, Martínez-Carrascoso I, Nuñez E, García-Marqués F, Rodríguez-Hernández MA, Cortés A, Diaz F, Pérez-Martos A, Moraes CT, Fernández-Silva P, Trifunovic A, Navas P, Vazquez J, Enríquez JA. Guarás A, et al. Cell Rep. 2016 Apr 5;15(1):197-209. doi: 10.1016/j.celrep.2016.03.009. Epub 2016 Mar 24. Cell Rep. 2016. PMID: 27052170 Free article.
Supercomplex assembly determines electron flux in the mitochondrial electron transport chain.
Lapuente-Brun E, Moreno-Loshuertos R, Acín-Pérez R, Latorre-Pellicer A, Colás C, Balsa E, Perales-Clemente E, Quirós PM, Calvo E, Rodríguez-Hernández MA, Navas P, Cruz R, Carracedo Á, López-Otín C, Pérez-Martos A, Fernández-Silva P, Fernández-Vizarra E, Enríquez JA. Lapuente-Brun E, et al. Science. 2013 Jun 28;340(6140):1567-70. doi: 10.1126/science.1230381. Science. 2013. PMID: 23812712
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.
Asencio C, Rodríguez-Hernandez MA, Briones P, Montoya J, Cortés A, Emperador S, Gavilán A, Ruiz-Pesini E, Yubero D, Montero R, Pineda M, O'Callaghan MM, Alcázar-Fabra M, Salviati L, Artuch R, Navas P. Asencio C, et al. Eur J Hum Genet. 2016 Mar;24(3):367-72. doi: 10.1038/ejhg.2015.112. Epub 2015 May 27. Eur J Hum Genet. 2016. PMID: 26014431 Free PMC article.
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
Desbats MA, Vetro A, Limongelli I, Lunardi G, Casarin A, Doimo M, Spinazzi M, Angelini C, Cenacchi G, Burlina A, Rodriguez Hernandez MA, Chiandetti L, Clementi M, Trevisson E, Navas P, Zuffardi O, Salviati L. Desbats MA, et al. Eur J Hum Genet. 2015 Sep;23(9):1254-8. doi: 10.1038/ejhg.2014.277. Epub 2015 Jan 7. Eur J Hum Genet. 2015. PMID: 25564041 Free PMC article.
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, Doimo M, Cassina M, Agosto C, Desbats MA, Sartori G, Sacconi S, Memo L, Zuffardi O, Artuch R, Quinzii C, Dimauro S, Hirano M, Santos-Ocaña C, Navas P. Salviati L, et al. J Med Genet. 2012 Mar;49(3):187-91. doi: 10.1136/jmedgenet-2011-100394. J Med Genet. 2012. PMID: 22368301 Free PMC article.
[Molecular studies in Cuban patients with progressive external ophthalmoplegia].
Rodríguez-Hernández M, Hirano M, Arrieta T, Lestayo Z, Estrada R, Santiesteban R, Guerra-Badía R, Galarraga J, Gutierres J, Hechevarría E, Andreu A, Montoya J, DiMauro S. Rodríguez-Hernández M, et al. Rev Neurol. 2000 Jun 1-15;30(11):1001-5. Rev Neurol. 2000. PMID: 10904941 Spanish.
[Clinical manifestation and molecular identification of patients with Leber's hereditary optic neuropathy in a national reference center for neuro-ophthalmology in Cuba].
Santiesteban-Freixas R, Rodríguez-Hernández M, Mendoza-Santiesteban CE, Carrero-Salgado M, Francisco-Plasencia M, Méndez-Larramendi I, Vidal-Casalís S, Rivero-Reyes R, Hirano M. Santiesteban-Freixas R, et al. Rev Neurol. 1999 Sep 1-15;29(5):408-15. Rev Neurol. 1999. PMID: 10584242 Review. Spanish.
Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity.
Cabrera-Alarcon JL, Cruz R, Rosa-Moreno M, Latorre-Pellicer A, de Almeida SD; Scourge Cohort Group; Riancho JA, Rojas-Martinez A, Flores C, Lapunzina P, Sánchez-Cabo F, Carracedo Á, Enriquez JA. Cabrera-Alarcon JL, et al. Commun Biol. 2025 Jan 9;8(1):33. doi: 10.1038/s42003-024-07314-y. Commun Biol. 2025. PMID: 39789223 Free PMC article.
33 results