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Page 1
ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency.
Vázquez-Fonseca L, Schaefer J, Navas-Enamorado I, Santos-Ocaña C, Hernández-Camacho JD, Guerra I, Cascajo MV, Sánchez-Cuesta A, Horvath Z, Siendones E, Jou C, Casado M, Gutiérrez P, Brea-Calvo G, López-Lluch G, Fernández-Ayala DJM, Cortés-Rodríguez AB, Rodríguez-Aguilera JC, Matté C, Ribes A, Prieto-Soler SY, Dominguez-Del-Toro E, Francesco AD, Aon MA, Bernier M, Salviati L, Artuch R, Cabo R, Jackson S, Navas P. Vázquez-Fonseca L, et al. Among authors: sanchez cuesta a. J Clin Med. 2019 Sep 2;8(9):1374. doi: 10.3390/jcm8091374. J Clin Med. 2019. PMID: 31480808 Free PMC article.
Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging.
Navas P, Cascajo MV, Alcázar-Fabra M, Hernández-Camacho JD, Sánchez-Cuesta A, Rodríguez ABC, Ballesteros-Simarro M, Arroyo-Luque A, Rodríguez-Aguilera JC, Fernández-Ayala DJM, Brea-Calvo G, López-Lluch G, Santos-Ocaña C. Navas P, et al. Among authors: sanchez cuesta a. Biofactors. 2021 Jul;47(4):551-569. doi: 10.1002/biof.1733. Epub 2021 Apr 20. Biofactors. 2021. PMID: 33878238 Review.
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch R; CoQ deficiency study group; Jou C, Jimenez-Mallebrera C, Nascimento A, Pérez-Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M, Brea-Calvo G. Yubero D, et al. Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30. Mitochondrion. 2016. PMID: 27374853
The mitochondrial phosphatase PPTC7 orchestrates mitochondrial metabolism regulating coenzyme Q10 biosynthesis.
González-Mariscal I, Martin-Montalvo A, Vazquez-Fonseca L, Pomares-Viciana T, Sánchez-Cuesta A, Fernández-Ayala DJ, Navas P, Santos-Ocana C. González-Mariscal I, et al. Among authors: sanchez cuesta a. Biochim Biophys Acta Bioenerg. 2018 Nov;1859(11):1235-1248. doi: 10.1016/j.bbabio.2018.09.369. Epub 2018 Sep 26. Biochim Biophys Acta Bioenerg. 2018. PMID: 30267671 Free article.
Design of High-Throughput Screening of Natural Extracts to Identify Molecules Bypassing Primary Coenzyme Q Deficiency in Saccharomyces cerevisiae.
Berenguel Hernández AM, de la Cruz M, Alcázar-Fabra M, Prieto-Rodríguez A, Sánchez-Cuesta A, Martin J, Tormo JR, Rodríguez-Aguilera JC, Cortés-Rodríguez AB, Navas P, Reyes F, Vicente F, Genilloud O, Santos-Ocaña C. Berenguel Hernández AM, et al. Among authors: sanchez cuesta a. SLAS Discov. 2020 Mar;25(3):299-309. doi: 10.1177/2472555219877185. Epub 2019 Nov 21. SLAS Discov. 2020. PMID: 31751168 Free article.
Inadequate control of thyroid hormones sensitizes to hepatocarcinogenesis and unhealthy aging.
López-Noriega L, Capilla-González V, Cobo-Vuilleumier N, Martin-Vazquez E, Lorenzo PI, Martinez-Force E, Soriano-Navarro M, García-Fernández M, Romero-Zerbo SY, Bermúdez-Silva FJ, Díaz-Contreras I, Sánchez-Cuesta A, Santos-Ocaña C, Hmadcha A, Soria B, Martín F, Gauthier BR, Martin-Montalvo A. López-Noriega L, et al. Among authors: sanchez cuesta a. Aging (Albany NY). 2019 Sep 13;11(18):7746-7779. doi: 10.18632/aging.102285. Epub 2019 Sep 13. Aging (Albany NY). 2019. PMID: 31518338 Free PMC article.
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: sanchez cuesta a. 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
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