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Page 1
Bypassing human CoQ10 deficiency.
Herebian D, López LC, Distelmaier F. Herebian D, et al. Among authors: lopez lc. Mol Genet Metab. 2018 Mar;123(3):289-291. doi: 10.1016/j.ymgme.2017.12.008. Epub 2017 Dec 9. Mol Genet Metab. 2018. PMID: 29246431
Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency.
García-Corzo L, Luna-Sánchez M, Doerrier C, García JA, Guarás A, Acín-Pérez R, Bullejos-Peregrín J, López A, Escames G, Enríquez JA, Acuña-Castroviejo D, López LC. García-Corzo L, et al. Among authors: lopez a, lopez lc. Hum Mol Genet. 2013 Mar 15;22(6):1233-48. doi: 10.1093/hmg/dds530. Epub 2012 Dec 18. Hum Mol Genet. 2013. PMID: 23255162
Ubiquinol-10 ameliorates mitochondrial encephalopathy associated with CoQ deficiency.
García-Corzo L, Luna-Sánchez M, Doerrier C, Ortiz F, Escames G, Acuña-Castroviejo D, López LC. García-Corzo L, et al. Among authors: lopez lc. Biochim Biophys Acta. 2014 Jul;1842(7):893-901. doi: 10.1016/j.bbadis.2014.02.008. Epub 2014 Feb 24. Biochim Biophys Acta. 2014. PMID: 24576561 Free article.
CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.
Luna-Sánchez M, Hidalgo-Gutiérrez A, Hildebrandt TM, Chaves-Serrano J, Barriocanal-Casado E, Santos-Fandila Á, Romero M, Sayed RK, Duarte J, Prokisch H, Schuelke M, Distelmaier F, Escames G, Acuña-Castroviejo D, López LC. Luna-Sánchez M, et al. Among authors: lopez lc. EMBO Mol Med. 2017 Jan;9(1):78-95. doi: 10.15252/emmm.201606345. EMBO Mol Med. 2017. PMID: 27856619 Free PMC article.
Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.
Herebian D, Seibt A, Smits SHJ, Bünning G, Freyer C, Prokisch H, Karall D, Wredenberg A, Wedell A, López LC, Mayatepek E, Distelmaier F. Herebian D, et al. Among authors: lopez lc. Mol Genet Metab. 2017 Jul;121(3):216-223. doi: 10.1016/j.ymgme.2017.05.012. Epub 2017 May 20. Mol Genet Metab. 2017. PMID: 28552678
CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway.
Kleiner G, Barca E, Ziosi M, Emmanuele V, Xu Y, Hidalgo-Gutierrez A, Qiao C, Tadesse S, Area-Gomez E, Lopez LC, Quinzii CM. Kleiner G, et al. Among authors: lopez lc. Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3708-3722. doi: 10.1016/j.bbadis.2018.09.002. Epub 2018 Sep 6. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 30251690 Free PMC article.
β-RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9R239X mice.
Hidalgo-Gutiérrez A, Barriocanal-Casado E, Bakkali M, Díaz-Casado ME, Sánchez-Maldonado L, Romero M, Sayed RK, Prehn C, Escames G, Duarte J, Acuña-Castroviejo D, López LC. Hidalgo-Gutiérrez A, et al. Among authors: lopez lc. EMBO Mol Med. 2019 Jan;11(1):e9466. doi: 10.15252/emmm.201809466. EMBO Mol Med. 2019. PMID: 30482867 Free PMC article.
Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism.
González-García P, Hidalgo-Gutiérrez A, Mascaraque C, Barriocanal-Casado E, Bakkali M, Ziosi M, Abdihankyzy UB, Sánchez-Hernández S, Escames G, Prokisch H, Martín F, Quinzii CM, López LC. González-García P, et al. Among authors: lopez lc. Hum Mol Genet. 2020 Nov 25;29(19):3296-3311. doi: 10.1093/hmg/ddaa214. Hum Mol Genet. 2020. PMID: 32975579 Free PMC article.
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.
Monfrini E, Pesini A, Biella F, Sobreira CFR, Emmanuele V, Brescia G, Lopez LC, Tadesse S, Hirano M, Comi GP, Quinzii CM, Di Fonzo A. Monfrini E, et al. Among authors: lopez lc. Neurol Genet. 2023 Mar 14;9(2):e200058. doi: 10.1212/NXG.0000000000200058. eCollection 2023 Apr. Neurol Genet. 2023. PMID: 37090936 Free PMC article.
165 results