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Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.
Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M. Emmanuele V, et al. Arch Neurol. 2012 Aug;69(8):978-83. doi: 10.1001/archneurol.2012.206. Arch Neurol. 2012. PMID: 22490322 Free PMC article. Review.
Coenzyme Q(10) (CoQ(10)) deficiency has been associated with 5 major clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy. Primary CoQ(10) deficiency is due to defects in CoQ(10) biosynthesis, …
Coenzyme Q(10) (CoQ(10)) deficiency has been associated with 5 major clinical phenotypes: encephalomyopathy, severe infantile multisystemic …
Molecular diagnosis of coenzyme Q10 deficiency.
Yubero D, Montero R, Armstrong J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P, Artuch R. Yubero D, et al. Expert Rev Mol Diagn. 2015;15(8):1049-59. doi: 10.1586/14737159.2015.1062727. Epub 2015 Jul 4. Expert Rev Mol Diagn. 2015. PMID: 26144946 Review.
Coenzyme Q10 (CoQ) deficiency syndromes comprise a growing number of neurological and extraneurological disorders. Primary-genetic but also secondary CoQ deficiencies have been reported. ...The potential treatability of CoQ deficiency strongly supports the necessity of a r …
Coenzyme Q10 (CoQ) deficiency syndromes comprise a growing number of neurological and extraneurological disorders. Primary-genetic bu …
Coenzyme Q biosynthesis in health and disease.
Acosta MJ, Vazquez Fonseca L, Desbats MA, Cerqua C, Zordan R, Trevisson E, Salviati L. Acosta MJ, et al. Biochim Biophys Acta. 2016 Aug;1857(8):1079-1085. doi: 10.1016/j.bbabio.2016.03.036. Epub 2016 Apr 7. Biochim Biophys Acta. 2016. PMID: 27060254 Free article. Review.
Two genes appear to have a regulatory role: COQ8 (and its human counterparts ADCK3 and ADCK4) encodes a putative kinase, while PTC7 encodes a phosphatase required for the activation of Coq7. Mutations in human COQ genes cause primary CoQ(10) deficiency, a clinically hetero …
Two genes appear to have a regulatory role: COQ8 (and its human counterparts ADCK3 and ADCK4) encodes a putative kinase, while PTC7 encodes …
Blood pressure lowering efficacy of coenzyme Q10 for primary hypertension.
Ho MJ, Bellusci A, Wright JM. Ho MJ, et al. Cochrane Database Syst Rev. 2009 Oct 7;(4):CD007435. doi: 10.1002/14651858.CD007435.pub2. Cochrane Database Syst Rev. 2009. PMID: 19821418 Updated. Review.
BACKGROUND: Studies have shown that coenzyme Q10 deficiency is associated with cardiovascular disease. ...Treatment with coenzyme Q10 in subjects with systolic BP (SBP) > 140 mmHg or diastolic BP (DBP) > 90 mmHg resulted in mean decreases in SBP of 11 m …
BACKGROUND: Studies have shown that coenzyme Q10 deficiency is associated with cardiovascular disease. ...Treatment wit …
[Clinical analysis of one infantile nephrotic syndrome caused by COQ2 gene mutation and literature review].
Xu K, Mao XY, Yao Y, Cheng H, Zhang XJ. Xu K, et al. Zhonghua Er Ke Za Zhi. 2018 Sep 2;56(9):662-666. doi: 10.3760/cma.j.issn.0578-1310.2018.09.006. Zhonghua Er Ke Za Zhi. 2018. PMID: 30180404 Review. Chinese.
Related literature retrieved from PubMed, CNKI and Wanfang databases were searched to date (up to July 2018) with "COQ2 gene" or "primary coenzyme Q10 deficiency" and "nephrotic syndrome" or "nephropathy" as key words. ...Their age at onset ranged from …
Related literature retrieved from PubMed, CNKI and Wanfang databases were searched to date (up to July 2018) with "COQ2 gene" or "primary …