Associated Papers
Primary Coenzyme Q10 Deficiency: An Update.
Mantle D et al.
Antioxidants (basel, Switzerland), 2023
PDSS1-Mediated Activation of CAMK2A-STAT3 Signaling Promotes Metastasis in Triple-Negative Breast Cancer.
Yu TJ et al.
Cancer Research, 2021
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness.
Nardecchia F et al.
Annals of Clinical and Translational Neurology, 2021
Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation sequencing era.
Berardo A et al.
Journal of Translational Genetics and Genomics, 2020
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Biochemical diagnosis of coenzyme q10 deficiency.
Yubero D et al.
Molecular Syndromology, 2014
The molecular genetics of coenzyme Q biosynthesis in health and disease.
Laredj LN et al.
Biochimie, 2014
Coenzyme Q10 deficiencies in neuromuscular diseases.
Artuch R et al.
Advances in Experimental Medicine and Biology, 2009
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
Mollet J et al.
The Journal of Clinical Investigation, 2007
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