Associated Papers
Gene therapy and mRNA drugs approach for mitochondrial OXPHOS deficiencies.
Garone C et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
SCN3A-related neurodevelopmental disorder: Clinical case reports and biophysical characterization.
Ghovanloo MR et al.
Channels (austin, Tex.), 2025
Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.
Schierbaum L et al.
Movement Disorders Clinical Practice, 2024
Primary Coenzyme Q10 Deficiency: An Update.
Mantle D et al.
Antioxidants (basel, Switzerland), 2023
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Multi-Omics Characterization of the Spontaneous Mesenchymal-Epithelial Transition in the PMC42 Breast Cancer Cell Lines.
Bhatia S et al.
Journal of Clinical Medicine, 2019
31430931 (PubMed )
Supplement: jcm-08-01253-s001.zip › Supplementary_Info › Suppl_Tables.xlsx › S5.ET_SNP_deleterious
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
29255295 (PubMed )
Supplement: 41598_2017_17564_MOESM3_ESM.xlsx › COQ4
Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene.
Romero-Moya D et al.
Stem Cell Research, 2017
Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency.
Romero-Moya D et al.
Stem Cells (dayton, Ohio), 2017
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D et al.
Mitochondrion, 2016
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A082-01A.domain
Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.
Buján N et al.
Journal of Inherited Metabolic Disease, 2014
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