Associated Papers
Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency.
Alcázar-Fabra M et al.
Molecular Genetics and Metabolism Reports, 2025
Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.
Schierbaum L et al.
Movement Disorders Clinical Practice, 2024
The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review.
Pan P et al.
Frontiers in Pediatrics, 2024
Epilepsy and Coenzyme Q10 deficiency with COQ4 variants.
Hsu CJ et al.
Epilepsy & Behavior : E&b, 2023
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Laugwitz L et al.
Journal of Medical Genetics, 2022
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment.
Xie J et al.
Frontiers in Genetics, 2021
Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism.
González-García P et al.
Human Molecular Genetics, 2020
32975579 (PubMed )
Supplement: supplemental_material_gonzalez-garcia_hmg2020_ddaa214.pdf
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
Yu MH et al.
Npj Genomic Medicine, 2019
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
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Brea-Calvo G et al.
American Journal of Human Genetics, 2015
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