Associated Papers
Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia.
Qiu Y et al.
Annals of Clinical and Translational Neurology, 2024
COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.
Sait H et al.
Journal of Genetics, 2024
Axonal Charcot-Marie-Tooth disease due to COQ7 mutation: expanding the genetic and clinical spectrum.
Zhang XY et al.
Brain : a Journal of Neurology, 2023
Primary Coenzyme Q10 Deficiency: An Update.
Mantle D et al.
Antioxidants (basel, Switzerland), 2023
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Jacquier A et al.
Brain : a Journal of Neurology, 2023
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
Wongkittichote P et al.
Molecular Genetics and Metabolism, 2023
A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.
Sadr Z et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.
Smith IC et al.
Neurology. Genetics, 2023
Predicting and Understanding the Pathology of Single Nucleotide Variants in Human COQ Genes.
Wang S et al.
Antioxidants (basel, Switzerland), 2022
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options.
Wang Y et al.
Molecular Genetics and Metabolism Reports, 2022
Primary coenzyme Q10 nephropathy, a potentially treatable form of steroid-resistant nephrotic syndrome.
Tan W et al.
Pediatric Nephrology (berlin, Germany), 2021
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Minimal mitochondrial respiration is required to prevent cell death by inhibition of mTOR signaling in CoQ-deficient cells.
Wang Y et al.
Cell Death Discovery, 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
A fatal case of COQ7-associated primary coenzyme Q10 deficiency.
Kwong AK et al.
Jimd Reports, 2019
Bypassing human CoQ10 deficiency.
Herebian D et al.
Molecular Genetics and Metabolism, 2018
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.
Wang Y et al.
Journal of Cellular and Molecular Medicine, 2017
Coq7p relevant residues for protein activity and stability.
Busso C et al.
Biochimie, 2015
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
Freyer C et al.
Journal of Medical Genetics, 2015