Varaico: Literature-Extracted Genetic Variants

Gene:PDSS2
Variant:p.Q322*
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PDSS2

NM_020381.4:p.Q322*

Associated Papers

Coenzyme Q10 deficiency disrupts lipid metabolism by altering cholesterol homeostasis in neurons.

Pesini A et al.

Free Radical Biology & Medicine, 2025

Primary mitochondrial diseases: The intertwined pathophysiology of bioenergetic dysregulation, oxidative stress and neuroinflammation.

Aguilar K et al.

European Journal of Clinical Investigation, 2024

Cellular Models for Primary CoQ Deficiency Pathogenesis Study.

Santos-Ocaña C et al.

International Journal of Molecular Sciences, 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

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

Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.

Hughes BG et al.

Scientific Reports, 2017

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

Ziosi M et al.

Embo Molecular Medicine, 2017

Biochemical diagnosis of coenzyme q10 deficiency.

Yubero D et al.

Molecular Syndromology, 2014

Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency.

Quinzii CM et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008

Human CoQ10 deficiencies.

Quinzii CM et al.

Biofactors (oxford, England), 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."