Varaico: Literature-Extracted Genetic Variants

Gene:PDSS1
Variant:p.D308E
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PDSS1

NM_014317.5:p.D308E

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

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

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

Nuclear factors: roles related to mitochondrial deafness.

Luo LF et al.

Gene, 2013

Coenzyme Q10 deficiencies in neuromuscular diseases.

Artuch R et al.

Advances in Experimental Medicine and Biology, 2009

Human CoQ10 deficiencies.

Quinzii CM et al.

Biofactors (oxford, England), 2008

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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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."