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- W4309587776 endingPage "2308" @default.
- W4309587776 startingPage "2308" @default.
- W4309587776 abstract "Coenzyme Q (CoQ) is a vital lipid that functions as an electron carrier in the mitochondrial electron transport chain and as a membrane-soluble antioxidant. Deficiencies in CoQ lead to metabolic diseases with a wide range of clinical manifestations. There are currently few treatments that can slow or stop disease progression. Primary CoQ10 deficiency can arise from mutations in any of the COQ genes responsible for CoQ biosynthesis. While many mutations in these genes have been identified, the clinical significance of most of them remains unclear. Here we analyzed the structural and functional impact of 429 human missense single nucleotide variants (SNVs) that give rise to amino acid substitutions in the conserved and functional regions of human genes encoding a high molecular weight complex known as the CoQ synthome (or Complex Q), consisting of the COQ3–COQ7 and COQ9 gene products. Using structures of COQ polypeptides, close homologs, and AlphaFold models, we identified 115 SNVs that are potentially pathogenic. Further biochemical characterizations in model organisms such as Saccharomyces cerevisiae are required to validate the pathogenicity of the identified SNVs. Collectively, our results will provide a resource for clinicians during patient diagnosis and guide therapeutic efforts toward combating primary CoQ10 deficiency." @default.
- W4309587776 created "2022-11-28" @default.
- W4309587776 creator A5014372535 @default.
- W4309587776 creator A5016221112 @default.
- W4309587776 creator A5016694597 @default.
- W4309587776 creator A5048832650 @default.
- W4309587776 creator A5053230113 @default.
- W4309587776 creator A5070355060 @default.
- W4309587776 date "2022-11-22" @default.
- W4309587776 modified "2023-10-18" @default.
- W4309587776 title "Predicting and Understanding the Pathology of Single Nucleotide Variants in Human COQ Genes" @default.
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