| http://purl.uniprot.org/citations/33672589 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/33672589 | http://www.w3.org/2000/01/rdf-schema#comment | "Cytochrome-c-oxidase (COX) subunit 4 (COX4) plays important roles in the function, assembly and regulation of COX (mitochondrial respiratory complex 4), the terminal electron acceptor of the oxidative phosphorylation (OXPHOS) system. The principal COX4 isoform, COX4-1, is expressed in all tissues, whereas COX4-2 is mainly expressed in the lungs, or under hypoxia and other stress conditions. We have previously described a patient with a COX4-1 defect with a relatively mild presentation compared to other primary COX deficiencies, and hypothesized that this could be the result of a compensatory upregulation of COX4-2. To this end, COX4-1 was downregulated by shRNAs in human foreskin fibroblasts (HFF) and compared to the patient's cells. COX4-1, COX4-2 and HIF-1α were detected by immunocytochemistry. The mRNA transcripts of both COX4 isoforms and HIF-1 target genes were quantified by RT-qPCR. COX activity and OXPHOS function were measured by enzymatic and oxygen consumption assays, respectively. Pathways were analyzed by CEL-Seq2 and by RT-qPCR. We demonstrated elevated COX4-2 levels in the COX4-1-deficient cells, with a concomitant HIF-1α stabilization, nuclear localization and upregulation of the hypoxia and glycolysis pathways. We suggest that COX4-2 and HIF-1α are upregulated also in normoxia as a compensatory mechanism in COX4-1 deficiency."xsd:string |
| http://purl.uniprot.org/citations/33672589 | http://purl.org/dc/terms/identifier | "doi:10.3390/cells10020452"xsd:string |
| http://purl.uniprot.org/citations/33672589 | http://purl.uniprot.org/core/author | "Miller C."xsd:string |
| http://purl.uniprot.org/citations/33672589 | http://purl.uniprot.org/core/author | "Saada A."xsd:string |
| http://purl.uniprot.org/citations/33672589 | http://purl.uniprot.org/core/author | "Abu-Libdeh B."xsd:string |
| http://purl.uniprot.org/citations/33672589 | http://purl.uniprot.org/core/author | "Douiev L."xsd:string |
| http://purl.uniprot.org/citations/33672589 | http://purl.uniprot.org/core/author | "Benyamini H."xsd:string |
| http://purl.uniprot.org/citations/33672589 | http://purl.uniprot.org/core/author | "Ruppo S."xsd:string |
| http://purl.uniprot.org/citations/33672589 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/33672589 | http://purl.uniprot.org/core/name | "Cells"xsd:string |
| http://purl.uniprot.org/citations/33672589 | http://purl.uniprot.org/core/pages | "452"xsd:string |
| http://purl.uniprot.org/citations/33672589 | http://purl.uniprot.org/core/title | "Upregulation of COX4-2 via HIF-1alpha in Mitochondrial COX4-1 Deficiency."xsd:string |
| http://purl.uniprot.org/citations/33672589 | http://purl.uniprot.org/core/volume | "10"xsd:string |
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