| http://purl.uniprot.org/citations/35456968 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/35456968 | http://www.w3.org/2000/01/rdf-schema#comment | "Cytochrome c oxidase (COX), a multimeric protein complex, is the final electron acceptor in the mitochondrial electron transfer chain. Primary COX deficiency, caused by mutations in either mitochondrial DNA or nuclear-encoded genes, is a heterogenous group of mitochondrial diseases with a wide range of presentations, ranging from fatal infantile to subtler. We previously reported a patient with primary COX deficiency due to a pathogenic variant in COX4I1 (encoding the common isoform of COX subunit 4, COX4-1), who presented with bone marrow failure, genomic instability, and short stature, mimicking Fanconi anemia (FA). In the present study, we demonstrated that accumulative DNA damage coincided primarily with proliferative cells in the patient's fibroblasts and in COX4i1 knockdown cells. Expression analysis implicated a reduction in DNA damage response pathways, which was verified by demonstrating impaired recovery from genotoxic insult and decreased DNA repair. The premature senescence of the COX4-1-deficient cells prevented us from undertaking additional studies; nevertheless, taken together, our results indicate replicative stress and impaired nuclear DNA damage response in COX4-1 deficiency. Interestingly, our in vitro findings recapitulated the patient's presentation and present status."xsd:string |
| http://purl.uniprot.org/citations/35456968 | http://purl.org/dc/terms/identifier | "doi:10.3390/ijms23084149"xsd:string |
| http://purl.uniprot.org/citations/35456968 | http://purl.uniprot.org/core/author | "Miller C."xsd:string |
| http://purl.uniprot.org/citations/35456968 | http://purl.uniprot.org/core/author | "Saada A."xsd:string |
| http://purl.uniprot.org/citations/35456968 | http://purl.uniprot.org/core/author | "Keller G."xsd:string |
| http://purl.uniprot.org/citations/35456968 | http://purl.uniprot.org/core/author | "Abu-Libdeh B."xsd:string |
| http://purl.uniprot.org/citations/35456968 | http://purl.uniprot.org/core/author | "Douiev L."xsd:string |
| http://purl.uniprot.org/citations/35456968 | http://purl.uniprot.org/core/author | "Benyamini H."xsd:string |
| http://purl.uniprot.org/citations/35456968 | http://purl.uniprot.org/core/date | "2022"xsd:gYear |
| http://purl.uniprot.org/citations/35456968 | http://purl.uniprot.org/core/name | "Int J Mol Sci"xsd:string |
| http://purl.uniprot.org/citations/35456968 | http://purl.uniprot.org/core/pages | "4149"xsd:string |
| http://purl.uniprot.org/citations/35456968 | http://purl.uniprot.org/core/title | "Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency."xsd:string |
| http://purl.uniprot.org/citations/35456968 | http://purl.uniprot.org/core/volume | "23"xsd:string |
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