Article
Mitochondrial COX4-1 deficiency leads to impaired nuclear DNA damage response resulting in proliferation deficits and premature senescence
2021-11-04
Abstract excerpt
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 defici...
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Identifiers and source
- Literature Corpus work
- ab50efc1-d865-531b-b26c-e32cf008161d
- DOI
- 10.21203/rs.3.rs-1026650/v1
