APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

Loss‐of‐function mutations in APOPT1, a gene exclusively found in higher eukaryotes, cause a characteristic type of cavitating leukoencephalopathy associated with mitochondrial cytochrome c oxidase (COX) deficiency. Although the genetic association of APOPT1 pathogenic variants with isolated COX def...

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Veröffentlicht in:EMBO Mol Med
Hauptverfasser: Signes, Alba, Cerutti, Raffaele, Dickson, Anna S, Benincá, Cristiane, Hinchy, Elizabeth C, Ghezzi, Daniele, Carrozzo, Rosalba, Bertini, Enrico, Murphy, Michael P, Nathan, James A, Viscomi, Carlo, Fernandez‐Vizarra, Erika, Zeviani, Massimo
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2018
Schlagworte:
Research Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6328941/
https://ncbi.nlm.nih.gov/pubmed/30552096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201809582
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