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

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

Abstract 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 isolate...

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Main Authors: Alba Signes, Raffaele Cerutti, Anna S Dickson, Cristiane Benincá, Elizabeth C Hinchy, Daniele Ghezzi, Rosalba Carrozzo, Enrico Bertini, Michael P Murphy, James A Nathan, Carlo Viscomi, Erika Fernandez‐Vizarra, Massimo Zeviani
Format: Article
Language:English
Published: Springer Nature 2018-12-01
Series:EMBO Molecular Medicine
Subjects:
APOPT1‐COA8
cytochrome c oxidase
mitochondrial encephalopathy
proteasome–ubiquitin system
reactive oxygen species
Online Access:https://doi.org/10.15252/emmm.201809582
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https://doi.org/10.15252/emmm.201809582

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