ArticleThe EMBO journal2012
Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly.
Article in The EMBO journal, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed, 91 citations in OpenAlex.
- Structural basis for prohibitin-mediated regulation of mitochondrial m-AAA protease.Nature communications · 2026Article
- Mitochondrial translation is the primary determinant of secondary mitochondrial complex I deficiencies.iScience · 2024Article
- Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.Molecular neurobiology · 2024Review
- Mitochondrial protein synthesis quality control.Human molecular genetics · 2024Review
- MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.Brain : a journal of neurology · 2023Article
- Respiratory Complex I dysfunction in cancer: from a maze of cellular adaptive responses to potential therapeutic strategies.The FEBS journal · 2022Review
- Regulation of mitochondrial proteostasis by the proton gradient.The EMBO journal · 2022Article
- Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis.Human molecular genetics · 2022Article
- Loss of COX4I1 Leads to Combined Respiratory Chain Deficiency and Impaired Mitochondrial Protein Synthesis.Cells · 2021Article
- Active RNA interference in mitochondria.Cell research · 2021Article
- Quality control of the mitochondrial proteome.Nature reviews. Molecular cell biology · 2021Review
- Hypoxia Promotes Mitochondrial Complex I Abundance via HIF-1α in Complex III and Complex IV Eficient Cells.Cells · 2020Article
- Multiple pathways coordinate assembly of human mitochondrial complex IV and stabilization of respiratory supercomplexes.The EMBO journal · 2020Article
- A salvage pathway maintains highly functional respiratory complex I.Nature communications · 2020Article
- Fine-tuning of the respiratory complexes stability and supercomplexes assembly in cells defective of complex III.Biochimica et biophysica acta. Bioenergetics · 2020Article
- Global Proteome ofInternational journal of molecular sciences · 2019Article
- Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.Journal of medical genetics · 2019Article
- Mitochondrial Proteolysis and Metabolic Control.Cold Spring Harbor perspectives in biology · 2019Review
- Mitochondrial stress response triggered by defects in protein synthesis quality control.Life science alliance · 2019Article
- Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis.International journal of molecular sciences · 2018Article
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Authors and funding
9 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Respiratory chain (RC) complexes are organized into supercomplexes forming 'respirasomes'. The mechanism underlying the interdependence of individual complexes is still unclear. Here, we show in human patient cells that the presence of a truncated COX1 subunit leads to destabilization of complex IV (CIV) and other RC complexes. Surprisingly, the truncated COX1 protein is integrated into subcomplexes, the holocomplex and even into supercomplexes, which however are all unstable. Depletion of the m-AAA protease AFG3L2 increases stability of the truncated COX1 and other mitochondrially encoded proteins, whereas overexpression of wild-type AFG3L2 decreases their stability. Both full-length and truncated COX1 proteins physically interact with AFG3L2. Expression of a dominant negative AFG3L2 variant also promotes stabilization of CIV proteins as well as the assembled complex and rescues the severe phenotype in heteroplasmic cells. Our data indicate that the mechanism underlying pathogenesis in these patients is the rapid clearance of unstable respiratory complexes by quality control pathways, rather than their impaired assembly.
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