ReviewEssays in biochemistry2018
Human diseases associated with defects in assembly of OXPHOS complexes.
Review in Essays in biochemistry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
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Who cites it
66 citing papers in PubMed.
- Molecular mechanisms and targeted therapeutic strategies for glycolytic reprogramming in osteosarcoma.Genes & diseases · 2027Review
- Slirp2 modulates oogenesis via regulating mitochondrial protein translation.Journal of molecular cell biology · 2026Article
- COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.Nature communications · 2026Article
- Structural basis for late maturation steps of mitochondrial respiratory chain complex IV within the human respirasome.Nature communications · 2026Article
- Effects of exercise training on skeletal muscle function in patients with mitochondrial myopathy: a systematic review.Frontiers in sports and active living · 2026Review
- Susceptibility of mice to primaryFrontiers in immunology · 2026Article
- Mitochondria: the central hub linking exercise to enhanced cardiac function.Frontiers in physiology · 2026Review
- Perturbation of multiprotein complexes in skeletal muscle induces protective proteases in the CNS that degrade pathogenic proteins.npj aging · 2025Article
- Transcription arrest induces formation of RNA granules in mitochondria.Life science alliance · 2025Article
- Opantimirs: A class of antagonizing microRNAs that upregulate Opa1 and improve mitochondrial and disuse myopathies.Cell reports. Medicine · 2025Article
- Mapping metabolic dependences and capacities using ATP as a biomarker.Research square · 2025Article
- Overview of neuroimaging in primary mitochondrial disorders.Pediatric radiology · 2025Review
- The flexible chain: regulation of structure and activity of ETC complexes defines rate of ATP synthesis and sites of superoxide generation.Biophysical reviews · 2025Review
- NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse Model.Biomolecules · 2024Article
- The 24-kDa subunit of mitochondrial complex I regulates growth, microsclerotia development, stress tolerance, and virulence in Verticillium dahliae.BMC biology · 2024Article
- To boldly go where no microRNAs have gone before: spaceflight impact on risk for small-for-gestational-age infants.Communications biology · 2024Article
- Characterization of Shy1, the Schizosaccharomyces pombe homolog of human SURF1.Scientific reports · 2024Article
- A Comprehensive Pan-Cancer Analysis of Cytochrome C Oxidase Assembly Factor 1 (COA1) Reveals Instrumental Role of Mitochondrial Protein Assembly in Cancer that Modulates Disease Progression and Prognostic Outcome.Cell biochemistry and biophysics · 2024Article
- A self-reinforcing cycle hypothesis in heart failure pathogenesis.Nature cardiovascular research · 2024Review
- Maternal PM2.5 exposure is associated with preterm birth and gestational diabetes mellitus, and mitochondrial OXPHOS dysfunction in cord blood.Environmental science and pollution research international · 2024Article
6 more citing papers are in PubMed but not listed here.
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2 authors.
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Abstract
The structural biogenesis and functional proficiency of the multiheteromeric complexes forming the mitochondrial oxidative phosphorylation system (OXPHOS) require the concerted action of a number of chaperones and other assembly factors, most of which are specific for each complex. Mutations in a large number of these assembly factors are responsible for mitochondrial disorders, in most cases of infantile onset, typically characterized by biochemical defects of single specific complexes. In fact, pathogenic mutations in complex-specific assembly factors outnumber, in many cases, the repertoire of mutations found in structural subunits of specific complexes. The identification of patients with specific defects in assembly factors has provided an important contribution to the nosological characterization of mitochondrial disorders, and has also been a crucial means to identify a huge number of these proteins in humans, which play an essential role in mitochondrial bioenergetics. The wide use of next generation sequencing (NGS) has led to and will allow the identifcation of additional components of the assembly machinery of individual complexes, mutations of which are responsible for human disorders. The functional studies on patients' specimens, together with the creation and characterization of
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