ArticleOxidative medicine and cellular longevity2017
Combined Respiratory Chain Deficiency and
Article in Oxidative medicine and cellular longevity, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 42 citations in OpenAlex.
- Overview of neuroimaging in primary mitochondrial disorders.Pediatric radiology · 2025Review
- Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.Journal of inherited metabolic disease · 2024Review
- Mitochondrial disease and epilepsy in children.Frontiers in neurology · 2024Review
- Dual diagnosis ofRare (Amsterdam, Netherlands) · 2024Article
- Ovarian carcinoma immunoreactive antigen-like protein 2 (OCIAD2) is a novel complex III-specific assembly factor in mitochondria.Molecular biology of the cell · 2022Article
- Mitochondrial protein dysfunction in pathogenesis of neurological diseases.Frontiers in molecular neuroscience · 2022Review
- Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.EMBO molecular medicine · 2021Article
- Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster.Journal of molecular medicine (Berlin, Germany) · 2021Article
- Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain.International journal of molecular sciences · 2021Review
- Organization of the Respiratory Supercomplexes in Cells with Defective Complex III: Structural Features and Metabolic Consequences.Life (Basel, Switzerland) · 2021Review
- Loss of COX4I1 Leads to Combined Respiratory Chain Deficiency and Impaired Mitochondrial Protein Synthesis.Cells · 2021Article
- Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions.International journal of molecular sciences · 2021Review
- Human Mitochondrial Pathologies of the Respiratory Chain and ATP Synthase: Contributions from Studies ofLife (Basel, Switzerland) · 2020Review
- Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome.The Biochemical journal · 2020Review
- OSMR controls glioma stem cell respiration and confers resistance of glioblastoma to ionizing radiation.Nature communications · 2020Article
- Metabolic reprogramming related to whole-chromosome instability in models for Hürthle cell carcinoma.Scientific reports · 2020Article
- Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IV.The EMBO journal · 2020Article
- From old to new - Repurposing drugs to target mitochondrial energy metabolism in cancer.Seminars in cell & developmental biology · 2020Review
- Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.American journal of human genetics · 2020Article
- Proteomic profiling of the neurons in mice with depressive-like behavior induced by corticosterone and the regulation of berberine: pivotal sites of oxidative phosphorylation.Molecular brain · 2019Article
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Authors and funding
20 authors at 6 institutions in 3 countries.
Funding
Abstract
Vertebrate respiratory chain complex III consists of eleven subunits. Mutations in five subunits either mitochondrial (MT-CYB) or nuclear (CYC1, UQCRC2, UQCRB, and UQCRQ) encoded have been reported. Defects in five further factors for assembly (TTC19, UQCC2, and UQCC3) or iron-sulphur cluster loading (BCS1L and LYRM7) cause complex III deficiency. Here, we report a second patient with UQCC2 deficiency. This girl was born prematurely; pregnancy was complicated by intrauterine growth retardation and oligohydramnios. She presented with respiratory distress syndrome, developed epileptic seizures progressing to status epilepticus, and died at day 33. She had profound lactic acidosis and elevated urinary pyruvate. Exome sequencing revealed two homozygous missense variants in
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.