ReviewEMBO molecular medicine2016
Mitochondrial disorders in children: toward development of small-molecule treatment strategies.
Review in EMBO molecular medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 89 citations in OpenAlex.
- Mitochondrial changes associated with viral infectious diseases in the paediatric population.Reviews in medical virology · 2021Pooled it
- The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders.Clinical pharmacology and therapeutics · 2019Trial
- KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers.Orphanet journal of rare diseases · 2017Trial
- Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.Scientific reports · 2025Article
- Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives.Pharmaceutics · 2025Review
- Pathways controlling neurotoxicity and proteostasis in mitochondrial complex I deficiency.Human molecular genetics · 2024Article
- Mitochondrial Stress and Mitokines: Therapeutic Perspectives for the Treatment of Metabolic Diseases.Diabetes & metabolism journal · 2024Review
- Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.Orphanet journal of rare diseases · 2023Article
- ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy.European journal of medical research · 2022Article
- SGPL1 stimulates VPS39 recruitment to the mitochondria in MICU1 deficient cells.Molecular metabolism · 2022Article
- Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.Brain : a journal of neurology · 2022Review
- The role of mitochondria in the pathogenesis of Kawasaki disease.Frontiers in immunology · 2022Article
- Is there a special relationship between complex I activity and nigral neuronal loss in Parkinson's disease? A critical reappraisal.Brain research · 2021Review
- PGC1s and Beyond: Disentangling the Complex Regulation of Mitochondrial and Cellular Metabolism.International journal of molecular sciences · 2021Review
- Comparative analysis of CI- and CIV-containing respiratory supercomplexes at single-cell resolution.Cell reports methods · 2021Article
- A Mitocentric View of the Main Bacterial and Parasitic Infectious Diseases in the Pediatric Population.International journal of molecular sciences · 2021Review
- Pioglitazone and Deoxyribonucleoside Combination Treatment Increases Mitochondrial Respiratory Capacity in m.3243A>G MELAS Cybrid Cells.International journal of molecular sciences · 2020Article
- Downregulation of respiratory complex I mediates major signalling changes triggered by TOR activation.Scientific reports · 2020Article
- Article
- Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature.Clinical kidney journal · 2019Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This review presents our current understanding of the pathophysiology and potential treatment strategies with respect to mitochondrial disease in children. We focus on pathologies due to mutations in nuclear DNA-encoded structural and assembly factors of the mitochondrial oxidative phosphorylation (OXPHOS) system, with a particular emphasis on isolated mitochondrial complex I deficiency. Following a brief introduction into mitochondrial disease and OXPHOS function, an overview is provided of the diagnostic process in children with mitochondrial disorders. This includes the impact of whole-exome sequencing and relevance of cellular complementation studies. Next, we briefly present how OXPHOS mutations can affect cellular parameters, primarily based on studies in patient-derived fibroblasts, and how this information can be used for the rational design of small-molecule treatment strategies. Finally, we discuss clinical trial design and provide an overview of small molecules that are currently being developed for treatment of mitochondrial disease.
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Registered trials
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.