ReviewMolecules (Basel, Switzerland)2022
Molybdenum Cofactor Deficiency in Humans.
Review in Molecules (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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.
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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
30 citing papers in PubMed, 53 citations in OpenAlex.
- Guiding covalent catalysis enables a carbon-inserting rearrangement in molybdenum cofactor biosynthesis.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Impaired gephyrin G-domain trimerization and phase separation in a patient with developmental epileptic encephalopathy.EMBO molecular medicine · 2026Article
- Homeostasis of Molybdenum, Xanthine Oxidase and Aldehyde Oxidase Activity Levels in the Livers of Patients with End-Stage Liver Failure and Healthy Controls.International journal of molecular sciences · 2026Article
- The Dual Nature of Metals: Essential Nutrients and Environmental Contaminants.International journal of molecular sciences · 2026Review
- A to Z of Health: An Evidence-Based Narrative Review of Multivitamin-Multimineral and Nutraceutical Supplementation.Cureus · 2026Review
- Epigenetic Regulation of the BDNF Gene by Molybdenum in 9 to 11-Year-Old Children: A Targeted Gene DNA Methylation Study.Molecular nutrition & food research · 2026Article
- Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis.JIMD reports · 2026Article
- Article
- Sulfite oxidase deficiency causes persulfidation loss and hydrogen sulfide release.The Journal of clinical investigation · 2025Article
- Gephyrin filaments represent the molecular basis of inhibitory postsynaptic densities.Nature communications · 2025Article
- Trace Mineral Imbalances in Global Health: Challenges, Biomarkers, and the Role of Serum Analysis.Nutrients · 2025Review
- Insertional Mutagenesis as a Strategy to Open New Paths in Microalgal Molybdenum and Nitrate Homeostasis.Current issues in molecular biology · 2025Article
- Early Neonatal Fosdenopterin Treatment for Molybdenum Cofactor Deficiency Type A: New Insights into Its Natural History and Potential Role for Fetal Therapy.Journal of clinical medicine · 2025Article
- A prospective study of a whole blood metal mixture and depressive symptoms among Black women from Detroit, Michigan.Neurotoxicology · 2025Article
- Perioperative Care of a Child With Molybdenum Cofactor Deficiency.Journal of medical cases · 2025Article
- Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate.Journal of inherited metabolic disease · 2025Article
- Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1.Clinical genetics · 2025Article
- Bacterial Metallostasis: Metal Sensing, Metalloproteome Remodeling, and Metal Trafficking.Chemical reviews · 2024Review
- Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.BMC medical genomics · 2024Review
- Pushing at the Boundaries of Pterin Chemistry.Molecules (Basel, Switzerland) · 2024Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Molybdenum cofactor (Moco) deficiency (MoCD) is characterized by neonatal-onset myoclonic epileptic encephalopathy and dystonia with cerebral MRI changes similar to hypoxic-ischemic lesions. The molecular cause of the disease is the loss of sulfite oxidase (SOX) activity, one of four Moco-dependent enzymes in men. Accumulating toxic sulfite causes a secondary increase of metabolites such as S-sulfocysteine and thiosulfate as well as a decrease in cysteine and its oxidized form, cystine. Moco is synthesized by a three-step biosynthetic pathway that involves the gene products of
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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 Socratic graph.