ReviewJournal of medical genetics2007
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
Review in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 146 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
146 citing papers in PubMed, 385 citations in OpenAlex.
- Copper and zinc serum levels after derivative bariatric surgery: differences between Roux-en-Y Gastric bypass and biliopancreatic diversion.Obesity surgery · 2011Trial
- Drug-resistant epilepsy in an autosomal recessive copper metabolism disorder from SLC33A1 mutation.Epilepsy & behavior reports · 2026Article
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Harnessing Cuproptosis for Antitumor Immunity: A Review of Current Evidence and Therapeutic Strategies.Molecular carcinogenesis · 2026Review
- Intriguing role of the Golgi apparatus in astrocyte function: Implications for disorders.Neural regeneration research · 2026Article
- Review
- Human CTR1 Through the Ages: Milestones and Emerging Roles in Disease and Therapy.Biomolecules · 2025Review
- Article
- Copper regulates the expression of immune genes in microglial cells in vitro.Immunobiology · 2025Article
- Imaging Copper Levels during Life in the Brain and beyond Using a Fluorescent Copper Sensor with Multimodal Capacity.Chemical & biomedical imaging · 2025Article
- Structure-Based Understanding of CuBiosensors · 2025Review
- Wilson's disease with psychiatric symptoms: a case report.Journal of medical case reports · 2025Article
- An Alkyne-Directed Cleavage Approach for Activity-Based Cu(I) Sensing Reveals Manganese-Promoted Sensitization of Cuproptosis.Journal of the American Chemical Society · 2025Article
- Addressing Psychiatric Symptoms in Wilson's Disease: Translational Overlap with Bipolar Disorder and Emerging Therapeutic Strategies.Journal of clinical medicine · 2025Article
- Evaluation the Effects of Copper Nanoparticles Dietary Supplementation on Growth Performance, Carcass Characteristics, and Serum Antioxidant Status in Broilers.Biological trace element research · 2025Article
- The Effect of Chokeberry Juice and Fiber Consumption on the Concentration of Antioxidant Minerals in Serum.Antioxidants (Basel, Switzerland) · 2025Article
- Oxidant-Based Cytotoxic Agents During Aging: From Disturbed Energy Metabolism to Chronic Inflammation and Disease Progression.Biomolecules · 2025Review
- Bacterial Metallostasis: Metal Sensing, Metalloproteome Remodeling, and Metal Trafficking.Chemical reviews · 2024Review
- An Activity-Based Sensing Approach to Multiplex Mapping of Labile Copper Pools by Stimulated Raman Scattering.Journal of the American Chemical Society · 2024Article
- A novel network-based method identifies a cuproplasia-related pan-cancer gene signature to predict patient outcome.Human genetics · 2024Article
86 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The trace metal copper is essential for a variety of biological processes, but extremely toxic when present in excessive amounts. Therefore, concentrations of this metal in the body are kept under tight control. Central regulators of cellular copper metabolism are the copper-transporting P-type ATPases ATP7A and ATP7B. Mutations in ATP7A or ATP7B disrupt the homeostatic copper balance, resulting in copper deficiency (Menkes disease) or copper overload (Wilson disease), respectively. ATP7A and ATP7B exert their functions in copper transport through a variety of interdependent mechanisms and regulatory events, including their catalytic ATPase activity, copper-induced trafficking, post-translational modifications and protein-protein interactions. This paper reviews the extensive efforts that have been undertaken over the past few years to dissect and characterise these mechanisms, and how these are affected in Menkes and Wilson disease. As both disorders are characterised by an extensive clinical heterogeneity, we will discus how the underlying genetic defects correlate with the molecular functions of ATP7A and ATP7B and with the clinical expression of these disorders.
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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.