ReviewAnnals of the New York Academy of Sciences2014
Modifying factors and phenotypic diversity in Wilson's disease.
Review in Annals of the New York Academy of Sciences, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 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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Who cites it
36 citing papers in PubMed, 69 citations in OpenAlex.
- Changes in Gut Microbiota and Brain Function in Rats Fed with a copper-overloaded Diet.Biological trace element research · 2026Article
- CRISPR/Cas9-mediated gene correction of Wilson disease H1069Q point mutation in patient-specific induced pluripotent stem cells.Gene therapy · 2026Article
- PKA activation rescues myocardial injury elicited by silica nanoparticles through improving oxidative stress, mitochondrial health, and copper homeostasis.Materials today. Bio · 2026Article
- Choline and DNA methylation: impact across metabolic, oncogenic and neurodevelopmental disorders.Clinical epigenetics · 2026Review
- Comparative transcriptome analysis reveals genes associated with variation in liver copper concentration in Polish Merino sheep.Scientific reports · 2025Article
- Epidemiology of Wilson's Disease and Pathogenic Variants of theInternational journal of molecular sciences · 2024Review
- Transcriptomic evaluation of N6-methyladenosine modification can be used to identify differentially gene and immune-related biological processes in TX mice with liver fibrosis.Molecular biology reports · 2024Article
- Rare Initial Presentation of Wilson's Disease as Acute Encephalopathy with Recurrent Seizure.Oman medical journal · 2023Article
- A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants inGenes · 2022Article
- ATP7B-Deficient Hepatocytes Reveal the Importance of Protein Misfolding Induced at Low Copper Concentration.Cells · 2022Article
- Genome-wide association and Mendelian randomization study of blood copper levels and 213 deep phenotypes in humans.Communications biology · 2022Article
- Structure of the Wilson disease copper transporter ATP7B.Science advances · 2022Article
- Copper Toxicity Is Not Just Oxidative Damage: Zinc Systems and Insight from Wilson Disease.Biomedicines · 2021Review
- COMMD1 Exemplifies the Power of Inbred Dogs to Dissect Genetic Causes of Rare Copper-Related Disorders.Animals : an open access journal from MDPI · 2021Review
- HR-MS Based Untargeted Lipidomics Reveals Characteristic Lipid Signatures of Wilson's Disease.Frontiers in pharmacology · 2021Article
- System Pharmacology-Based Strategy to Decode the Synergistic Mechanism of GanDouLing for Wilson's Disease.Evidence-based complementary and alternative medicine : eCAM · 2021Article
- Molecular Regulation of Copper Homeostasis in the Male Gonad during the Process of Spermatogenesis.International journal of molecular sciences · 2020Review
- Article
- Dysregulated Choline, Methionine, and Aromatic Amino Acid Metabolism in Patients with Wilson Disease: Exploratory Metabolomic Profiling and Implications for Hepatic and Neurologic Phenotypes.International journal of molecular sciences · 2019Article
- Towards Bioengineered Liver Stem Cell Transplantation Studies in a Preclinical Dog Model for Inherited Copper Toxicosis.Bioengineering (Basel, Switzerland) · 2019Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Wilson's disease (WD) is a human disorder of copper homeostasis caused by mutations in the copper-transporting ATPase ATP7B. WD is characterized by copper accumulation, predominantly in the liver and brain, hepatic pathology, and wide differences between patients in the age of onset and the spectrum of symptoms. Several factors contribute to the phenotypic variability of WD. The WD-causing mutations produce a wide range of changes in stability, activity, intracellular localization, and trafficking of ATP7B; the nonpathogenic genetic polymorphisms may contribute to the phenotype. In Atp7b(-/-) mice, a mouse model of WD, an abnormal intracellular distribution of copper in the liver triggers distinct changes in the transcriptome; these mRNA profiles might be used to more specifically define disease progression. The major effect of accumulating copper on lipid metabolism and especially cholesterol homeostasis in mice and humans suggests the importance of fat and cholesterol metabolism as modifying factors in WD.
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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.