ArticleGastroenterology2021
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Article in Gastroenterology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 80 citations in OpenAlex.
- Prognosis of pediatric hepatic Wilson disease with ATP7B loss of function variants.Clinical and experimental pediatrics · 2026Article
- Exploring the pathogenesis of a compound heterozygous variant in ATP7B associated with Wilson disease in an Iranian family.Molecular biology reports · 2026Article
- Wilson disease is a single gene disorder - comprehensive analysis of patients with prior negative genetic testing.JHEP reports : innovation in hepatology · 2026Article
- Adipose-derived mesenchymal stem cell exosomes ameliorate copper metabolism dysregulation and reduce cuproptosis caused by liver IRI.Frontiers in veterinary science · 2026Article
- Analyses ofHuman mutation · 2026Article
- Novel and less invasive biomarker assays to measure liver ATP7B in Wilson disease patients.Scientific reports · 2025Article
- Toward the Development of a Novel Newborn Screening Modality: In-Depth Nontargeted Proteome Analysis of Dried Blood Spots with a Robotic Pipeline Using Low-Cost Iron Powders.Analytical chemistry · 2025Article
- Wilson Disease: Novel Diagnostic and Therapeutic Approaches.Seminars in liver disease · 2025Review
- From blood drops to biomarkers: a scoping review of microsampling in mass spectrometry-based proteomics.Clinical proteomics · 2025Review
- A Copper-Based Photothermal-Responsive Nanoplatform Reprograms Tumor Immunogenicity via Self-Amplified Cuproptosis for Synergistic Cancer Therapy.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Spectrum and classification ofSaudi medical journal · 2025Article
- Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.International journal of neonatal screening · 2025Article
- Brain morphometry in hepatic Wilson disease patients.Journal of inherited metabolic disease · 2025Article
- Comparative review of copper-associated chronic hepatitis in dogs and Wilson disease in humans.Frontiers in veterinary science · 2025Review
- Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.Biomedicines · 2024Article
- Cuproptosis and Cu: a new paradigm in cellular death and their role in non-cancerous diseases.Apoptosis : an international journal on programmed cell death · 2024Review
- Advancements in clinical approaches, analytical methods, and smart sampling for LC-MS-based protein determination from dried matrix spots.Journal of separation science · 2024Review
- Cuproptosis Regulates Microenvironment and Affects Prognosis in Prostate Cancer.Biological trace element research · 2024Article
- ATP7B R778L mutant hepatocytes resist copper toxicity by activating autophagy and inhibiting necroptosis.Cell death discovery · 2023Article
- Wilson's disease: practical information for general physicians.Hepatobiliary surgery and nutrition · 2023Article
Corrections and comments
- Commented on by
Authors and funding
16 authors at 9 institutions in 6 countries.
Funding
Abstract
BACKGROUND &
aimsBoth existing clinical criteria and genetic testing have significant limitations for the diagnosis of Wilson disease (WD), often creating ambiguities in patient identification and leading to delayed diagnosis and ineffective management. ATP7B protein concentration, indicated by direct measurement of surrogate peptides from patient dried blood spot samples, could provide primary evidence of WD. ATP7B concentrations were measured in patient samples from diverse backgrounds, diagnostic potential is determined, and results are compared with biochemical and genetic results from individual patients.
methodsTwo hundred and sixty-four samples from biorepositories at 3 international and 2 domestic academic centers and 150 normal controls were obtained after Institutional Review Board approval. Genetically or clinically confirmed WD patients with a Leipzig score >3 and obligate heterozygote (carriers) from affected family members were included. ATP7B peptide measurements were made by immunoaffinity enrichment mass spectrometry.
resultsTwo ATP7B peptides were used to measure ATP7B protein concentration. Receiver operating characteristics curve analysis generates an area under the curve of 0.98. ATP7B peptide analysis of the sequence ATP7B 887 was found to have a sensitivity of 91.2%, specificity of 98.1%, positive predictive value of 98.0%, and a negative predictive value of 91.5%. In patients with normal ceruloplasmin concentrations (>20 mg/dL), 14 of 16 (87.5%) were ATP7B-deficient. In patients without clear genetic results, 94% were ATP7B-deficient.
conclusionsQuantification of ATP7B peptide effectively identified WD patients in 92.1% of presented cases and reduced ambiguities resulting from ceruloplasmin and genetic analysis. Clarity is brought to patients with ambiguous genetic results, significantly aiding in noninvasive diagnosis. A proposed diagnostic score and algorithm incorporating ATP7B peptide concentrations can be rapidly diagnostic and supplemental to current Leipzig scoring systems.
Indexed as
Identifiers
What OpenQuestion holds
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.