ArticleJournal of proteome research2017
Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.
Article in Journal of proteome research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 54 citations in OpenAlex.
- Rapid peptide analysis in dried bloodspots to identify novel markers for newborn screening for congenital hypothyroidism.Scientific reports · 2026Article
- Labile Bound Copper (LBC) and Total Serum Copper Concentrations in Newborns and Infants.Biological trace element research · 2026Article
- Novel and less invasive biomarker assays to measure liver ATP7B in Wilson disease patients.Scientific reports · 2025Article
- From blood drops to biomarkers: a scoping review of microsampling in mass spectrometry-based proteomics.Clinical proteomics · 2025Review
- Dried Spot Paradigm: Problems and Prospects in Proteomics.International journal of molecular sciences · 2025Review
- 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
- 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
- The cost implications of Wilson disease among hospitalized patients: analysis of USA hospitals.European journal of gastroenterology & hepatology · 2024Article
- Advancements in clinical approaches, analytical methods, and smart sampling for LC-MS-based protein determination from dried matrix spots.Journal of separation science · 2024Review
- Monitoring of Copper in Wilson Disease.Diagnostics (Basel, Switzerland) · 2023Review
- Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots-Reinstate the Potential Use for Newborn Screening of Wilson Disease.International journal of neonatal screening · 2022Article
- Pseudocholinesterase as a Biomarker for Untreated Wilson's Disease.Biomolecules · 2022Article
- A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.Molecular genetics and metabolism · 2022Article
- Biochemical diagnosis of Wilson's disease: an update.Advances in laboratory medicine · 2022Review
- Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease.Biomedicines · 2021Review
- Tutorial: best practices and considerations for mass-spectrometry-based protein biomarker discovery and validation.Nature protocols · 2021Review
- Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.Gastroenterology · 2021Article
- Targeted Mass Spectrometry Enables Multiplexed Quantification of Immunomodulatory Proteins in Clinical Biospecimens.Frontiers in immunology · 2021Article
- Recent advances in Wilson disease.Translational gastroenterology and hepatology · 2021Review
- Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?JHEP reports : innovation in hepatology · 2020Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Wilson's Disease (WD), a copper transport disorder caused by a genetic defect in the ATP7B gene, has been a long time strong candidate for newborn screening (NBS), since early interventions can give better results by preventing irreversible neurological disability or liver cirrhosis. Several previous pilot studies measuring ceruloplasmin (CP) in infants or children showed that this marker alone was insufficient to meet the universal screening for WD. WD results from mutations that cause absent or markedly diminished levels of ATP7B. Therefore, ATP7B could serve as a marker for the screening of WD, if the protein can be detected from dried blood spots (DBS). This study demonstrates that the immuno-SRM platform can quantify ATP7B in DBS in the picomolar range, and that the assay readily distinguishes affected cases from normal controls (p < 0.0001). The assay precision was <10% CV, and the protein was stable for a week in DBS at room temperature. These promising proof-of-concept data open up the possibility of screening WD in newborns and the potential for a multiplexed assay for screening a variety of congenital disorders using proteins as biomarkers in DBS.
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