Associated Papers
Multiplex, multimodal mapping of variant effects in secreted proteins.
Popp NA et al.
Biorxiv : the Preprint Server for Biology, 2025
Spatial covariance reveals isothiocyanate natural products adjust redox stress to restore function in alpha-1-antitrypsin deficiency.
Sun S et al.
Cell Reports. Medicine, 2025
Tracing genetic diversity captures the molecular basis of misfolding disease.
Zhao P et al.
Nature Communications, 2024
Novel SERPINA1 Alleles Identified through a Large Alpha-1 Antitrypsin Deficiency Screening Program and Review of Known Variants.
Wiesemann GS et al.
Chronic Obstructive Pulmonary Diseases (miami, Fla.), 2023
Bronchial gene expression alterations associated with radiological bronchiectasis.
Xu K et al.
The European Respiratory Journal, 2023
Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.
Ottaviani S et al.
Journal of Clinical Laboratory Analysis, 2020
Leveraging Population Genomics for Individualized Correction of the Hallmarks of Alpha-1 Antitrypsin Deficiency.
Wang C et al.
Chronic Obstructive Pulmonary Diseases (miami, Fla.), 2020
A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis.
Carpagnano GE et al.
Lung, 2017
Mutational analysis and modeling reveal functionally critical residues in transmembrane segments 1 and 3 of the UapA transporter.
Amillis S et al.
Journal of Molecular Biology, 2011
Description of a new rare alpha-1 antitrypsin mutation in Naples (Italy): PI*M S-Napoli.
Mosella M et al.
Annals of Thoracic Medicine, 0
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