Associated Papers
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
39809267 (PubMed )
Supplement: mmc2.xlsx › Figure_5
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
Granularity of SERPINA1 alleles by DNA sequencing in CanCOLD.
Gupta N et al.
The European Respiratory Journal, 2020
New cis-Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency.
Matamala N et al.
American Journal of Respiratory Cell and Molecular Biology, 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
Description of 22 new alpha-1 antitrypsin genetic variants.
Renoux C et al.
Orphanet Journal of Rare Diseases, 2018
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