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
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency.
Giacopuzzi E et al.
Human Mutation, 2018
Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.
Silva D et al.
Respiratory Medicine, 2016
Simultaneous phenotyping and quantification of α-1-antitrypsin by liquid chromatography-tandem mass spectrometry.
Chen Y et al.
Clinical Chemistry, 2011
Alpha1-antitrypsin deficiency: a clinical-genetic overview.
Abboud RT et al.
The Application of Clinical Genetics, 2011
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