Associated Papers
Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact.
Leon C et al.
Orphanet Journal of Rare Diseases, 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
39809267 (PubMed )
Supplement: mmc2.xlsx › Figure_5
Tracing genetic diversity captures the molecular basis of misfolding disease.
Zhao P et al.
Nature Communications, 2024
Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.
Lopez-Campos JL et al.
Human Genomics, 2023
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
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency.
Giacopuzzi E et al.
Human Mutation, 2018
Identification of a new defective SERPINA1 allele (PI*Zla palma) encoding an alpha-1-antitrypsin with altered glycosylation pattern.
Hernández-Pérez JM et al.
Respiratory Medicine, 2017
A patient with the rare alpha-1-antitrypsin variant (Z)bristol in compound heterozygosity with the Z mutation.
Bates KJ et al.
Annals of Clinical Biochemistry, 2013
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