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February 2, 2026Respiratory Research0 citationsOpen Access

Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency

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NMNerea MatamalaInstituto de Salud Carlos IIILOLourdes OsabaGrifols (Spain)EDEstrella DrobnicGrifols (Spain)

Key Points

  • This research aims to characterize novel variants of the SERPINA1 gene and their clinical significance.
  • Conducted functional assays to assess SERPINA1 variants
  • Analyzed protein structural information related to the mutations
  • Expanded the list of known pathogenic SERPINA1 variants
  • Identified several new SERPINA1 mutations with pathogenic effects
  • Enhanced understanding of alpha-1 antitrypsin deficiency
  • Facilitated potential diagnoses for future cases of AATD

Abstract

Functional assays and protein structural information are useful tools in the characterization of novel variants of the SERPINA1 gene. The newly characterized mutations expand the number of SERPINA1 variants with proven pathogenic effects, facilitating the diagnoses of future cases of AATD.

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Cite This Study

Matamala et al. (2026) studied this question.

synapsesocial.com/papers/6980feb9c1c9540dea811166https://doi.org/10.1186/s12931-025-03486-1
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