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

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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Publication Details

Journal
Respiratory Research
Published
2026-01-30
DOI
https://doi.org/10.1186/s12931-025-03486-1
Primary Topic
Protease and Inhibitor Mechanisms
Type
article
Field-Weighted Citation Impact
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article

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

Estrella Drobnic, Lourdes Osaba, Francisco Javier Michel-de la Rosa, Antonio J. Martín-Galiano et al.
Respiratory Research
Protease and Inhibitor Mechanisms
article

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

Estrella Drobnic, Lourdes Osaba, Francisco Javier Michel-de la Rosa, Antonio J. Martín-Galiano, Mireia Serra-Fortuny, Mustafa Çörtük, Nerea Matamala, Sara Gil-Martín, Leonardo Ernesto Saldaña-Pérez, Juan Ortiz-de Saracho, Nuria Rodriguez-Lázaro, Elif Akıncı, Maria Jesús Cazorla, Beatriz Martínez-Delgado, Virginia Almadana-Pacheco, Gema Gómez-Mariano, Fabio Costa, Juan Antonio Lloret-Queraltó, Juan Luis Rodríguez-Hermosa, Carlos Benítez-Buelga, Caroline Souza-Sokoloski, Javier Alonso
article en

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.

Respiratory ResearchVol. 27(1)
Ankara University (TR), Instituto de Salud Carlos III (ES), Hospital Clínico San Carlos (ES), Hospital Universitario Virgen Macarena (ES), Hospital de Viladecans (ES), Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (ES), Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (ES), Hospital Universitario de Getafe (ES), Centre for Biomedical Network Research on Rare Diseases (ES), Hospital Universitario Virgen de las Nieves (ES), Hospital El Bierzo (ES), Grifols (Spain) (ES), Sağlık Bilimleri Üniversitesi (TR), Yedikule Teaching Hospital (TR), Instituto de Biomedicina de Sevilla (ES), Hospital de Clínicas Universidade Federal do Paraná (BR), Donostiako Unibertsitate Ospitalea (ES), Hospital Universitari de Tortosa Verge de la Cinta (ES), Hospital Universitario Virgen del Rocío (ES), Consorci Sanitari Garraf (ES), Instituto de Investigación de Enfermedades Raras (ES), Universidad de Sevilla (ES), Universidad Europea de Madrid (ES)
Openalex Percentile: Top 73%
Protease and Inhibitor Mechanisms
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