Article
Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency.
Respiratory research - 30 Jan 2026
Matamala Nerea, Osaba Lourdes, Drobnic Estrella, Gil-Martín Sara, Martín-Galiano Antonio J, Almadana-Pacheco Virginia, Cazorla Maria Jesús, Costa Fabio, Souza-Sokoloski Caroline, Çörtük Mustafa, Serra-Fortuny Mireia, Ortiz-de Saracho Juan, Lloret-Queraltó Juan Antonio, Rodriguez-Lázaro Nuria, Michel-de la Rosa Francisco Javier, Rodríguez-Hermosa Juan Luis, Saldaña-Pérez Leonardo, Akıncı Elif, Alonso Javier, Benítez-Buelga Carlos, Gómez-Mariano Gema, López-Campos José Luis, Martínez-Delgado Beatriz
Abstract excerpt
BACKGROUND: Mutations in the SERPINA1 gene can result in alpha-1 antitrypsin deficiency (AATD), which may be associated with lung or liver injury. Although the S and Z alleles account for over 95% of cases of AATD, a wide variety of rare variants have been linked to deficiency and dysfunction, while other variants are associated with normal alpha-1 antitrypsin (AAT) levels and activity. Here, we present the...
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