Article
Dissociation of the Hepatic and Pulmonary Axes in Alpha-1 Antitrypsin Deficiency: Independent Trajectories of Organ-Specific Disease.
Biomolecules - 24 Jun 2026
Rodríguez Hermosa Juan Luis, Esmaili Soha, Esmaili Iman, Torres-Duran Maria, Tanash Hanan, Turner Alice M, Rodríguez-García Carlota, Barrecheguren Miriam, Stæhr Jensen Jens-Ulrik, Bunel Vincent, Corsico Angelo Guido, Chapman Kenneth R, Mornex Jean-François, Bartošovská-Klinková Eva, Lara Beatriz, López-Campos José Luis, Clarenbach Christian F, van 't Wout Emily F A, Fernandez-Acquier Mariano, Calle Rubio Myriam
Abstract excerpt
The interindividual phenotypic heterogeneity in Alpha-1 Antitrypsin Deficiency (AATD), despite a shared genetic etiology (the Z-allele of SERPINA1), is explained by the interaction of dual pathogenic mechanisms (gain-of-function vs. loss-of-function), additional genetic modifiers, and environmental or metabolic factors. Building on recent evidence suggesting divergent disease trajectories, we investigated whether...
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