Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype

Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype

Heme oxygenase 1 (HO-1) is the pivotal catalyst for the primary and rate-determining step in heme catabolism, playing a crucial role in mitigating heme-induced oxidative damage. Pathogenic variants in the HMOX1 gene which encodes HO-1, are responsible for a severe, multisystem disease characterized...

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Bibliographic Details
Main Authors: Lea-Sophie Berendes, Petra Schulze Westhoff, Helmut Wittkowski, Anja Seelhöfer, Georg Varga, Thorsten Marquardt, Julien H. Park
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Heme oxygenase-1
Heme metabolism
Inflammation
Oxidative damage
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426923000848

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http://www.sciencedirect.com/science/article/pii/S2214426923000848

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