Overview of Alpha-1 Antitrypsin DeficiencyMediated Liver Disease

Overview of Alpha-1 Antitrypsin DeficiencyMediated Liver Disease

Alpha-1 antitrypsin (AAT), encoded by the SERPINA1 gene, is a protein mainly produced and secreted by hepatocytes. Some specific mutations affecting SERPINA1 may cause accumulation of misfolded AAT in the endoplasmic reticulum of the hepatocytes leading to AAT deficiency (AATD). Z-AAT is the most s...

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Bibliographic Details
Main Authors: Esra Karatas, Sylvaine Di-Tommaso, Nathalie Dugot-Senant, Alain Lachaux, Marion Bouchecareilh
Format: Article
Language:English
Published: European Medical Journal 2019-05-01
Series:European Medical Journal Hepatology
Subjects:
alpha-1 antitrypsin deficiency
genetic and environmental modifiers
liver disease
paediatric
rare inherited disorder
therapeutic strategies
Online Access:https://www.emjreviews.com/hepatology/article/overview-of-alpha-1-antitrypsin-deficiency-mediated-liver-disease/

Internet

https://www.emjreviews.com/hepatology/article/overview-of-alpha-1-antitrypsin-deficiency-mediated-liver-disease/

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