Alpha-1 antitrypsin defi- ciency: a conformational disease associated with lung and liver mani- festations. J Inherit Metab Dis. 2008;31:21-34.Greene CM,Miller SD,Carroll T,etc.Alpha-1 antitrypsin deficiency: a conformational disease associated with lung and liver manifestations.[J].2008,1(1...
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Alpha-1-antitrypsin (α1AT) is a protease inhibitor, the deficiency of which is associated with premature emphysema and a wide spectrum of liver disease. This protein is a small glycoprotein that migrates electrophoretically with the α1-globulin fraction of serum. Alpha-1-antitrypsin is a prot...
Alpha-1-antitrypsin (A1AT) deficiency is the commonest genetic cause of liver disease in children and chronic obstructive lung disease in young adult smokers.The pathogenetic mechanisms are completely different. While low serum levels of A1AT cause reduced alveolar elasticity and subsequent emphysema,...
The Role of Autophagy in Alpha-1-Antitrypsin Deficiency: A Specific Cellular Response in Genetic Diseases Associated with Aggregation-Prone Proteins In the classical form of alpha-1-antitrypsin (AT) deficiency a point mutation renders aggregation-prone properties on a hepatic secretory protein. The ...
Constitutive activation of autophagy and altered response to stress in the liver of a mouse model for alpha-1-antitrypsin deficiency: Jae-Koo An, Scott A Loethen, Kendra Conckright, David H Perlmutter, Jeffrey Teckman, Washington Universtiy School of Medicine, St. Louis, MOShow moreShow less...
Alpha1-antitrypsin deficiency, cirrhosis and emphysema Background-Increased serum levels of eosinophil cationic protein (ECP) have been detected in adolescent patients with cystic fibrosis. However, ECP concent... R Mahadeva,DA Lomas - 《Thorax》 被引量: 403发表: 1998年 Expression and distribution...
Does genetic testing result in behavioral health change? Changes in smoking behavior following testing for alpha-1 antitrypsin defic... Sonography, a complementary examination to alpha-fetoprotein testing for fetal neural tube defects Current status of alpha-fetoprotein testing ...
Superfamily of proteins, mostly serine peptidase inhibitors, that includes alpha 1-antitrypsin, complement C1 inhibitor, plasminogen activator inhibitor 1, maspin, PEDF, protease nexin-1 and vaspin. The serpin-enzyme complex (SEC) formed from a serpin and a serine peptidase binds to a hepatocyte re...
Mueller, C., and Flotte, T.R. (2013). Gene-based therapy for alpha-1 antitrypsin defi- ciency. COPD 10 (Suppl 1 ), 44-49.Mueller C, Flotte TR. Gene-based therapy for alpha-1 antitrypsin deficiency. COPD. 2013;10(Sup 1):44-49. doi: https://doi.org/10.3109/15412555.2013.764978...