1-Antitrypsin deficiency * 4: Molecular pathophysiology
Open Access
- 1 June 2004
- Vol. 59 (6) , 529-535
- https://doi.org/10.1136/thx.2003.006528
Abstract
The molecular basis of α1-antitrypsin deficiency is reviewed and is shown to be due to the accumulation of mutant protein as ordered polymers within the endoplasmic reticulum of hepatocytes. The current goals are to determine the cellular response to polymeric α1-antitrypsin and to develop therapeutic strategies to block polymerisation in vivo.Keywords
This publication has 99 references indexed in Scilit:
- A Kinetic Mechanism for the Polymerization of α1-AntitrypsinPublished by Elsevier ,1999
- Implications for function and therapy of a 2.9 å structure of binary-complexed antithrombinJournal of Molecular Biology, 1998
- Wild-type α1-antitrypsin is in the canonical inhibitory conformationJournal of Molecular Biology, 1998
- Short CommunicationBiological Chemistry, 1997
- Complexes between proteinase 3, α1‐antitrypsin and proteinase 3 anti‐neutrophil cytoplasm autoantibodies: a comparison between α1‐antitrypsin PiZ allele carriers and non‐carriers with Wegener's granulomatosisEuropean Journal of Clinical Investigation, 1996
- The molecular basis of α1-antichymotrypsin deficiency in a heterozygote with liver and lung diseaseJournal of Hepatology, 1993
- Comparative properties of human α‐1‐proteinase inhibitor glycosylation variantsFEBS Letters, 1990
- Replacement Therapy for Alpha1-Antitrypsin Deficiency Associated with EmphysemaNew England Journal of Medicine, 1987
- Risk of Cirrhosis and Primary Liver Cancer in Alpha1-Antitrypsin DeficiencyNew England Journal of Medicine, 1986
- Amino acid substitution Glu→Lys in α1‐antitrypsin PiZFEBS Letters, 1976