RT Journal Article
SR Electronic
T1 α<sub>1</sub>-Antitrypsin deficiency • 4: Molecular pathophysiology
JF Thorax
JO Thorax
FD BMJ Publishing Group Ltd and British Thoracic Society
SP 529
OP 535
DO 10.1136/thx.2003.006528
VO 59
IS 6
A1 D A Lomas
A1 H Parfrey
YR 2004
UL http://thorax.bmj.com/content/59/6/529.abstract
AB 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.