The Z mutation alters the global structural dynamics of α1-antitrypsin.
α1-Antitrypsin (α1AT) deficiency, the most common serpinopathy, results in both emphysema and liver disease. Over 90% of all clinical cases of α1AT deficiency are caused by the Z variant in which Glu342, located at the top of s5A, is replaced by a Lys which results in polymerization both in vivo and...
Main Authors: | Victoria A Hughes, Robert Meklemburg, Stephen P Bottomley, Patrick L Wintrode |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2014-01-01
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Series: | PLoS ONE |
Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/25181470/?tool=EBI |
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