Article
SVIP regulates Z variant alpha-1 antitrypsin retro-translocation by inhibiting ubiquitin ligase gp78.
PloS one - 1 Jan 2017
Khodayari Nazli, Wang Rejean Liqun, Marek George, Krotova Karina, Kirst Mariana, Liu Chen, Rouhani Farshid, Brantly Mark
Abstract excerpt
Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder characterized by early-onset emphysema and liver disease. The most common disease-causing mutation is a single amino acid substitution (Glu/Lys) at amino acid 342 of the mature protein, resulting in disruption of the 290-342 salt bridge (an electrophoretic abnormality defining the mutation [Z allele, or ZAAT]), protein misfolding, polymerization, and...
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