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6 results on '"SAUNDERS, Darren"'

4. SerpinB2 (PAI-2) Modulates Proteostasis via Binding Misfolded Proteins and Promotion of Cytoprotective Inclusion Formation

Author

Lee, Jodi A., primary, Yerbury, Justin J., additional, Farrawell, Natalie, additional, Shearer, Robert F., additional, Constantinescu, Patrick, additional, Hatters, Danny M., additional, Schroder, Wayne A., additional, Suhrbier, Andreas, additional, Wilson, Mark R., additional, Saunders, Darren N., additional, and Ranson, Marie, additional

Published
2015
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6. A Novel SERPINA1 Mutation Causing Serum Alpha1-Antitrypsin Deficiency.

Author

Saunders, Darren N., Tindall, Elizabeth A., Shearer, Robert F., Roberson, Jacquelyn, Decker, Amy, Wilson, Jean Amos, and Hayes, Vanessa M.

Subjects
*TRYPSIN inhibitors, *BLOOD plasma, *BILIARY tract, *LIVER diseases, *GENETIC research
Abstract

Mutations in the SERPINA1 gene can cause deficiency in the circulating serine protease inhibitor α1-Antitrypsin (α1AT). α1AT deficiency is the major contributor to pulmonary emphysema and liver disease in persons of European ancestry, with a prevalence of 1 in 2500 in the USA. We present the discovery and characterization of a novel SERPINA1 mutant from an asymptomatic Middle Eastern male with circulating α1AT deficiency. This 49 base pair deletion mutation (T379Δ), originally mistyped by IEF, causes a frame-shift replacement of the last sixteen α1AT residues and adds an extra twenty-four residues. Functional analysis showed that the mutant protein is not secreted and prone to intracellular aggregation. [ABSTRACT FROM AUTHOR]

Published
2012
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