Article
The Z type variation of human alpha 1-antitrypsin causes a protein folding defect.
Nature structural biology - 1 May 1995
Yu M H, Lee K N, Kim J
Abstract excerpt
Emphysema is often associated with the Z type mutation of alpha 1-antitrypsin, which causes aggregation of the molecule in the liver and consequent plasma deficiency. The aggregation appears to be due to loop-sheet polymerization, although why the mutant protein polymerizes in vivo is unclear. Here we show that, unlike wild type antitrypsin, which folds in minutes, the folding of Z type alpha 1-antitrypsin is...
Topics
- Amino Acids
- Animals
- Crystallization
- Electrophoresis
- Emphysema
- Humans
- Liver
- Mutation
- Pancreatic Elastase
- Protein Folding
- Radioisotopes
- alpha 1-Antitrypsin