Alpha-1 Antitrypsin Deficiency and Liver Disease
β Scribed by Alain Braillon; Eric Nguyen-Khac
- Book ID
- 116211918
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 48 KB
- Volume
- 121
- Category
- Article
- ISSN
- 1555-7162
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In recent years, we have witnessed several important paradigm shifts in understanding the molecular basis of liver disease in alpha-1-antitrypsin (AT) deficiency. These shifts have become possible as a result of a number of advances in research on the cell biology of aggregation-prone mutant protein
Liver disease in alpha-1-antitrypsin (alpha1AT) deficiency is caused by a gain-of-toxic function mechanism engendered by the accumulation of a mutant glycoprotein in the endoplasmic reticulum (ER). The extraordinary degree of variation in phenotypical expression of this liver disease is believed to