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
A novel model and molecular therapy for Z alpha-1 antitrypsin deficiency
β Scribed by Gillian L. McNab; Timothy R. Dafforn; Alice Wood; Elizabeth Sapey; Robert A. Stockley
- Publisher
- Springer-Verlag
- Year
- 2011
- Tongue
- English
- Weight
- 532 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0938-8990
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π SIMILAR VOLUMES
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
Alpha-1-antitrypsin (a1AT) deficiency is caused by homozygosity for the a1AT mutant Z gene and occurs in 1 in 2000 births. The Z mutation confers an abnormal conformation on the protein, resulting in an accumulation within the endoplasmic reticulum of hepatocytes rather than appropriate secretion. T