A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency.
Liver injury in PiZZ alpha 1-antitrypsin (alpha 1-AT) deficiency probably results from toxic effects of the abnormal alpha 1-AT molecule accumulating within the ER of liver cells. However, only 12-15% of individuals with this same genotype develops liver disease. Therefore, we predicted that other g...
Gardado en:
| Publicado en: | Proc Natl Acad Sci U S A |
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| Principais autores: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
National Academy of Sciences
1994
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC44737/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8090762/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.91.19.9014 |
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