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...

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Autori principali: Wu, Y, Whitman, I, Molmenti, E, Moore, K, Hippenmeyer, P, Perlmutter, D H
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1994
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC44737/
https://ncbi.nlm.nih.gov/pubmed/8090762
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