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Hepatic Fibrosis and Carcinogenesis in α1-Antitrypsin Deficiency: A Prototype for Chronic Tissue Damage in Gain-of-Function Disorders

In α1-antitrypsin (AT) deficiency, a point mutation renders a hepatic secretory glycoprotein prone to misfolding and polymerization. The mutant protein accumulates in the endoplasmic reticulum of liver cells and causes hepatic fibrosis and hepatocellular carcinoma by a gain-of-function mechanism. Ge...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Perlmutter, David H., Silverman, Gary A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Cold Spring Harbor Laboratory Press 2011
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3039936/
https://ncbi.nlm.nih.gov/pubmed/21421920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a005801
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