Intrahepatic heteropolymerization of M and Z alpha-1-antitrypsin

The α-1-antitrypsin (or alpha-1-antitrypsin, A1AT) Z variant is the primary cause of severe A1AT deficiency and forms polymeric chains that aggregate in the endoplasmic reticulum of hepatocytes. Around 2%–5% of Europeans are heterozygous for the Z and WT M allele, and there is evidence of increased...

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Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: Laffranchi, Mattia, Elliston, Emma L.K., Miranda, Elena, Perez, Juan, Ronzoni, Riccardo, Jagger, Alistair M., Heyer-Chauhan, Nina, Brantly, Mark L., Fra, Annamaria, Lomas, David A., Irving, James A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7453904/
https://ncbi.nlm.nih.gov/pubmed/32699193
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.135459
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