Article
Intrahepatic heteropolymerization of M and Z alpha-1-antitrypsin.
JCI insight - 23 Jul 2020
Laffranchi Mattia, Elliston Emma Lk, Miranda Elena, Perez Juan, Ronzoni Riccardo, Jagger Alistair M, Heyer-Chauhan Nina, Brantly Mark L, Fra Annamaria, Lomas David A, Irving James A
Abstract excerpt
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 risk of liver disease when compared with MM A1AT individuals. We have shown that Z and M A1AT can copolymerize in...
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