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Article

Heteropolymerization of α-1-antitrypsin mutants in cell models mimicking heterozygosity.

Human molecular genetics - 15 May 2018

Laffranchi Mattia, Berardelli Romina, Ronzoni Riccardo, Lomas David A, Fra Annamaria

Abstract excerpt

The most common genotype associated with severe α-1-antitrypsin deficiency (AATD) is the Z homozygote. The Z variant (Glu342Lys) of α-1-antitrypsin (AAT) undergoes a conformational change and is retained within the endoplasmic reticulum (ER) of hepatocytes leading to the formation of ordered polymeric chains and inclusion bodies. Accumulation of mutated protein predisposes to cirrhosis whilst plasma AAT...

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PMID: 29538751
DOI: 10.1093/hmg/ddy090

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