Molecular Mechanism of Z α1-Antitrypsin Deficiency

The Z mutation (E342K) of α1-antitrypsin (α1-AT), carried by 4% of Northern Europeans, predisposes to early onset of emphysema due to decreased functional α1-AT in the lung and to liver cirrhosis due to accumulation of polymers in hepatocytes. However, it remains unclear why the Z mutation causes in...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Huang, Xin, Zheng, Ying, Zhang, Fei, Wei, Zhenquan, Wang, Yugang, Carrell, Robin W., Read, Randy J., Chen, Guo-Qiang, Zhou, Aiwu
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2016
Assuntos:
Protein Structure and Folding
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4957051/
https://ncbi.nlm.nih.gov/pubmed/27246852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.727826
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