The pathological Trento variant of alpha‐1‐antitrypsin (E75V) shows nonclassical behaviour during polymerization

Severe alpha‐1‐antitrypsin deficiency (AATD) is most frequently associated with the alpha‐1‐antitrypsin (AAT) Z variant (E342K). ZZ homozygotes exhibit accumulation of AAT as polymers in the endoplasmic reticulum of hepatocytes. This protein deposition can lead to liver disease, with the resulting l...

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Detalhes bibliográficos
Publicado no:FEBS J
Main Authors: Miranda, Elena, Ferrarotti, Ilaria, Berardelli, Romina, Laffranchi, Mattia, Cerea, Marta, Gangemi, Fabrizio, Haq, Imran, Ottaviani, Stefania, Lomas, David A., Irving, James A., Fra, Annamaria
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5518210/
https://ncbi.nlm.nih.gov/pubmed/28504839
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/febs.14111
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