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...

Full description

Saved in:
Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2017
Subjects:
Original Articles
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items