The Importance of N186 in the Alpha-1-Antitrypsin Shutter Region Is Revealed by the Novel Bologna Deficiency Variant

The Importance of N186 in the Alpha-1-Antitrypsin Shutter Region Is Revealed by the Novel Bologna Deficiency Variant

Alpha-1-antitrypsin (AAT) deficiency causes pulmonary disease due to decreased levels of circulating AAT and consequently unbalanced protease activity in the lungs. Deposition of specific AAT variants, such as the common Z AAT, within hepatocytes may also result in liver disease. These deposits are...

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Bibliographic Details
Main Authors: Riccardo Ronzoni, Ilaria Ferrarotti, Emanuela D’Acunto, Alice M. Balderacchi, Stefania Ottaviani, David A. Lomas, James A. Irving, Elena Miranda, Annamaria Fra
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:International Journal of Molecular Sciences
Subjects:
liver storage disease
alpha-1-antitrypsin deficiency
endoplasmic reticulum
protein aggregation
<i>SERPINA1</i> alleles
serpinopathies
Online Access:https://www.mdpi.com/1422-0067/22/11/5668

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https://www.mdpi.com/1422-0067/22/11/5668

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