α1-Antitrypsin deficiency
Abstract α1-Antitrypsin deficiency (A1ATD) is an inherited disorder caused by mutations in
SERPINA1, leading to liver and lung disease. It is not a rare disorder but frequently goes …
SERPINA1, leading to liver and lung disease. It is not a rare disorder but frequently goes …
The molecular and cellular pathology of α1-antitrypsin deficiency
Since its discovery 50 years ago, α 1-antitrypsin deficiency has represented a case study in
molecular medicine, with careful clinical characterisation guiding genetic, biochemical …
molecular medicine, with careful clinical characterisation guiding genetic, biochemical …
[PDF][PDF] A novel monoclonal antibody to characterize pathogenic polymers in liver disease associated with α1‐antitrypsin deficiency
E Miranda, J Pérez, UI Ekeowa, N Hadzic… - …, 2010 - Wiley Online Library
Alpha1‐antitrypsin is the most abundant circulating protease inhibitor. The severe Z
deficiency allele (Glu342Lys) causes the protein to undergo a conformational transition and …
deficiency allele (Glu342Lys) causes the protein to undergo a conformational transition and …
Update on alpha-1 antitrypsin deficiency: new therapies
Summary α 1-Antitrypsin deficiency is characterised by the misfolding and intracellular
polymerisation of mutant α 1-antitrypsin within the endoplasmic reticulum of hepatocytes …
polymerisation of mutant α 1-antitrypsin within the endoplasmic reticulum of hepatocytes …
[PDF][PDF] Capturing the conversion of the pathogenic alpha-1-antitrypsin fold by ATF6 enhanced proteostasis
Genetic variation in alpha-1 antitrypsin (AAT) causes AAT deficiency (AATD) through liver
aggregation-associated gain-of-toxic pathology and/or insufficient AAT activity in the lung …
aggregation-associated gain-of-toxic pathology and/or insufficient AAT activity in the lung …
Does protease–antiprotease imbalance explain chronic obstructive pulmonary disease?
DA Lomas - Annals of the American Thoracic Society, 2016 - atsjournals.org
Chronic obstructive pulmonary disease (COPD) is defined as airflow limitation that is not
fully reversible. The airflow limitation is usually progressive and is associated with the …
fully reversible. The airflow limitation is usually progressive and is associated with the …
Secretomic analysis identifies alpha-1 antitrypsin (A1AT) as a required protein in cancer cell migration, invasion, and pericellular fibronectin assembly for facilitating …
YH Chang, SH Lee, IC Liao, SH Huang… - Molecular & cellular …, 2012 - ASBMB
Metastasis is a major obstacle that must be overcome for the successful treatment of lung
cancer. Proteins secreted by cancer cells may facilitate the progression of metastasis …
cancer. Proteins secreted by cancer cells may facilitate the progression of metastasis …
Three new alpha1-antitrypsin deficiency variants help to define a C-terminal region regulating conformational change and polymerization
Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT
plasma levels, predisposing adults to pulmonary emphysema. The most common genetic …
plasma levels, predisposing adults to pulmonary emphysema. The most common genetic …
In Silico Assessment of Potential Druggable Pockets on the Surface of α1-Antitrypsin Conformers
The search for druggable pockets on the surface of a protein is often performed on a single
conformer, treated as a rigid body. Transient druggable pockets may be missed in this …
conformer, treated as a rigid body. Transient druggable pockets may be missed in this …
An integrative approach combining ion mobility mass spectrometry, X‐ray crystallography, and nuclear magnetic resonance spectroscopy to study the conformational …
MP Nyon, T Prentice, J Day, J Kirkpatrick… - Protein …, 2015 - Wiley Online Library
Native mass spectrometry (MS) methods permit the study of multiple protein species within
solution equilibria, whereas ion mobility (IM)‐MS can report on conformational behavior of …
solution equilibria, whereas ion mobility (IM)‐MS can report on conformational behavior of …