ReviewJournal of inherited metabolic disease2008
Alpha-1 antitrypsin deficiency: a conformational disease associated with lung and liver manifestations.
Review in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 77 citations in OpenAlex.
- Real world evaluation of a novel lateral flow assay (AlphaKit® QuickScreen) for the detection of alpha-1-antitrypsin deficiency.Respiratory research · 2018Trial
- Liver Disease and Prevalence of Liver Transplantation in Adults With ZZ Alpha-1 Antitrypsin Deficiency-A Meta-Analysis.Liver international communications · 2025Article
- Cell therapy for liver disorders: past, present and future.Nature reviews. Gastroenterology & hepatology · 2025Review
- Characterization of Novel Alpha-1-Antitrypsin Coding Variants in a Mammalian Cellular Model.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Safety of Intravenous Administration of an AAV8 Vector Coding for an Oxidation-Resistant Human α1-Antitrypsin for the Treatment of α1-Antitrypsin Deficiency.Human gene therapy · 2023Article
- Alpha-1 antitrypsin inhibits TMPRSS2 protease activity and SARS-CoV-2 infection.Nature communications · 2021Article
- Alpha-1-antitrypsin: A possible host protective factor against Covid-19.Reviews in medical virology · 2021Review
- Neutrophil elastase promotes macrophage cell adhesion and cytokine production through the integrin-Src kinases pathway.Scientific reports · 2020Article
- Gene therapy for alpha 1-antitrypsin deficiency with an oxidant-resistant human alpha 1-antitrypsin.JCI insight · 2020Article
- Intrapleural Gene Therapy for Alpha-1 Antitrypsin Deficiency-Related Lung Disease.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2018Article
- Liver Disease in Alpha-1 Antitrypsin Deficiency: Current Approaches and Future Directions.Current pathobiology reports · 2017Review
- Gene Therapy for Alpha-1 Antitrypsin Deficiency Lung Disease.Annals of the American Thoracic Society · 2016Review
- The Natural History of Lung Function in Severe Deficiency of Alpha-1 Antitrypsin Following Orthotopic Liver Transplantation: A Case Report.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2015Article
- Article
- α1-antitrypsin modulates microglial-mediated neuroinflammation and protects microglial cells from amyloid-β-induced toxicity.Journal of neuroinflammation · 2014Article
- Effect of hypoxia on lung gene expression and proteomic profile: insights into the pulmonary surfactant response.Journal of proteomics · 2014Article
- Proteomic changes of alveolar lining fluid in illnesses associated with exposure to inhaled non-infectious microbial particles.PloS one · 2014Article
- Antisense oligonucleotide treatment ameliorates alpha-1 antitrypsin-related liver disease in mice.The Journal of clinical investigation · 2014Article
- Article
- The prevalence of alpha-1 antitrypsin deficiency in Ireland.Respiratory research · 2011Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alpha-1 antitrypsin (A1AT) is a serine anti-protease produced chiefly by the liver. A1AT deficiency is a genetic disorder characterized by serum levels of less than 11 mumol/L and is associated with liver and lung manifestations. The liver disease, which occurs in up to 15% of A1AT-deficient individuals, is a result of toxic gain-of-function mutations in the A1AT gene, which cause the A1AT protein to fold aberrantly and accumulate in the endoplasmic reticulum of hepatocytes. The lung disease is associated with loss-of-function, specifically decreased anti-protease protection on the airway epithelial surface. The so-called 'Z' mutation in A1AT deficiency encodes a glutamic acid-to-lysine substitution at position 342 in A1AT and is the most common A1AT allele associated with disease. Here we review the current understanding of the molecular pathogenesis of A1AT deficiency and the best clinical management protocols.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.