ReviewHuman molecular genetics2011
Gene therapy for alpha-1 antitrypsin deficiency.
Review in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 48 citations in OpenAlex.
- Lipid nanoparticle technology for therapeutic gene regulation in the liver.Advanced drug delivery reviews · 2020Review
- Nanoparticle Deposition in Rhythmically Moving Acinar Models with Interalveolar Septal Apertures.Nanomaterials (Basel, Switzerland) · 2019Article
- Protein-Engineered Coagulation Factors for Hemophilia Gene Therapy.Molecular therapy. Methods & clinical development · 2019Review
- Alpha 1 Antitrypsin Gene Therapy Extends the Lifespan of Lupus-Prone Mice.Molecular therapy. Methods & clinical development · 2018Article
- SERPINA1 mRNA as a Treatment for Alpha-1 Antitrypsin Deficiency.Journal of nucleic acids · 2018Article
- Thermal Stability as a Determinant of AAV Serotype Identity.Molecular therapy. Methods & clinical development · 2017Article
- Barriers to inhaled gene therapy of obstructive lung diseases: A review.Journal of controlled release : official journal of the Controlled Release Society · 2016Review
- Gene correction in patient-specific iPSCs for therapy development and disease modeling.Human genetics · 2016Review
- Challenges and Prospects for Alpha-1 Antitrypsin Deficiency Gene Therapy.Human gene therapy · 2015Review
- Diagnosis and early detection of COPD using spirometry.Journal of thoracic disease · 2014Review
- The myeloid-binding peptide adenoviral vector enables multi-organ vascular endothelial gene targeting.Laboratory investigation; a journal of technical methods and pathology · 2014Article
- Parameters Affecting Image-guided, Hydrodynamic Gene Delivery to Swine Liver.Molecular therapy. Nucleic acids · 2013Article
- The parallel lives of alpha1-antitrypsin deficiency and pulmonary alveolar proteinosis.Orphanet journal of rare diseases · 2013Review
- CpG-depleted adeno-associated virus vectors evade immune detection.The Journal of clinical investigation · 2013Article
- A highly efficient synthetic vector: nonhydrodynamic delivery of DNA to hepatocyte nuclei in vivo.ACS nano · 2013Article
- Early recognition of alpha-1 antitrypsin deficiency and considerations for liver transplantation.Gastroenterology & hepatology · 2013Article
- Histone deacetylase inhibitor (HDACi) suberoylanilide hydroxamic acid (SAHA)-mediated correction of α1-antitrypsin deficiency.The Journal of biological chemistry · 2012Article
- A novel surgical approach for intratracheal administration of bioactive agents in a fetal mouse model.Journal of visualized experiments : JoVE · 2012Article
- Expanding the clinical indications for α(1)-antitrypsin therapy.Molecular medicine (Cambridge, Mass.) · 2012Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 2 countries.
Funding
Abstract
Alpha-1 antitrypsin (AAT) deficiency is a common single-gene disorder among Northern Europeans and North Americans. The carrier frequency for the common missense mutation (Z-AAT) ranges from 4% in the US to nearly 25% in the Republic of Ireland. Severe AAT deficiency (plasma levels below 11 μm) is most commonly associated with an adult-onset lung disease, with pan-acinar emphysema and airway inflammation, which is thought to be primarily owing to the loss of function of AAT in neutralizing neutrophil elastase and other pro-inflammatory enzymes. In 5-10% of patients, severe liver disease may develop. This may occur at any time from infancy to adulthood, and is thought to be owing to toxicity from the Z-AAT mutant protein that folds poorly and forms insoluble polymers within the hepatocyte, which is the primary site for AAT production. Thus, gene therapy for AAT lung disease is conceived of as augmentation of serum levels (a prolonged form of protein replacement, which is currently in use), while gene therapy for liver disease presents the problem of also having to downregulate the production of Z-AAT protein. Over the years, numerous strategies have been employed for the gene therapy of both AAT-deficient lung disease and liver disease. These will be reviewed with an emphasis on modalities that have reached clinical trials recently.
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Identifiers
What OpenQuestion holds
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.