ReviewCurrent gastroenterology reports2014
Advances in alpha-1-antitrypsin deficiency liver disease.
Review in Current gastroenterology reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02691611 (Defining Epigenetic Regulation of Immunity in Alpha-1 Anti-trypsin Deficiency), which is not on this map. Cited by 16 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.
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.
Defining Epigenetic Regulation of Immunity in Alpha-1 Anti-trypsin Deficiency
Who cites it
16 citing papers in PubMed, 40 citations in OpenAlex.
- Review
- Timing and Indications for Liver Transplantation for Children with Chronic Liver Disease.Children (Basel, Switzerland) · 2025Review
- Tracing genetic diversity captures the molecular basis of misfolding disease.Nature communications · 2024Article
- Capturing the conversion of the pathogenic alpha-1-antitrypsin fold by ATF6 enhanced proteostasis.Cell chemical biology · 2023Article
- Utility of Transient Elastography for the Screening of Liver Disease in Patients with Alpha1-Antitrypsin Deficiency.Journal of clinical medicine · 2021Article
- Don't Miss the BoAAT: Correctly Diagnosing Acute-on-Chronic Liver Disease.Digestive diseases and sciences · 2019Article
- [Inherited metabolic diseases and liver transplantation].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2019Review
- All-Atom Simulations Reveal How Single-Point Mutations Promote Serpin Misfolding.Biophysical journal · 2018Article
- NorUDCA promotes degradation of α1-antitrypsin mutant Z protein by inducing autophagy through AMPK/ULK1 pathway.PloS one · 2018Article
- Footprint-free human fetal foreskin derived iPSCs: A tool for modeling hepatogenesis associated gene regulatory networks.Scientific reports · 2017Article
- Genotyping diagnosis of alpha-1 antitrypsin deficiency in Saudi adults with liver cirrhosis.Medicine · 2017Observational
- Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management.Pediatric transplantation · 2016Review
- Gene Therapy for Alpha-1 Antitrypsin Deficiency Lung Disease.Annals of the American Thoracic Society · 2016Review
- Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.Human molecular genetics · 2015Article
- Using antisense technology to develop a novel therapy for α-1 antitrypsin deficient (AATD) liver disease and to model AATD lung disease.Rare diseases (Austin, Tex.) · 2014Article
- Pediatric Fatty Liver Disease.Missouri medicineArticle
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 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alpha-1-antitrypsin (a1AT) deficiency is a common, but under-diagnosed, genetic disease. In the classical form, patients are homozygous for the Z mutant of the a1AT gene (called ZZ or PIZZ), which occurs in 1 in 2,000-3,500 births. The mutant Z gene directs the synthesis of large quantities of the mutant Z protein in the liver, which folds abnormally during biogenesis and accumulates intracellularly, rather than being efficiently secreted. The accumulation mutant Z protein within hepatocytes causes liver injury, cirrhosis, and hepatocellular carcinoma via a cascade of chronic hepatocellular apoptosis, regeneration, and end organ injury. There is no specific treatment for a1AT-associated liver disease, other than standard supportive care and transplantation. There is high variability in the clinical manifestations among ZZ homozygous patients, suggesting a strong influence of genetic and environmental modifiers. New insights into the biological mechanisms of intracellular injury have led to new, rational therapeutic approaches.
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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.