ArticleJournal of translational medicine2015
Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency.
Article in Journal of translational medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 36 citations in OpenAlex.
- Serpina1e mediates the exercise-induced enhancement of hippocampal memory in male mice.Nature communications · 2026Article
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- Spatial- and Phospho-Proteomic Profiling Reveals Pancreatic and Hepatic Dysfunction in a Rat Model of Lethal Insulin Overdose.International journal of molecular sciences · 2025Article
- Altered polyadenylation site usage in SERPINA1 3'UTR in response to cellular stress affects A1AT protein expression.Scientific reports · 2025Article
- Lung Transcriptomics Link Emphysema to Barrier Dysfunction and Macrophage Subpopulations.American journal of respiratory and critical care medicine · 2025Article
- A comparative transcriptomics analysis of mammalian and non-mammalian acute kidney injury (AKI) models.Frontiers in cell and developmental biology · 2025Article
- PCR Analysis to Identify AAT Gene Promoters and Splice Variants.Methods in molecular biology (Clifton, N.J.) · 2024Article
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- Comparative RNA-Seq Analysis Revealed Tissue-Specific Splicing Variations during the Generation of the PDX Model.International journal of molecular sciences · 2023Article
- Recent advancements in understanding the genetic involvement of alpha-1 antitrypsin deficiency associated lung disease: a look at future precision medicine approaches.Expert review of respiratory medicine · 2022Review
- Protein Misfolding and Aggregation: The Relatedness between Parkinson's Disease and Hepatic Endoplasmic Reticulum Storage Disorders.International journal of molecular sciences · 2021Review
- Alternative poly-adenylation modulates α1-antitrypsin expression in chronic obstructive pulmonary disease.PLoS genetics · 2021Article
- Methylation of SERPINA1 gene promoter may predict chronic obstructive pulmonary disease in patients affected by acute coronary syndrome.Clinical epigenetics · 2021Article
- Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease.Hepatology international · 2020Article
- An RNA structure-mediated, posttranscriptional model of human α-1-antitrypsin expression.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Oncostatin M and TNF-α Induce Alpha-1 Antitrypsin Production in Undifferentiated Adipose Stromal Cells.Stem cells and development · 2017Article
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- Mycotoxin ochratoxin A disrupts renal developmentToxicology research · 2016Article
Corrections and comments
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Authors and funding
11 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSERPINA1 is the gene for alpha-1 antitrypsin (AAT), an acute phase protein with anti-protease and immunoregulatory activities. Mutations in SERPINA1 gene cause AAT deficiency and predispose individuals to early-onset emphysema and liver diseases. Expression of the SERPINA1 gene is regulated by different promoters and alternative splicing events among non-coding exons 1A, 1B and 1C.
methodsWe have developed three quantitative PCR (QT-PCR) assays (1A, 1B and 1C). These assays were applied for the analysis of SERPINA1 alternative transcripts in: (1) 16 human tissues and (2) peripheral blood leukocytes from 33 subjects with AAT mutations and 7 controls.
resultsTissue-specific expression was found for the SERPINA1 transcripts. The 1A transcripts were mainly expressed in leukocytes and lung tissue while those detected with the 1B assay were highly restricted to leukocytes. Only 1B transcripts significantly correlated with serum AAT levels. The 1C transcripts were specifically found in lung, liver, kidney and pancreas. Furthermore, the expression of transcripts was related to AAT genotypes. While deficient variants of AAT had no pronounced effect on the transcript expression, null alleles were associated with significant reduction of different transcripts.
conclusionsThe possibility to discriminate between SERPINA1 alternative splicing products will help us to understand better the regulation of SERPINA1 gene and its association with SERPINA1 mutations-related diseases.
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