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References from Pushing the Boundaries of Knowledge in Alpha-1 Antitrypsin Deficiency. Local targets link to admitted publications; unresolved targets remain external evidence.
Alpha1-antitrypsin deficiency
10.1056/nejmra1910234 · 2020 · External reference
Development of a small molecule that corrects misfolding and increases secretion of Z α1-antitrypsin
10.15252/emmm.202013167 · 2021 · External reference
α1-Antitrypsin deficiency
10.1016/s0140-6736(05)66781-5 · 2005 · External reference
Alpha-1 antitrypsin deficiency: outstanding questions and future directions
10.1186/s13023-018-0856-9 · 2018 · External reference
Alpha-1 antitrypsin deficiency
10.1016/j.medcli.2023.10.014 · 2024 · External reference
European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency
10.1183/13993003.00610-2017 · 2017 · External reference
Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update
10.2147/copd.s125389 · 2017 · External reference
Decalogue of best practices in alpha-1 antitrypsin deficiency
10.1016/j.opresp.2026.100606 · 2026 · External reference
Fazirsiran for the treatment of alpha-1 antitrypsin deficiency-associated liver disease findings from the SEQUOIA phase 2 trial
10.1097/ms9.0000000000003393 · 2025 · External reference
Fazirsiran for liver disease associated with alpha1-antitrypsin deficiency
10.1056/nejmoa2205416 · 2022 · External reference
Update on alpha-1 antitrypsin deficiency: new therapies
10.1016/j.jhep.2016.03.010 · 2016 · External reference
Evidence for unfolded protein response activation in monocytes from individuals with alpha-1 antitrypsin deficiency
10.4049/jimmunol.0802864 · 2010 · External reference
α1-Antitrypsin polymerizes in alveolar macrophages of smokers with and without α1-antitrypsin deficiency
10.1016/j.chest.2018.04.039 · 2018 · External reference
The role of bronchial epithelial cells in the pathogenesis of COPD in Z-alpha-1 antitrypsin deficiency
10.1186/s12931-014-0112-3 · 2014 · External reference
Oxidative stress and endoplasmic reticulum stress in rare respiratory diseases
10.3390/jcm10061268 · 2021 · External reference
Known mutations at the cause of alpha-1 antitrypsin deficiency an updated overview of SERPINA1 variation spectrum
10.2147/tacg.s257511 · 2021 · External reference
Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency
10.1186/s12931-025-03486-1 · 2026 · External reference
Comprehensive clinical diagnostic pipelines reveal new variants in alpha-1 antitrypsin deficiency
10.1165/rcmb.2022-0470oc · 2023 · External reference
The phenotypic state of biallelic SERPINA1 Q0 variants in α1-antitrypsin deficiency
10.1183/23120541.00228-2025 · 2025 · External reference
The structural basis for Z α1-antitrypsin polymerization in the liver
10.1126/sciadv.abc1370 · 2020 · External reference
The significance of the F variant of alpha-1-antitrypsin and unique case report of a PiFF homozygote
10.1186/1471-2466-14-132 · 2014 · External reference
Effect of cigarette smoke exposure and structural modifications on the α-1 antitrypsin interaction with caspases
10.2119/molmed.2011.00207 · 2012 · External reference
Alpha-1 antitrypsin and lung cell apoptosis
2016 · External reference
Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes
10.1080/25310429.2024.2429911 · 2025 · External reference
Deep visual proteomics maps proteotoxicity in a genetic liver disease
10.1038/s41586-025-08885-4 · 2025 · External reference
Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency
10.1038/s41588-025-02125-1 · 2025 · External reference
Sex-differences in alpha-1 antitrypsin deficiency: data from the EARCO Registry
10.1016/j.arbres.2024.06.019 · 2025 · External reference
American Thoracic Society/European Respiratory Society Statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency
10.1164/rccm.168.7.818 · 2003 · External reference
Long-term evolution of lung function in individuals with alpha-1 antitrypsin deficiency from the Spanish registry (REDAAT)
10.2147/copd.s155226 · 2018 · External reference
Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry
10.1186/s12931-022-02275-4 · 2022 · External reference
Alpha-1 antitrypsin deficiency: PI*Mpalermo and PI*Siiyama, current damage and future risk
10.1111/ped.15269 · 2022 · External reference
Pattern of emphysema distribution in α1-antitrypsin deficiency influences lung function impairment
10.1164/rccm.200406-761oc · 2004 · External reference
Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency
10.1136/thx.2006.075846 · 2007 · External reference
Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency
10.1016/s8756-3452(08)79052-2 · 2009 · External reference
Diagnosis of alpha-1 antitrypsin deficiency (AATD) in primary care
10.1016/j.opresp.2024.100310 · 2024 · External reference
The diagnosis and management of alpha-1 antitrypsin deficiency in the adult
2016 · External reference
Alpha-1-antitrypsin deficiency: increasing awareness and improving diagnosis
10.1177/1753465815602162 · 2016 · External reference
Trends in the diagnosis of symptomatic patients with (1-antitrypsin deficiency between 1968 and 2003
10.1378/chest.128.3.1179 · 2005 · External reference
Resultados de la implementación de un programa de detección de casos de déficit de alfa-1 antitripsina en pacientes con EPOC
10.1016/j.opresp.2023.100251 · 2023 · External reference
Haplotype-aware detection of SERPINA1 variants by nanopore sequencing
10.1016/j.jmoldx.2024.08.002 · 2024 · External reference
Alpha-1 antitrypsin deficiency-associated chronic obstructive pulmonary disease
10.3390/medicina62040639 · 2026 · External reference
Results of a diagnostic procedure based on multiplex technology on dried blood spots and buccal swabs for subjects with suspected alpha1 antitrypsin deficiency
10.1016/j.arbres.2020.04.014 · 2021 · External reference
Diagnosis of alpha-1 antitrypsin deficiency: limitations of rapid diagnostic laboratory tests
10.1016/j.arbr.2011.02.012 · 2011 · External reference
Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis
10.1186/s12931-022-02074-x · 2022 · External reference
Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network
10.1186/s40246-023-00497-1 · 2023 · External reference
Augmentation therapy for alpha1 antitrypsin deficiency: a meta-analysis
10.1080/15412550902905961 · 2009 · External reference
Exploring the role of CT densitometry: a randomised study of augmentation therapy in alpha1-antitrypsin deficiency
10.1183/09031936.00159408 · 2009 · External reference
Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial
10.1016/s0140-6736(15)60860-1 · 2015 · External reference
Desmosine as a biomarker of elastin degradation in COPD: current status and future directions
10.1183/09031936.00174807 · 2008 · External reference
The effect of alpha-1 proteinase inhibitor on biomarkers of elastin degradation in alpha-1 antitrypsin deficiency: an analysis of the RAPID/RAPID extension trials
2017 · External reference
Serum desmosine is associated with long-term all-cause and cardiovascular mortality in bronchiectasis
10.1164/rccm.202002-0434le · 2020 · External reference
Circulating desmosine levels do not predict emphysema progression but are associated with cardiovascular risk and mortality in COPD
10.1183/13993003.01824-2015 · 2016 · External reference
The fibrinogen cleavage product Aα-Val360, a specific marker of neutrophil elastase activity in vivo
10.1136/thx.2010.154690 · 2011 · External reference
A-Val360: a marker of neutrophil elastase and COPD disease activity
10.1183/09031936.00197411 · 2012 · External reference
The relationship between plasma alpha-1-antitrypsin polymers and lung or liver function in ZZ alpha-1-antitrypsin-deficient patients
10.3390/biom12030380 · 2022 · External reference
The relationship of the fibrinogen cleavage biomarker Aa-Val360 with disease severity and activity in α1-antitrypsin deficiency
10.1378/chest.14-0520 · 2015 · External reference
Plasma fibrinogen qualification as a drug development tool in chronic obstructive pulmonary disease: perspective of the chronic obstructive pulmonary disease biomarker qualification consortium
10.1164/rccm.201509-1722pp · 2016 · External reference
Persistent systemic inflammation is associated with poor clinical outcomes in COPD: a novel phenotype
10.1371/journal.pone.0037483 · 2012 · External reference
COPD association and repeatability of blood biomarkers in the ECLIPSE cohort
10.1186/1465-9921-12-146 · 2011 · External reference
Routine blood biomarkers and lung disease in patients with alpha-1 antitrypsin deficiency from the EARCO Registry
10.1159/000548597 · 2026 · External reference
Routine Blood Biomarkers in Patients With the PI*SZ Genotype of Alpha-1 Antitrypsin Deficiency: Data From the EARCO Registry
10.1016/j.arbres.2025.12.013 · 2026 · External reference
Predicting lung function using biomarkers in alpha-1 antitrypsin deficiency
10.3390/biomedicines11072001 · 2023 · External reference
Relation between circulating CC16 concentrations, lung function, and development of chronic obstructive pulmonary disease across the lifespan: a prospective study
10.1016/s2213-2600(15)00196-4 · 2015 · External reference
Unique and shared systemic biomarkers for emphysema in Alpha-1 Antitrypsin deficiency and chronic obstructive pulmonary disease
10.1016/j.ebiom.2022.104262 · 2022 · External reference
Liver fibrosis and metabolic alterations in adults with alpha-1-antitrypsin deficiency caused by the Pi*ZZ mutation
10.1053/j.gastro.2019.05.013 · 2019 · External reference
Liver test results do not identify liver disease in adults with α1-antitrypsin deficiency
10.1016/j.cgh.2012.07.007 · 2012 · External reference
Utility of transient elastography for the screening of liver disease in patients with alpha1-antitrypsin deficiency
10.3390/jcm10081724 · 2021 · External reference
Non-invasive assessment and management of liver involvement in adults with alpha-1 antitrypsin deficiency
2020 · External reference
EASL-EASD-EASO clinical practice guidelines on the management of metabolic dysfunction-associated steatotic liver disease (MASLD)
10.1016/j.jhep.2024.04.031 · 2024 · External reference
EASL Clinical Practice Guidelines on non-invasive tests for evaluation of liver disease severity and prognosis – 2021 update
10.1016/j.jhep.2021.05.025 · 2021 · External reference
Multi-society expert panel consensus guidance regarding clinical assessment and clinical trial endpoints in adults with alpha-1 antitrypsin deficiency-associated liver disease
10.1053/j.gastro.2025.12.012 · 2026 · External reference
Association between circulating alpha-1 antitrypsin polymers and lung and liver disease
10.1186/s12931-021-01842-5 · 2021 · External reference
The alpha-1 antitrypsin polymer load correlates with hepatocyte senescence fibrosis stage and liver-related mortality
2020 · External reference
Fibrosis, biomarkers and liver biopsy in AAT deficiency and relation to liver Z protein polymer accumulation
10.1111/liv.16094 · 2024 · External reference
Alpha-1 antitrypsin deficiency: a re-surfacing adult liver disorder
10.1016/j.jhep.2021.11.022 · 2022 · External reference
The mechanism of Z α1-antitrypsin accumulation in the liver
10.1038/357605a0 · 1992 · External reference
Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort
10.1016/j.jhep.2018.08.005 · 2018 · External reference
Association of circulating Z-polymer with adverse clinical outcomes and liver fibrosis in adults with alpha-1 antitrypsin deficiency
10.1002/ueg2.12629 · 2024 · External reference
Circulating C-terminal peptides and polymers of alpha-1 antitrypsin as putative markers of pediatric Pi*ZZ liver disease
10.3389/fped.2025.1717317 · 2025 · External reference
The proteasome participates in degradation of mutant alpha 1-antitrypsin Z in the endoplasmic reticulum of hepatoma-derived hepatocytes
10.1074/jbc.m103703200 · 2001 · External reference
An autophagy-enhancing drug promotes degradation of mutant α1-antitrypsin Z and reduces hepatic fibrosis
10.1126/science.1190354 · 2010 · External reference
Cellular models for the serpinopathies
10.1007/978-1-4939-8645-3_7 · 2018 · External reference
Recombinant production of native human α-1-antitrypsin protein in the liver HepG2 cells
10.1007/s10529-016-2150-z · 2016 · External reference
The unfolded protein response to PI*Z alpha-1 antitrypsin in human hepatocellular and murine models
10.1002/hep4.1997 · 2022 · External reference
Production of hepatocyte-like cells from human pluripotent stem cells
10.1038/nprot.2012.153 · 2013 · External reference
Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells
10.1038/nature10424 · 2011 · External reference
Induced pluripotent stem cells model personalized variations in liver disease resulting from α1-antitrypsin deficiency
10.1002/hep.27753 · 2015 · External reference
Patient-derived induced pluripotent stem cells for alpha-1 antitrypsin deficiency disease modeling and therapeutic discovery
2018 · External reference
Long-term culture of genome-stable bipotent stem cells from adult human liver
10.1016/j.cell.2014.11.050 · 2015 · External reference
Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease
10.1007/s12072-019-10007-y · 2020 · External reference
Human iPSC-hepatocyte modeling of alpha-1 antitrypsin heterozygosity reveals metabolic dysregulation and cellular heterogeneity
10.1016/j.celrep.2022.111775 · 2022 · External reference
Quantitative lipid profiling reveals major differences between liver organoids with normal Pi*M and deficient Pi*Z variants of alpha-1-antitrypsin
10.3390/ijms241512472 · 2023 · External reference
Accumulation of PiZ alpha 1-antitrypsin causes liver damage in transgenic mice
10.1172/jci113999 · 1989 · External reference
Efficient and targeted transduction of nonhuman primate liver with systemically delivered optimized AAV3B vectors
10.1038/mt.2015.174 · 2015 · External reference
Alpha-1-antitrypsin deficiency: A new paradigm for hepatocellular carcinoma in genetic liver disease
10.1002/hep.20815 · 2005 · External reference
Editing out five Serpina1 paralogs to create a mouse model of genetic emphysema
10.1073/pnas.1713689115 · 2018 · External reference
Advances in Precision Editing Therapies for Alpha-1 Antitrypsin Deficiency
10.1177/10430342261417356 · 2026 · External reference
Amelioration of alpha-1 antitrypsin deficiency diseases with genome editing in transgenic mice
10.1089/hum.2017.227 · 2018 · External reference
Survival advantage of both human hepatocyte xenografts and genome-edited hepatocytes for treatment of α-1 antitrypsin deficiency
10.1016/j.ymthe.2017.09.020 · 2017 · External reference
Human 1-antitrypsin gene transfer to in vivo mouse hepatocytes
10.1089/hum.1996.7.4-531 · 1996 · External reference
Asialofetuin liposome-mediated human alpha1-antitrypsin gene transfer in vivo results in stationary long-term gene expression
10.1007/s001090000185 · 2001 · External reference
Hydrodynamic liver gene transfer mechanism involves transient sinusoidal blood stasis and massive hepatocyte endocytic vesicles
10.1038/sj.gt.3302469 · 2005 · External reference
Long-term therapeutic levels of human alpha-1 antitrypsin in plasma after hydrodynamic injection of nonviral DNA
10.1038/sj.gt.3302065 · 2003 · External reference
A compact base editor rescues AATD-associated liver and lung disease in mouse models
10.1016/j.ymthe.2025.08.040 · 2025 · External reference
Adenine base editing reduces misfolded protein accumulation and toxicity in alpha-1 antitrypsin deficient patient iPSC-hepatocytes
10.1016/j.ymthe.2021.06.021 · 2021 · External reference
Gene therapy for alpha-1 antitrypsin deficiency: an update
10.1080/14712598.2023.2183771 · 2023 · External reference
Editing approaches to treat alpha-1 antitrypsin deficiency
10.1016/j.chest.2024.09.038 · 2025 · External reference
RNA editing for the treatment of alpha-1 antitrypsin deficiency
10.1093/nar/gkaf1518 · 2026 · External reference
Alpha-1 antitrypsin deficiency: genetics, clinical manifestations, AI prognostics, and advanced imaging in liver disease
10.1097/ms9.0000000000003913 · 2025 · External reference
Alpha 1-antitrypsin deficiency: a disorder of proteostasis-mediated protein folding and trafficking pathways
10.3390/ijms21041493 · 2020 · External reference
Pharmacological activation of ATF6 remodels the proteostasis network to rescue pathogenic GABAA receptors
10.1186/s13578-022-00783-w · 2022 · External reference
Capturing the conversion of the pathogenic alpha-1-antitrypsin fold by ATF6 enhanced proteostasis
10.1016/j.chembiol.2022.12.004 · 2023 · External reference
Repopulation of the fibrotic/cirrhotic rat liver by transplanted hepatic stem/progenitor cells and mature hepatocytes
10.1002/hep.26615 · 2014 · External reference
Mechanisms of emphysema in α1-antitrypsin deficiency: molecular and cellular insights
10.1183/09031936.00096508 · 2009 · External reference
Paucimannose-rich N-glycosylation of spatiotemporally regulated human neutrophil elastase modulates its immune functions
10.1074/mcp.m116.066746 · 2017 · External reference
Human neutrophil elastase inhibitors: classification, biological-synthetic sources and their relevance in related diseases
10.1111/fcp.12946 · 2024 · External reference
Research progress on the effect of neutrophil elastase and its inhibitors in respiratory diseases
2025 · External reference
Neutrophil elastase inhibitor (Sivelestat) in the treatment of acute respiratory distress syndrome induced by COVID-19: a multicenter retrospective cohort study
10.1186/s12931-025-03100-4 · 2025 · External reference
Single dose escalation studies with inhaled POL6014, a potent novel selective reversible inhibitor of human neutrophil elastase, in healthy volunteers and subjects with cystic fibrosis
10.1016/j.jcf.2019.08.020 · 2020 · External reference
Sirtinol inhibits neutrophil elastase activity and attenuates lipopolysaccharide-mediated acute lung injury in mice
10.1038/srep08347 · 2015 · External reference
AZD9668: pharmacological characterization of a novel oral inhibitor of neutrophil elastase
10.1124/jpet.111.182139 · 2011 · External reference
Pharmacokinetics and safety of AZD9668, an oral neutrophil elastase inhibitor, in healthy volunteers and patients with COPD
10.5414/cp201674 · 2013 · External reference
Two randomised controlled phase 2 studies of the oral neutrophil elastase inhibitor alvelestat in alpha-1 antitrypsin deficiency
10.1183/13993003.01019-2025 · 2025 · External reference
Feasibility of a clinical trial of augmentation therapy for α1-antitrypsin deficiency
10.1164/ajrccm.161.3.9906011 · 2000 · External reference
SERPINA1 and more? A putative genetic contributor to pulmonary dysfunction in alpha-1 antitrypsin deficiency
10.3390/jcm12051708 · 2023 · External reference
SERPINA1 gene promoter is differentially methylated in peripheral blood mononuclear cells of pregnant women
10.3389/fcell.2020.550543 · 2020 · External reference
Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency
10.1186/s12967-015-0585-y · 2015 · External reference
An RNA structure-mediated, posttranscriptional model of human α-1-antitrypsin expression
10.1073/pnas.1706539114 · 2017 · External reference
miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease
2020 · External reference
