Published in N Engl J Med on January 03, 2002
Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency. Thorax (2004) 1.89
Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis (2004) 1.86
alpha-1 antitrypsin inhibits caspase-3 activity, preventing lung endothelial cell apoptosis. Am J Pathol (2006) 1.81
Alpha1-antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy. J Clin Invest (2002) 1.78
The protective and destructive roles played by molecular chaperones during ERAD (endoplasmic-reticulum-associated degradation). Biochem J (2007) 1.74
A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation. Genome Res (2005) 1.52
Adipose tissue-derived mesenchymal stem cell-based liver gene delivery. J Hepatol (2010) 1.50
Increased production of sonic hedgehog by ballooned hepatocytes. J Pathol (2011) 1.48
Simultaneous phenotyping and quantification of α-1-antitrypsin by liquid chromatography-tandem mass spectrometry. Clin Chem (2011) 1.45
Organizational diversity among distinct glycoprotein endoplasmic reticulum-associated degradation programs. Mol Biol Cell (2002) 1.34
Hereditary alpha-1-antitrypsin deficiency and its clinical consequences. Orphanet J Rare Dis (2008) 1.27
Efficient and allele-specific genome editing of disease loci in human iPSCs. Mol Ther (2014) 1.25
Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract. Exp Eye Res (2008) 1.24
Mutant forms of tumour necrosis factor receptor I that occur in TNF-receptor-associated periodic syndrome retain signalling functions but show abnormal behaviour. Immunology (2004) 1.22
Alpha1-antitrypsin deficiency. 4: Molecular pathophysiology. Thorax (2004) 1.18
Serpina1 is a potent inhibitor of IL-8-induced hematopoietic stem cell mobilization. Proc Natl Acad Sci U S A (2006) 1.17
Protein misfolding disorders: pathogenesis and intervention. J Inherit Metab Dis (2006) 1.17
Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed. Environ Health Perspect (2003) 1.15
Overexpression of squamous cell carcinoma antigen variants in hepatocellular carcinoma. Br J Cancer (2004) 1.14
L-asparaginase-induced antithrombin type I deficiency: implications for conformational diseases. Am J Pathol (2006) 1.03
Anti-inflammatory and immunomodulatory properties of α1-antitrypsin without inhibition of elastase. Proc Natl Acad Sci U S A (2013) 1.02
Prolastin, a pharmaceutical preparation of purified human alpha1-antitrypsin, blocks endotoxin-mediated cytokine release. Respir Res (2005) 1.01
Alpha-1-antitrypsin deficiency: current concepts. Lung (2007) 1.00
Serpin peptidase inhibitor clade A member 1 (SerpinA1) is a novel biomarker for progression of cutaneous squamous cell carcinoma. Am J Pathol (2011) 0.97
Alpha1-antitrypsin inhibits the activity of the matriptase catalytic domain in vitro. Am J Respir Cell Mol Biol (2008) 0.97
Alpha(1)-antitrypsin inhibits epithelial Na+ transport in vitro and in vivo. Am J Respir Cell Mol Biol (2009) 0.96
Alpha-1 antitrypsin deficiency: a conformational disease associated with lung and liver manifestations. J Inherit Metab Dis (2008) 0.95
A nonsense polymorphism in the protein Z-dependent protease inhibitor increases the risk for venous thrombosis. Blood (2006) 0.94
Inter-α-inhibitor blocks epithelial sodium channel activation and decreases nasal potential differences in ΔF508 mice. Am J Respir Cell Mol Biol (2014) 0.92
ADD66, a gene involved in the endoplasmic reticulum-associated degradation of alpha-1-antitrypsin-Z in yeast, facilitates proteasome activity and assembly. Mol Biol Cell (2007) 0.91
Alpha-1-antitrypsin in pathogenesis of hepatocellular carcinoma. Hepat Mon (2012) 0.86
alpha1-Antitrypsin deficiency . 6: new and emerging treatments for alpha1-antitrypsin deficiency. Thorax (2004) 0.86
Two latent and two hyperstable polymeric forms of human neuroserpin. Biophys J (2010) 0.85
A single-chain variable fragment intrabody prevents intracellular polymerization of Z α1-antitrypsin while allowing its antiproteinase activity. FASEB J (2015) 0.84
Role for cathepsin K in emphysema in smoke-exposed guinea pigs. Exp Lung Res (2009) 0.84
Plasma levels of alpha1-antichymotrypsin and secretory leukocyte proteinase inhibitor in healthy and chronic obstructive pulmonary disease (COPD) subjects with and without severe alpha1-antitrypsin deficiency. BMC Pulm Med (2007) 0.84
Pivotal role for alpha1-antichymotrypsin in skin repair. J Biol Chem (2011) 0.83
Protein misfolding and the serpinopathies. Prion (2007) 0.83
A Pulmonary Perspective on GASPIDs: Granule-Associated Serine Peptidases of Immune Defense. Curr Respir Med Rev (2006) 0.83
Rapid and inexpensive detection of alpha1-antitrypsin deficiency-related alleles S and Z by a real-time polymerase chain reaction suitable for a large-scale population-based screening. J Mol Diagn (2007) 0.83
Gene targeted therapeutics for liver disease in alpha-1 antitrypsin deficiency. Biologics (2009) 0.82
Activation of JNK pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin. Hepatology (2017) 0.82
Arginine vasopressin neuronal loss results from autophagy-associated cell death in a mouse model for familial neurohypophysial diabetes insipidus. Cell Death Dis (2014) 0.81
Prevalence of α-1-antitrypsin gene mutations in Saudi Arabia. Saudi J Gastroenterol (2011) 0.81
Serum levels of alpha1-antitrypsin predict phenotypic expression of the alpha1-antitrypsin gene. Dig Dis Sci (2003) 0.80
Intracellular processing of alpha1-antitrypsin. Proc Am Thorac Soc (2010) 0.80
Biochemical and structural insights into mesotrypsin: an unusual human trypsin. Int J Biochem Mol Biol (2013) 0.80
Single-molecule Force Spectroscopy Predicts a Misfolded, Domain-swapped Conformation in human γD-Crystallin Protein. J Biol Chem (2015) 0.80
Clinical utility gene card for: α-1-antitrypsin deficiency. Eur J Hum Genet (2011) 0.80
Amyloid associated with elastin-staining laminar aggregates in the lungs of patients diagnosed with acute respiratory distress syndrome. BMC Pulm Med (2002) 0.79
Preparation of active proteins, vaccines and pharmaceuticals as fine powders using supercritical or near-critical fluids. Pharm Res (2008) 0.79
Parker B. Francis lectureship. Antitrypsin deficiency, the serpinopathies, and chronic obstructive pulmonary disease. Proc Am Thorac Soc (2006) 0.79
Hepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen Aguadilla" is present in Arabs. Saudi J Gastroenterol (2014) 0.78
Heparin oligosaccharides as potential therapeutic agents in senile dementia. Curr Pharm Des (2007) 0.78
Low Serum Alpha-1 Antitrypsin (AAT) in Family Members of Individuals with Autism Correlates with PiMZ Genotype. Biomark Insights (2009) 0.78
A novel alpha1-antitrypsin null variant (PiQ0Milano ). World J Hepatol (2013) 0.78
[Alpha1-antitrypsin deficiency]. Internist (Berl) (2010) 0.77
Molecular Mechanism of Z α1-Antitrypsin Deficiency. J Biol Chem (2016) 0.76
Dysfunctional glycogen storage in a mouse model of alpha1-antitrypsin deficiency. Am J Respir Cell Mol Biol (2008) 0.76
Environmental, occupational, and genetic risk factors for alpha-1 antitrypsin deficiency. Environ Health Perspect (2003) 0.75
SP-A binds alpha1-antitrypsin in vitro and reduces the association rate constant for neutrophil elastase. Respir Res (2005) 0.75
How to identify the genetic basis of gastrointestinal and liver diseases? Gut (2003) 0.75
Proceedings of the 10th Asian Pacific Congress of Clinical Biochemistry in conjunction with the Australasian Association of Clinical Biochemists' 42nd Annual Scientific Conference. Clin Biochem Rev (2004) 0.75
The aggregation-prone intracellular serpin SRP-2 fails to transit the ER in Caenorhabditis elegans. Genetics (2015) 0.75
Costs and health-related quality of life in Alpha-1-Antitrypsin Deficient COPD patients. Respir Res (2017) 0.75
Alpha-1-antitrypsin augmentation treatment: does one size fit all? Thorax (2006) 0.75
Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients. Genet Mol Biol (2010) 0.75
Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease. Hum Mol Genet (2015) 0.75
Alpha1-Antitrypsin Attenuates Renal Fibrosis by Inhibiting TGF-β1-Induced Epithelial Mesenchymal Transition. PLoS One (2016) 0.75
α1-antitrypsin deficiency and the hepatocytes - an elegans solution to drug discovery. Int J Biochem Cell Biol (2013) 0.75
The parallel lives of alpha1-antitrypsin deficiency and pulmonary alveolar proteinosis. Orphanet J Rare Dis (2013) 0.75
Erdj3 has an essential role for Z variant Alpha-1-Antitrypsin Degradation. J Cell Biochem (2017) 0.75
Artificial DnaJ Protein for protein production and conformational diseases. Sci Rep (2017) 0.75
Induced fit is a special case of conformational selection. Biochemistry (2017) 0.75
Susceptibility to exacerbation in chronic obstructive pulmonary disease. N Engl J Med (2010) 15.07
A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. PLoS Genet (2009) 6.93
Changes in forced expiratory volume in 1 second over time in COPD. N Engl J Med (2011) 5.69
Characterisation of COPD heterogeneity in the ECLIPSE cohort. Respir Res (2010) 5.17
Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells. Nature (2011) 4.92
Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells. J Clin Invest (2010) 3.91
Airway wall thickening and emphysema show independent familial aggregation in chronic obstructive pulmonary disease. Am J Respir Crit Care Med (2008) 3.70
Acute exacerbations of chronic obstructive pulmonary disease: identification of biologic clusters and their biomarkers. Am J Respir Crit Care Med (2011) 3.58
Variants in FAM13A are associated with chronic obstructive pulmonary disease. Nat Genet (2010) 3.44
Six-minute-walk test in chronic obstructive pulmonary disease: minimal clinically important difference for death or hospitalization. Am J Respir Crit Care Med (2012) 3.44
The SERPINE2 gene is associated with chronic obstructive pulmonary disease in two large populations. Am J Respir Crit Care Med (2007) 2.91
Persistent systemic inflammation is associated with poor clinical outcomes in COPD: a novel phenotype. PLoS One (2012) 2.52
Systematic in vivo analysis of the intrinsic determinants of amyloid Beta pathogenicity. PLoS Biol (2007) 2.35
Cigarette smoking behaviors and time since quitting are associated with differential DNA methylation across the human genome. Hum Mol Genet (2012) 2.24
Conformational pathology of the serpins: themes, variations, and therapeutic strategies. Annu Rev Biochem (2009) 2.19
Association between conformational mutations in neuroserpin and onset and severity of dementia. Lancet (2002) 2.02
Inflammatory biomarkers improve clinical prediction of mortality in chronic obstructive pulmonary disease. Am J Respir Crit Care Med (2012) 1.99
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. Hum Mol Genet (2011) 1.98
Blood eosinophils to direct corticosteroid treatment of exacerbations of chronic obstructive pulmonary disease: a randomized placebo-controlled trial. Am J Respir Crit Care Med (2012) 1.85
Endoplasmic reticulum dysfunction in neurological disease. Lancet Neurol (2013) 1.83
Systemic soluble receptor for advanced glycation endproducts is a biomarker of emphysema and associated with AGER genetic variants in patients with chronic obstructive pulmonary disease. Am J Respir Crit Care Med (2013) 1.79
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. Am J Respir Crit Care Med (2012) 1.72
Bronchodilator responsiveness as a phenotypic characteristic of established chronic obstructive pulmonary disease. Thorax (2012) 1.72
Identification of five chronic obstructive pulmonary disease subgroups with different prognoses in the ECLIPSE cohort using cluster analysis. Ann Am Thorac Soc (2015) 1.72
Characteristics, stability and outcomes of the 2011 GOLD COPD groups in the ECLIPSE cohort. Eur Respir J (2013) 1.66
A novel monoclonal antibody to characterize pathogenic polymers in liver disease associated with alpha1-antitrypsin deficiency. Hepatology (2010) 1.62
Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility gene. Am J Hum Genet (2009) 1.52
Loci identified by genome-wide association studies influence different disease-related phenotypes in chronic obstructive pulmonary disease. Am J Respir Crit Care Med (2010) 1.51
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. Am J Respir Crit Care Med (2012) 1.49
Defining the mechanism of polymerization in the serpinopathies. Proc Natl Acad Sci U S A (2010) 1.48
COPD association and repeatability of blood biomarkers in the ECLIPSE cohort. Respir Res (2011) 1.43
Comorbidity, systemic inflammation and outcomes in the ECLIPSE cohort. Respir Med (2013) 1.41
Polymers of Z alpha1-antitrypsin co-localize with neutrophils in emphysematous alveoli and are chemotactic in vivo. Am J Pathol (2005) 1.36
Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema. Am J Respir Crit Care Med (2010) 1.36
Mutants of neuroserpin that cause dementia accumulate as polymers within the endoplasmic reticulum. J Biol Chem (2004) 1.33
6-mer peptide selectively anneals to a pathogenic serpin conformation and blocks polymerization. Implications for the prevention of Z alpha(1)-antitrypsin-related cirrhosis. J Biol Chem (2001) 1.31
Predicting outcomes from 6-minute walk distance in chronic obstructive pulmonary disease. J Am Med Dir Assoc (2011) 1.28
Variable DNA methylation is associated with chronic obstructive pulmonary disease and lung function. Am J Respir Crit Care Med (2011) 1.26
Serum PARC/CCL-18 concentrations and health outcomes in chronic obstructive pulmonary disease. Am J Respir Crit Care Med (2011) 1.23
Blood fibrinogen as a biomarker of chronic obstructive pulmonary disease. Thorax (2012) 1.23
Fenton chemistry and oxidative stress mediate the toxicity of the beta-amyloid peptide in a Drosophila model of Alzheimer's disease. Eur J Neurosci (2009) 1.23
Polymers of alpha(1)-antitrypsin are chemotactic for human neutrophils: a new paradigm for the pathogenesis of emphysema. Am J Respir Cell Mol Biol (2002) 1.21
Small molecules block the polymerization of Z alpha1-antitrypsin and increase the clearance of intracellular aggregates. J Med Chem (2007) 1.21
Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro. J Biol Chem (2002) 1.21
Should we view chronic obstructive pulmonary disease differently after ECLIPSE? A clinical perspective from the study team. Am J Respir Crit Care Med (2014) 1.20
The intracellular accumulation of polymeric neuroserpin explains the severity of the dementia FENIB. Hum Mol Genet (2008) 1.20
Genome-wide association study of smoking behaviours in patients with COPD. Thorax (2011) 1.18
The association of genome-wide significant spirometric loci with chronic obstructive pulmonary disease susceptibility. Am J Respir Cell Mol Biol (2011) 1.17
Endoplasmic reticulum-associated degradation (ERAD) and autophagy cooperate to degrade polymerogenic mutant serpins. J Biol Chem (2009) 1.14
Neuroserpin binds Abeta and is a neuroprotective component of amyloid plaques in Alzheimer disease. J Biol Chem (2006) 1.14
Genetics of sputum gene expression in chronic obstructive pulmonary disease. PLoS One (2011) 1.11
alpha1-Antitrypsin deficiency, chronic obstructive pulmonary disease and the serpinopathies. Clin Sci (Lond) (2009) 1.09
Neuroserpin Portland (Ser52Arg) is trapped as an inactive intermediate that rapidly forms polymers: implications for the epilepsy seen in the dementia FENIB. Eur J Biochem (2004) 1.08
Metabolic profiling detects biomarkers of protein degradation in COPD patients. Eur Respir J (2011) 1.06
Polymers and inflammation: disease mechanisms of the serpinopathies. J Exp Med (2008) 1.06
The COPD Biomarker Qualification Consortium (CBQC). COPD (2013) 1.06
Probing neuroserpin polymerization and interaction with amyloid-beta peptides using single molecule fluorescence. Biophys J (2009) 1.05
A Drosophila model of Alzheimer's disease. Methods Enzymol (2006) 1.05
Sequestration of the Abeta peptide prevents toxicity and promotes degradation in vivo. PLoS Biol (2010) 1.05
Polymorphisms in surfactant protein-D are associated with chronic obstructive pulmonary disease. Am J Respir Cell Mol Biol (2010) 1.04
The 2.1-A crystal structure of native neuroserpin reveals unique structural elements that contribute to conformational instability. J Mol Biol (2009) 1.04
How small peptides block and reverse serpin polymerisation. J Mol Biol (2004) 1.03
Alzheimer's disease: insights from Drosophila melanogaster models. Trends Biochem Sci (2009) 1.03
Targeted metabolomics identifies perturbations in amino acid metabolism that sub-classify patients with COPD. Mol Biosyst (2012) 1.02
Targeting a surface cavity of alpha 1-antitrypsin to prevent conformational disease. J Biol Chem (2003) 1.02
α₁-Antitrypsin protease inhibitor MZ heterozygosity is associated with airflow obstruction in two large cohorts. Chest (2010) 1.02
Latent S49P neuroserpin forms polymers in the dementia familial encephalopathy with neuroserpin inclusion bodies. J Biol Chem (2005) 1.01
Differential detection of PAS-positive inclusions formed by the Z, Siiyama, and Mmalton variants of alpha1-antitrypsin. Hepatology (2004) 1.01
Association of TRPV4 gene polymorphisms with chronic obstructive pulmonary disease. Hum Mol Genet (2009) 1.01
Detection of early locomotor abnormalities in a Drosophila model of Alzheimer's disease. J Neurosci Methods (2011) 1.00
Evaluating the National Student Association of Medical Research. Med Educ (2014) 1.00
Neuroserpin polymers activate NF-kappaB by a calcium signaling pathway that is independent of the unfolded protein response. J Biol Chem (2009) 1.00
Intrinsic determinants of neurotoxic aggregate formation by the amyloid beta peptide. Biophys J (2010) 0.99
The iFly tracking system for an automated locomotor and behavioural analysis of Drosophila melanogaster. Integr Biol (Camb) (2011) 0.99
Transforming growth factor-beta receptor-3 is associated with pulmonary emphysema. Am J Respir Cell Mol Biol (2009) 0.98
Endoplasmic reticulum polymers impair luminal protein mobility and sensitize to cellular stress in alpha1-antitrypsin deficiency. Hepatology (2013) 0.98
Iron promotes the toxicity of amyloid beta peptide by impeding its ordered aggregation. J Biol Chem (2010) 0.97
The molecular aetiology of the serpinopathies. Int J Biochem Cell Biol (2008) 0.94
Characterisation of serpin polymers in vitro and in vivo. Methods (2010) 0.94
The serpin saga; development of a new class of virus derived anti-inflammatory protein immunotherapeutics. Adv Exp Med Biol (2009) 0.94
Opportunities and challenges in the genetics of COPD 2010: an International COPD Genetics Conference report. COPD (2011) 0.93
Crystallographic and cellular characterisation of two mechanisms stabilising the native fold of alpha1-antitrypsin: implications for disease and drug design. J Mol Biol (2009) 0.93
Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility. Hum Genet (2013) 0.92
Nucleation of alpha 1-antichymotrypsin polymerization. Biochemistry (2003) 0.92
Impaired tissue growth is mediated by checkpoint kinase 1 (CHK1) in the integrated stress response. J Cell Sci (2010) 0.92
Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis. Drug Des Devel Ther (2011) 0.92
The central molecular clock is robust in the face of behavioural arrhythmia in a Drosophila model of Alzheimer's disease. Dis Model Mech (2014) 0.92
Identification of FGF7 as a novel susceptibility locus for chronic obstructive pulmonary disease. Thorax (2011) 0.91
Changes in body composition in patients with chronic obstructive pulmonary disease: do they influence patient-related outcomes? Ann Nutr Metab (2013) 0.91
Genome-wide association analysis of body mass in chronic obstructive pulmonary disease. Am J Respir Cell Mol Biol (2010) 0.90
Alpha1-antitrypsin deficiency and autophagy. N Engl J Med (2010) 0.90
Expression in drosophila of tandem amyloid β peptides provides insights into links between aggregation and neurotoxicity. J Biol Chem (2012) 0.90
Promiscuous beta-strand interactions and the conformational diseases. Curr Med Chem (2004) 0.90
Multistudy fine mapping of chromosome 2q identifies XRCC5 as a chronic obstructive pulmonary disease susceptibility gene. Am J Respir Crit Care Med (2010) 0.89
Drosophila necrotic mutations mirror disease-associated variants of human serpins. Development (2003) 0.89
Gene expression analysis uncovers novel hedgehog interacting protein (HHIP) effects in human bronchial epithelial cells. Genomics (2013) 0.89
The serpinopathies studying serpin polymerization in vivo. Methods Enzymol (2011) 0.89
Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD. Hum Genet (2012) 0.88
SOX5 is a candidate gene for chronic obstructive pulmonary disease susceptibility and is necessary for lung development. Am J Respir Crit Care Med (2011) 0.88
Disease-related amyloidogenic variants of human lysozyme trigger the unfolded protein response and disturb eye development in Drosophila melanogaster. FASEB J (2011) 0.87