The cellular basis for liver injury in α1-antitrypsin deficiency

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

1985 • 9,128 citations

HUMAN PLASMA PROTEINASE INHIBITORS

1983 • 2,129 citations

Rapid redistribution of Golgi proteins into the ER in cells treated with brefeldin A: Evidence for membrane cycling from Golgi to ER

1989 • 1,685 citations

Interferon beta 2/B-cell stimulatory factor type 2 shares identity with monocyte-derived hepatocyte-stimulating factor and regulates the major acute phase protein response in liver cells.

1987 • 1,667 citations

An hsp70-like protein in the ER: Identity with the 78 kd glucose-regulated protein and immunoglobulin heavy chain binding protein

1986 • 1,457 citations

The Electrophoretic α;₁-Globulin Pattern of Serum in α;₁-Antitrypsin Deficiency

1963 • 1,400 citations

Human Proto-Oncogene c- jun Encodes a DNA Binding Protein with Structural and Functional Properties of Transcription Factor AP-1

1987 • 1,353 citations

The presence of malfolded proteins in the endoplasmic reticulum signals the induction of glucose-regulated proteins

1988 • 1,292 citations

Microtubule-dependent retrograde transport of proteins into the ER in the presence of brefeldin a suggests an ER recycling pathway

1990 • 972 citations

Oncogene jun encodes a sequence-specific trans- activator similar to AP-1

1988 • 940 citations

Abnormal Proteins Serve as Eukaryotic Stress Signals and Trigger the Activation of Heat Shock Genes

1986 • 904 citations

Implications of the three-dimensional structure of .alpha.1-antitrypsin for structure and function of serpins

1989 • 898 citations

Polypeptide chain binding proteins: Catalysts of protein folding and related processes in cells

1989 • 884 citations

Liver Disease in Alpha₁-Antitrypsin Deficiency Detected by Screening of 200,000 Infants

1976 • 787 citations

Human α1-proteinase inhibitor

1984 • 773 citations

The Metabolic Basis of Inherited Disease

1983 • 757 citations

Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder.

1969 • 702 citations

Multiple upstream AUG codons mediate translational control of GCN4

1986 • 654 citations

Replacement Therapy for Alpha₁-Antitrypsin Deficiency Associated with Emphysema

1987 • 640 citations

Structure and variation of human α1–antitrypsin

1982 • 616 citations

Common DNA binding site for Fos protein complexesand transcription factor AP-1

1988 • 613 citations

Treatment of Hereditary Angioedema with Danazol

1976 • 595 citations

Cachectin/tumor necrosis factor regulates hepatic acute-phase gene expression.

1986 • 585 citations

Risk of Cirrhosis and Primary Liver Cancer in Alpha₁-Antitrypsin Deficiency

1986 • 582 citations

The effect of amino acid analogues and heat shock on gene expression in chicken embryo fibroblasts

1978 • 547 citations

The rate of bulk flow from the endoplasmic reticulum to the cell surface

1987 • 542 citations

Molecular basis of alpha-1-antitrypsin deficiency

1988 • 505 citations

Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy.

1990 • 500 citations

Natural History and Life Expectancy in Severe Alpha₁‐Antitrypsin Deficiency, Pi Z

1978 • 493 citations

The liver-specific transcription factor LF-B1 contains a highly diverged homeobox DNA binding domain

1989 • 490 citations

Studies in alpha 1-antitrypsin deficiency.

1965 • 449 citations

Antielastases of the human alveolar structures. Implications for the protease-antiprotease theory of emphysema.

1981 • 441 citations

Hepatoma secretory proteins migrate from rough endoplasmic reticulum to Golgi at characteristic rates

1983 • 436 citations

Mutation of Antitrypsin to Antithrombin

1983 • 430 citations

Complete sequence of the cDNA for human .alpha.1-antitrypsin and the gene for the S variant

1984 • 396 citations

Sequential Changes of Plasma Proteins after Surgical Trauma

1972 • 358 citations

Human major histocompatibility complex contains genes for the major heat shock protein HSP70.

1989 • 336 citations

Accumulation of PiZ alpha 1-antitrypsin causes liver damage in transgenic mice.

1989 • 318 citations

Pediatric gastrointestinal disease

2005 • 309 citations

SMOKING, LUNG FUNCTION, AND α1-ANTITRYPSIN DEFICIENCY

1985 • 304 citations

ERp99, an abundant, conserved glycoprotein of the endoplasmic reticulum, is homologous to the 90-kDa heat shock protein (hsp90) and the 94-kDa glucose regulated protein (GRP94).

1987 • 294 citations

In vitro suppression of serum elastase-inhibitory capacity by reactive oxygen species generated by phagocytosing polymorphonuclear leukocytes.

1979 • 293 citations

α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

1983 • 277 citations

alpha 1-Antitrypsin: molecular pathology, leukocytes, and tissue damage.

1986 • 276 citations

Identification by anti-idiotype antibodies of an intracellular membrane protein that recognizes a mammalian endoplasmic reticulum retention signal

1990 • 248 citations

Glucose removal from N-linked oligosaccharides is required for efficient maturation of certain secretory glycoproteins from the rough endoplasmic reticulum to the Golgi complex.

1984 • 242 citations

The Natural History of Liver Disease in (α₁‐Antitrypsin Deficient Children

1988 • 242 citations

Pre-Golgi degradation of newly synthesized T-cell antigen receptor chains: intrinsic sensitivity and the role of subunit assembly.

1989 • 228 citations

A Peptide Sequence Confers Retention and Rapid Degradation in the Endoplasmic Reticulum

1990 • 219 citations

Alpha1antitrypsin deficiency: The clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi type Z

1983 • 218 citations

Z-type alpha 1-antitrypsin is less competent than M1-type alpha 1-antitrypsin as an inhibitor of neutrophil elastase.

1987 • 207 citations

Expression of the alpha 1-proteinase inhibitor gene in human monocytes and macrophages.

1985 • 204 citations

Heterozygous MZ Alpha1-Antitrypsin Deficiency in Adults with Chronic Active Hepatitis and Cryptogenic Cirrhosis

1981 • 200 citations

The human alpha 1-antitrypsin gene is transcribed from two different promoters in macrophages and hepatocytes.

1987 • 196 citations

Intestinal clearance of α1-antitrypsin

1981 • 194 citations

Identification of a serpin-enzyme complex receptor on human hepatoma cells and human monocytes.

1990 • 190 citations

Alpha-1-Antitrypsin Deficiency

1971 • 187 citations

Amino acid substitution Glu→Lys in α₁‐antitrypsin PiZ

1976 • 180 citations

Expression of the alpha-1-antitrypsin gene in mononuclear phagocytes of normal and alpha-1-antitrypsin-deficient individuals.

1986 • 178 citations

Protease and elastase of Pseudomonas aeruginosa: inactivation of human plasma alpha 1-proteinase inhibitor

1979 • 178 citations

Cis- and trans-acting elements responsible for the cell-specific expression of the human alpha 1-antitrypsin gene.

1987 • 178 citations

A Comparison of Plasma Protein Changes Induced by Danazol, Pregnancy, and Estrogens*

1979 • 174 citations

Molecular abnormality of human alpha1-antitrypsin variant (Pi-ZZ) associated with plasma activity deficiency.

1976 • 172 citations

Alpha 1-proteinase inhibitor is a neutrophil chemoattractant after proteolytic inactivation by macrophage elastase.

1988 • 170 citations

Oxidants spontaneously released by alveolar macrophages of cigarette smokers can inactivate the active site of alpha 1-antitrypsin, rendering it ineffective as an inhibitor of neutrophil elastase.

1987 • 162 citations

Orthotopic Liver Transplantation in Children: Two-Year Experience with 47 Patients

1984 • 154 citations

Multiple tissues express alpha 1-antitrypsin in transgenic mice and man.

1988 • 153 citations

Amino acid control of autophagic sequestration and protein degradation in isolated rat hepatocytes.

1984 • 150 citations

Liver Transplantation for Advanced Liver Disease with Alpha-1antitrypsin Deficiency

1980 • 144 citations

The inhibitory complex of human alpha 1-proteinase inhibitor and human leukocyte elastase is a neutrophil chemoattractant.

1988 • 139 citations

Neonatal Hepatitis Induced by α ₁ -Antitrypsin: a Transgenic Mouse Model

1988 • 139 citations

α ₁ -Antitrypsin Deficiency: A Variant with No Detectable α ₁ -Antitrypsin

1973 • 138 citations

Clonal Gene Therapy: Transplanted Mouse Fibroblast Clones Express Human α1-Antitrypsin Gene in Vivo

1987 • 137 citations

Class I and class II major histocompatibility complex antigen expression on hepatocytes: A study in children with liver disease

1990 • 132 citations

Species- and tissue-specific expression of human alpha 1-antitrypsin in transgenic mice.

1987 • 126 citations

Regulation of Class III Major Histocompatibility Complex Gene Products by Interleukin-1

1986 • 125 citations

Studies of hepatic synthesis in vivo of plasma proteins, including orosomucoid, transferrin, α-antitrypsin, C8, and factor B

1980 • 122 citations

Endocytosis and degradation of alpha 1-antitrypsin-protease complexes is mediated by the serpin-enzyme complex (SEC) receptor.

1990 • 121 citations

Interferon beta 2/interleukin 6 modulates synthesis of alpha 1-antitrypsin in human mononuclear phagocytes and in human hepatoma cells.

1989 • 120 citations

Molecular Basis of the Liver and Lung Disease Associated with the α1-Antitrypsin Deficiency Allele Mmalton

1989 • 112 citations

Intracellular degradation of the transport-impaired human PiZ alpha 1-antitrypsin variant. Biochemical mapping of the degradative event among compartments of the secretory pathway.

1990 • 111 citations

A vesicular intermediate in the transport of hepatoma secretory proteins from the rough endoplasmic reticulum to the Golgi complex.

1987 • 108 citations

Limited proteolysis by macrophage elastase inactivates human alpha 1-proteinase inhibitor.

1980 • 107 citations

Cleavage and inactivation of alpha 1-antitrypsin by metalloproteinases released from neutrophils.

1988 • 104 citations

Translational control of cytomegalovirus gene expression is mediated by upstream AUG codons

1988 • 104 citations

Alpha₁-Antitrypsin Deficiency and Emphysema Caused by Homozygous Inheritance of Non-Expressing Alpha₁-Antitrypsin Genes

1986 • 101 citations

α1-antitrypsin microheterogeneity

1982 • 100 citations

The cellular defect in alpha 1-proteinase inhibitor (alpha 1-PI) deficiency is expressed in human monocytes and in Xenopus oocytes injected with human liver mRNA.

1985 • 99 citations

Proteolytic inactivation of alpha-1-proteinase inhibitor by a neutrophil metalloproteinase.

1988 • 99 citations

Random fecal alpha-1-antitrypsin concentration in children with gastrointestinal disease

1981 • 98 citations

Cathepsin L inactivates alpha 1-proteinase inhibitor by cleavage in the reactive site region.

1986 • 96 citations

Danazol-induced Augmentation of Serum α1-Antitrypsin Levels in Individuals with Marked Deficiency of this Antiprotease

1980 • 95 citations

Regional location of α1-antichymotrypsin and α1-antitrypsin genes on human chromosome 14

1986 • 92 citations

Indications for pediatric liver transplantation

1987 • 91 citations

Assignment of the alpha 1-antitrypsin gene and a sequence-related gene to human chromosome 14 by molecular hybridization.

1983 • 91 citations

The α1-Antitrypsin Gene Is Expressed in a Human Intestinal Epithelial Cell Line

1989 • 91 citations

alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon.

1987 • 86 citations

Elastase regulates the synthesis of its inhibitor, alpha 1-proteinase inhibitor, and exaggerates the defect in homozygous PiZZ alpha 1 PI deficiency.

1988 • 85 citations

Serum α1-Antitrypsin Deficiency Associated with the Common S-type (Glu264 → Val) Mutation Results from Intracellular Degradation of α1- Antitrypsin Prior to Secretion

1989 • 85 citations

Development of an assay for in vivo human neutrophil elastase activity. Increased elastase activity in patients with alpha 1-proteinase inhibitor deficiency.

1986 • 83 citations

The Case of the Ruptured Aorta

1971 • 82 citations

Repair of the Secretion Defect in the Z Form of α1-Antitrypsin by Addition of a Second Mutation

1988 • 82 citations

In vivo catabolism of α1-proteinase inhibitor-trypsin, antithrombin III-thrombin and α2-macroglobulin-methylamine

1982 • 80 citations

Histopathologic study of the liver in the early cholestatic phase of alpha-1-antitrypsin deficiency

1976 • 80 citations

Alpha1-antitrypsin: further genetic heterogeneity revealed by isoelectric focusing.

1978 • 79 citations

α₁Antitrypsin Deficiency and Liver Cirrhosis in Adults

1987 • 77 citations

Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon.

1988 • 77 citations

Structural and functional characterization of the abnormal Z α₁‐antitrypsin isolated from human liver

1984 • 76 citations

Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin.

1989 • 73 citations

Characterization of the M1(Ala213) type of .alpha.1-antitrypsin, a newly recognized, common "normal" .alpha.1-antitrypsin haplotype

1987 • 73 citations

Alpha-2-Antiplasmin: a Serpin with Two Separate But Overlapping Reactive Sites

1988 • 69 citations

Alpha1 Antitrypsin Liver Disease Differential Diagnosis of PAS-Positive, Diastase-resistant Globules in Liver Cells

1983 • 68 citations

Does previous abdominal surgery alter the outcome of pediatric patients subjected to orthotopic liver transplantation?

1986 • 66 citations

Lipopolysaccharide modulates the expression of alpha 1 proteinase inhibitor and other serine proteinase inhibitors in human monocytes and macrophages.

1987 • 63 citations

Widespread expression of human alpha 1-antitrypsin in transgenic mice revealed by in situ hybridization.

1989 • 61 citations

Xenopus oocytes can synthesise but do not secrete the Z variant of human α₁‐antitrypsin

1984 • 61 citations

Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida.

1988 • 59 citations

In vivo catabolism of α1-antichymotrypsin is mediated by the Serpin receptor which binds α1-proteinase inhibitor, antithrombin III and heparin cofactor II

1988 • 59 citations

Biosynthesis, processing, and secretion of M and Z variant human alpha 1-antitrypsin.

1986 • 59 citations

Distribution of α<sub>1</sub>-Antitrypsin Variants in a US White Population

1984 • 58 citations

Disruption of the 290–342 salt bridge is not responsible for the secretory defect of the PiZ α1-antitrypsin variant

1989 • 55 citations

Fecal clearance of α1-antitrypsin: A reliable measure of enteric protein loss in children

1981 • 54 citations

Synthesis of stress proteins is increased in individuals with homozygous PiZZ alpha 1-antitrypsin deficiency and liver disease.

1989 • 53 citations

Hepatocyte ultrastructural changes in alpha1-antitrypsin deficiency.

1974 • 53 citations

Diffuse hepatocellular dysplasia and carcinoma associated with the Mmalton variant of α1-antitrypsin

1987 • 51 citations

Carboxy terminal fragment of human α-1-antitrypsin from hydroxylamine clevage: Homology with antithrombin III

1979 • 51 citations

Distinct and additive effects of elastase and endotoxin on expression of alpha 1 proteinase inhibitor in mononuclear phagocytes.

1988 • 49 citations

Improved identification of antitrypsin phenotypes through isoelectric focusing with dithioerythritol.

1979 • 48 citations

Comparison of the chemical, physical, and survival properties of normal and Z-variant alpha-1-antitrypsins.

1976 • 48 citations

Distribution and elimination of exogenous alpha1-antitrypsin.

1970 • 48 citations

The role of immunoglobulin heavy chain binding protein

1987 • 47 citations

Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele.

1990 • 47 citations

Alpha-1-antitrypsin bodies in the liver.

1977 • 46 citations

Hepatocyte Ultrastructural Changes in α1-Antitrypsin Deficiency

1974 • 44 citations

Aipha₁-antitrypsin, Protein Marker in Oral Contraceptive-associated Hepatic Tumors

1977 • 43 citations

Catabolic rate of α1-antitrypsin of Pi type M and Z in man

1977 • 42 citations

Metabolism of Intact and Desialylated α1-Antitrypsin

1978 • 42 citations

Changes in serum proteinase inhibitor levels following bone surgery

1974 • 41 citations

Regulation of alpha 1 proteinase inhibitor function by rabbit alveolar macrophages. Evidence for proteolytic rather than oxidative inactivation.

1985 • 40 citations

Molecular basis for defective secretion of the Z variant of human alpha-1-proteinase inhibitor: secretion of variants having altered potential for salt bridge formation between amino acids 290 and 342.

1989 • 39 citations

Tyrosine sulfation of proteins from the human hepatoma cell line HepG2.

1985 • 37 citations

Demonstration of alpha 1-antitrypsin in hepatomas.

1979 • 37 citations

Ultrastructural Liver Pathology in Patients with Minimal Liver Disease and α₁-Antitrypsin Deficiency: A Comparison Between Heterozygous and Homozygous Patients

1984 • 36 citations

Disruption of the Lys‐290‐Glu‐342 salt bridge in human α₁‐antitrypsin does not prevent its synthesis and secretion

1987 • 35 citations

α1-Antitrypsin Christchurch, 363 Glu → Lys: mutation at the P′5 position does not affect inhibitory activity

1986 • 35 citations

Activation of humanα 1-antitrypsin gene in rat hepatoma × human fetal liver cell hybrids depends on presence of human chromosome 14

1983 • 34 citations

Complete absence of serum alpha-1-antitrypsin in conjunction with an apparently normal gene structure.

1986 • 32 citations

Cloning and characterization of an α1-antitrypsin like gene 12 kb downstream of the genuine α1-antitrypsin gene

1988 • 32 citations

Fatal liver disease associated with α1-antitrypsin deficiency PiM1/PiMduarte

1987 • 31 citations

Characterization of a Peptide Released during the Reaction of Human β1–Antitrypsin and Bovine β-Chymotrypsin1

1979 • 28 citations

HLA phenotypes and gene polymorphisms in juvenile liver disease associated with α1-antitrypsin deficiency

1990 • 28 citations

Detection of alpha₁-antitrypsin genotypes by analysis of amplified DNA sequences

1988 • 28 citations

A physical map of the human PI and AACT genes

1990 • 27 citations

Pi Mheerlen, a Pi M allele resulting in very low a 1-antitrypsin serum levels

1981 • 25 citations

The human alpha‐1‐antitrypsin‐related sequence gene: isolation and investigation of its expression

1988 • 25 citations

Human Z α₁‐antitrypsin accumulates intracellularly and stimulates lysosomal activity when synthesised in the Xenopus oocyte

1985 • 25 citations

Human Interferon-β2

1987 • 24 citations

Rapid DNA analysis of alpha 1-antitrypsin deficiency: application of an improved method for amplifying mutated gene sequences.

1988 • 21 citations

Cytotoxicity to isolated rabbit hepatocytes by lymphocytes from children with liver disease

1977 • 20 citations

The amino acid substitutions of human α₁‐antitrypsin M₃, X and Z

1988 • 20 citations

Purification and biochemical characterization of hepatocyte nuclear factor 2 involved in liver-specific transcription of the human alpha 1-antitrypsin gene.

1990 • 17 citations

Lymphocyte cytotoxicity to autologous hepatocytes in alpha 1-antitrypsin deficiency.

1984 • 17 citations

Multiple systems organ failure : hepatic regulation of systemic host defense

1993 • 11 citations

Recovery of function in Chinese hamster ovary cell mutants with temperature-sensitive defects in vacuolar acidification.

1990 • 9 citations

The α1-antitrypsin gene and emphysema

1989 • 9 citations

Alpha-1-antitrypsin Plasma survival studies in the rat of the normal and homozygote deficient forms

1977 • 7 citations

ADA Deficiency: A Prime Candidate

1989 • 5 citations