Conformational and functional polymorphism of alpha1-antitrypsin: Role in health and diseases

Serine Proteases Mechanism, Structure and Evolution

Volumn , Issue , 2012, Pages 33-54

  Janciauskiene, Sabina ^a   Wrenger, Sabine ^a   Welte, Tobias ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

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EID: 84892018984     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter

References (147)

1. Gettins, PG. Serpin structure, mechanism, and function. Chem. Rev., 2002, 102(12), 4751-804.
2. Irving, JA; Pike, RN; Lesk, AM; Whisstock, JC. Phylogeny of the serpin superfamily: implications of patterns of amino acid conservation for structure and function. Genome Res., 2000, 10(12), 1845-64.
3. Fermi, C; Pernossi, L. Über die Enzyme. Vergleichende Studie. Z Hyg Infektionskr, 1894, 18(1), 83-127.
4. Hahn. Berl. Klin. Woch., 1897 34, 499.
5. Pugliese; Coggi. Bollet. Scienze Med., 1897 8, 383.
6. Schultze, HE; Goolner, I; Heide, K; Schonenberger, M; Schwick, G. Zur Kenntnis der Alpha-Globuline des menschlichen Normalserums. Z Naturforsch, 1955, 10, 463-472.
7. Laurell, CB. "Axplock" från min tid som klinisk kemist Lund 1944-53 * Malmö 1954-83. Malmö: Sjukvården Malmö; 1992.
8. Laurell, CB. Bench Side Medicine (citations received from the personal communication with C-B Laurell son, Dr Martin Laurell). Clin. Chem., 2001 47, 613-614.
9. Laurell, CB; Eriksson, S. The electrophoretic alpha1-globulin pattern of serum in alpha1-antitrypsin deficiency. Scand. J. Clin. Lab. Invest., 1963, 15, 132-140.
10. Gross, PM; Bubyak, E; Tolken, E; Kashak, M. Enzymatically produced pulmonary emphysema. A preliminary report. J. Occup. Med., 1964, 6, 481-484.
11. Eriksson, S. A 30-year perspective on alpha 1-antitrypsin deficiency. Chest, 1996 110, 237S-242S.
12. Sharp, HL; Bridges, RA; Krivit, W; Freier, EF. Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder. J. Lab. Clin. Med., 1969, 73(6), 934-9.
13. Fairbanks, KD; Tavill, AS. Liver disease in alpha 1-antitrypsin deficiency: a review. Am. J. Gastroenterol, 2008 103(8), 2136-41; quiz 2142.
14. Bao, JJ; Sifers, RN; Kidd, VJ; Ledley, FD; Woo, SL. Molecular evolution of serpins: homologous structure of the human alpha 1-antichymotrypsin and alpha 1-antitrypsin genes. Biochemistry, 1987, 26(24), 7755-9.
15. Cox, DW; Woo, SL; Mansfield, T. DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z. Nature, 1985, 316(6023), 79-81.
16. Nukiwa, T; Ogushi, F; Crystal, RG, Alpha1-antitrypsin gene evolution, In: Editor Editors. Alpha1-antitrypsin deficiency. New York: Marcel Dekker; 1996;
17. de Serres, FJ. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest, 2002, 122(5), 1818-29.
18. Luisetti, M, The Italian Registry for AATD. Epidemiology of rare AATD variants., in 4th International Scientific Conference: Epidemiological Aspects of Alpha-1-Antitrypsin Deficiency, Foundation, A, Editor 2002: Charleston SC.
19. Carrell, RW; Jeppsson, JO; Vaughan, L; Brennan, SO; Owen, MC; Boswell, DR. Human alpha 1-antitrypsin: carbohydrate attachment and sequence homology. FEBS Lett, 1981, 135(2), 301-3.
20. Luisetti, M; Seersholm, N. Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency. Thorax,2004 59(2),164-9.
21. Seyama, K; Nukiwa, T; Takabe, K; Takahashi, H; Miyake, K; Kira, S. Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC). A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone. J. Biol. Chem., 1991, 266(19), 12627-32.
22. Seixas, S; Garcia, O; Trovoada, MJ; Santos, MT; Amorim, A; Rocha, J. Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphism. Hum. Genet., 2001, 108(1), 20-30.
23. Bosco, D; Meda, P; Morel, P; Matthey-Doret, D; Caille, D; Toso, C; Buhler, LH; Berney, T. Expression and secretion of alpha1-proteinase inhibitor are regulated by proinflammatory cytokines in human pancreatic islet cells. Diabetologia, 2005, 48(8), 1523-33.
24. Boskovic, G; Twining, SS. Retinol and retinaldehyde specifically increase alpha1-proteinase inhibitor in the human cornea. Biochem. J., 1997 322 (Pt 3), 751-6.
25. Faust, D; Hormann, S; Friedrich-Sander, M; Milovic, V; Stein, J. Butyrate and the cytokine-induced alpha1-proteinase inhibitor release in intestinal epithelial cells. Eur. J. Clin. Invest., 2001, 31(12), 1060-3.
26. Knoell, DL; Ralston, DR; Coulter, KR; Wewers, MD. Alpha 1-antitrypsin and protease complexation is induced by lipopolysaccharide, interleukin-1beta, and tumor necrosis factor-alpha in monocytes. Am. J. Respir. Crit. Care Med., 1998, 157(1), 246-55.
27. Perlmutter, DH; Punsal, PI. Distinct and additive effects of elastase and endotoxin on expression of alpha 1 proteinase inhibitor in mononuclear phagocytes. J. Biol. Chem., 1988, 263(31), 16499-503.
28. Janciauskiene, SM; Bals, R; Koczulla, R; Vogelmeier, C; Kohnlein, T; Welte, T. The discovery of alpha1-antitrypsin and its role in health and disease. Respir. Med., 2011, 105(8), 1129-39.
29. Janciauskiene, S. Conformational properties of serine proteinase inhibitors (serpins) confer multiple pathophysiological roles. Biochim. Biophys. Acta., 2001, 1535(3), 221-35.
30. Boskovic, G; Twining, SS. Local control of alpha1-proteinase inhibitor levels: regulation of alpha1-proteinase inhibitor in the human cornea by growth factors and cytokines. Biochim. Biophys. Acta., 1998, 1403(1), 37-46.
31. Perlmutter, DH; Travis, J; Punsal, PI. Elastase regulates the synthesis of its inhibitor, alpha 1-proteinase inhibitor, and exaggerates the defect in homozygous PiZZ alpha 1 PI deficiency. J. Clin. Invest., 1988, 81(6), 1774-80.
32. Luo, LY; Jiang, W. Inhibition profiles of human tissue kallikreins by serine protease inhibitors. Biol. Chem., 2006, 387(6), 813-6.
33. Schapira, M; Scott, CF; Colman, RW. Contribution of plasma protease inhibitors to the inactivation of kallikrein in plasma. J. Clin. Invest., 1982, 69(2), 462-8.
34. Janciauskiene, S; Nita, I; Subramaniyam, D; Li, Q; Lancaster, JR, Jr.; Matalon, S. Alpha1-antitrypsin inhibits the activity of the matriptase catalytic domain in vitro. Am. J. Respir. Cell Mol. Biol., 2008, 39(6), 631-7.
35. Tseng, IC; Chou, FP; Su, SF; Oberst, M; Madayiputhiya, N; Lee, MS; Wang, JK; Sloane, DE; Johnson, M; Lin, CY. Purification from human milk of matriptase complexes with secreted serpins: mechanism for inhibition of matriptase other than HAI-1. Am. J. Physiol. Cell Physiol., 2008 295(2), C423-31.
36. Petrache, I; Fijalkowska, I; Medler, TR; Skirball, J; Cruz, P; Zhen, L; Petrache, HI; Flotte, TR; Tuder, RM. alpha-1 antitrypsin inhibits caspase-3 activity, preventing lung endothelial cell apoptosis. Am. J. Pathol., 2006, 169(4), 1155-66.
37. Toldo, S; Seropian, IM; Mezzaroma, E; Van Tassell, BW; Salloum, FN; Lewis, EC; Voelkel, N; Dinarello, CA; Abbate, A. Alpha-1 antitrypsin inhibits caspase-1 and protects from acute myocardial ischemia-reperfusion injury. J. Mol. Cell Cardiol., 2011, 51(2), 244-51.
38. Bergin, DA; Reeves, EP; Meleady, P; Henry, M; McElvaney, OJ; Carroll, TP; Condron, C; Chotirmall, SH; Clynes, M; O'Neill, SJ; McElvaney, NG. alpha-1 Antitrypsin regulates human neutrophil chemotaxis induced by soluble immune complexes and IL-8. J. Clin. Invest., 2010, 120(12), 4236-50.
39. Al-Omari, M; Korenbaum, E; Ballmaier, M; Lehmann, U; Jonigk, D; Manstein, DJ; Welte, T; Mahadeva, R; Janciauskiene, S. The acute phase protein, alpha1-antitrypsin, inhibits neutrophil calpain I and induces random migration. Mol. Med., 2011.
40. Subramaniyam, D; Zhou, H; Liang, M; Welte, T; Mahadeva, R; Janciauskiene, S. Cholesterol rich lipid raft microdomains are gateway for acute phase protein, SERPINA1. Int. J. Biochem. Cell Biol., 2010, 42(9), 1562-70.
41. Johnson, DA; Barrett, AJ; Mason, RW. Cathepsin L inactivates alpha 1-proteinase inhibitor by cleavage in the reactive site region. J. Biol. Chem., 1986, 261(31), 14748-51.
42. Winyard, PG; Zhang, Z; Chidwick, K; Blake, DR; Carrell, RW; Murphy, G. Proteolytic inactivation of human alpha 1 antitrypsin by human stromelysin. FEBS Lett., 1991, 279(1), 91-4.
43. Michaelis, J; Vissers, MC; Winterbourn, CC. Cleavage of alpha 1-antitrypsin by human neutrophil collagenase. Matrix Suppl.,1992 1,80-1.
44. Liu, Z; Zhou, X; Shapiro, SD; Shipley, JM; Twining, SS; Diaz, LA; Senior, RM; Werb, Z. The serpin alpha1-proteinase inhibitor is a critical substrate for gelatinase B/MMP-9 in vivo. Cell, 2000, 102(5), 647-55.
45. Bucurenci, N; Blake, DR; Chidwick, K; Winyard, PG. Inhibition of neutrophil superoxide production by human plasma alpha 1-antitrypsin. FEBS Lett., 1992, 300(1), 21-4.
46. She, QB; Mukherjee, JJ; Crilly, KS; Kiss, Z. alpha(1)-antitrypsin can increase insulin-induced mitogenesis in various fibroblast and epithelial cell lines. FEBS Lett., 2000, 473(1), 33-6.
47. Tilg, H; Vannier, E; Vachino, G; Dinarello, CA; Mier, JW. Antiinflammatory properties of hepatic acute phase proteins: preferential induction of interleukin 1 (IL-1) receptor antagonist over IL-1 beta synthesis by human peripheral blood mononuclear cells. J. Exp. Med., 1993, 178(5), 1629-36.
48. Graziadei, I; Weiss, G; Bohm, A; Werner-Felmayer, G; Vogel, W. Unidirectional upregulation of the synthesis of the major iron proteins, transferrin-receptor and ferritin, in HepG2 cells by the acute-phase protein alpha1-antitrypsin. .J Hepatol., 1997, 27(4), 716-25.
49. Maes, OC; Kravitz, S; Mawal, Y; Su, H; Liberman, A; Mehindate, K; Berlin, D; Sahlas, DJ; Chertkow, HM; Bergman, H; Melmed, C; Schipper, HM. Characterization of alpha1-antitrypsin as a heme oxygenase-1 suppressor in Alzheimer plasma. Neurobiol. Dis., 2006, 24(1), 89-100.
50. Knappstein, S; Ide, T; Schmidt, MA; Heusipp, G. Alpha 1-antitrypsin binds to and interferes with functionality of EspB from atypical and typical enteropathogenic Escherichia coli strains. Infect. Immun., 2004, 72(8), 4344-50.
51. Forney, JR; Yang, S; Du, C; Healey, MC. Efficacy of serine protease inhibitors against Cryptosporidium parvum infection in a bovine fallopian tube epithelial cell culture system. J. Parasitol., 1996, 82(4), 638-40.
52. Janciauskiene, SM; Nita, IM; Stevens, T. Alpha1-antitrypsin, old dog, new tricks. Alpha1-antitrypsin exerts in vitro anti-inflammatory activity in human monocytes by elevating cAMP. J. Biol. Chem., 2007, 282(12), 8573-82.
53. Subramaniyam, D; Virtala, R; Pawlowski, K; Clausen, IG; Warkentin, S; Stevens, T; Janciauskiene, S. TNF-alpha-induced self expression in human lung endothelial cells is inhibited by native and oxidized alpha1-antitrypsin. Int. J. Biochem. Cell Biol., 2008, 40(2), 258-71.
54. Lewis, EC; Mizrahi, M; Toledano, M; Defelice, N; Wright, JL; Churg, A; Shapiro, L; Dinarello, CA. alpha1-Antitrypsin monotherapy induces immune tolerance during islet allograft transplantation in mice. Proc. Natl. Acad. Sci. USA, 2008, 105(42), 16236-41.
55. Kalis, M; Kumar, R; Janciauskiene, S; Salehi, A; Cilio, CM. alpha 1-antitrypsin enhances insulin secretion and prevents cytokine-mediated apoptosis in pancreatic beta-cells. Islets, 2010, 2(3), 185-9.
56. Kumar, R; Balhuizen, A; Soni, A; Amisten, S; Salehi, A. Potential link between alpha 1 anti-trypsin and PAR-2 in the prevention of beta cell dysfunction. Mol. Cell Endocrinol., 2011.
57. Koulmanda, M; Bhasin, M; Hoffman, L; Fan, Z; Qipo, A; Shi, H; Bonner-Weir, S; Putheti, P; Degauque, N; Libermann, TA; Auchincloss, H, Jr.; Flier, JS; Strom, TB. Curative and beta cell regenerative effects of alpha1-antitrypsin treatment in autoimmune diabetic NOD mice. Proc. Natl. Acad. Sci. USA, 2008, 105(42), 16242-7.
58. Jie, Z; Cai, Y; Yang, W; Jin, M; Zhu, W; Zhu, C. Protective effects of alpha 1-antitrypsin on acute lung injury in rabbits induced by endotoxin. Chin. Med. J. (Engl), 2003, 116(11), 1678-82.
59. Libert, C; Van Molle, W; Brouckaert, P; Fiers, W. alpha1-Antitrypsin inhibits the lethal response to TNF in mice. J. Immunol., 1996, 157(11), 5126-9.
60. Subramaniyam, D; Steele, C; Kohnlein, T; Welte, T; Grip, O; Matalon, S; Janciauskiene, S. Effects of alpha 1-antitrypsin on endotoxin-induced lung inflammation in vivo. Inflamm. Res., 2010, 59(7), 571-8.
61. Churg, A; Dai, J; Zay, K; Karsan, A; Hendricks, R; Yee, C; Martin, R; MacKenzie, R; Xie, C; Zhang, L; Shapiro, S; Wright, JL. Alpha-1-antitrypsin and a broad spectrum metalloprotease inhibitor, RS113456, have similar acute anti-inflammatory effects. Lab. Invest., 2001, 81(8), 1119-31.
62. Lewis, EC; Shapiro, L; Bowers, OJ; Dinarello, CA. Alpha1-antitrypsin monotherapy prolongs islet allograft survival in mice. Proc. Natl. Acad. Sci. USA, 2005, 102(34), 12153-8.
63. Marcondes, AM; Li, X; Tabellini, L; Bartenstein, M; Kabacka, J; Sale, GE; Hansen, JA; Dinarello, CA; Deeg, HJ. Inhibition of IL-32 activation by {alpha}-1 antitrypsin suppresses alloreactivity and increases survival in an allogeneic murine marrow transplantation model. Blood, 2011.
64. Elliott, PR; Lomas, DA; Carrell, RW; Abrahams, JP. Inhibitory conformation of the reactive loop of alpha 1-antitrypsin. Nat. Struct. Biol., 1996, 3(8), 676-81.
65. Hrycaj, P; Nayyar, S; Stanworth, DR; Muller, W. Microheterogeneity of alpha 1-antitrypsin in relation to the concentration of its complex with immunoglobulin A in the sera of patients with rheumatoid arthritis. Clin. Exp. Rheumatol., 1996, 14(2), 119-23.
66. Stibler, H; Holzbach, U; Kristiansson, B. Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I. Scand. J. Clin. Lab. Invest., 1998, 58(1), 55-61.
67. Mills, K; Mills, PB; Clayton, PT; Johnson, AW; Whitehouse, DB; Winchester, BG. Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology. Clin. Chem., 2001, 47(11), 2012-22.
68. Wang, M; Long, RE; Comunale, MA; Junaidi, O; Marrero, J; Di Bisceglie, AM; Block, TM; Mehta, AS. Novel fucosylated biomarkers for the early detection of hepatocellular carcinoma. Cancer Epidemiol Biomarkers Prev., 2009, 18(6), 1914-21.
69. Sarrats, A; Saldova, R; Pla, E; Fort, E; Harvey, DJ; Struwe, WB; de Llorens, R; Rudd, PM; Peracaula, R. Glycosylation of liver acute-phase proteins in pancreatic cancer and chronic pancreatitis. Proteomics Clin. Appl., 2010, 4(4), 432-48.
70. Rapala-Kozik, M; Potempa, J; Nelson, D; Kozik, A; Travis, J. Comparative cleavage sites within the reactive-site loop of native and oxidized alpha1-proteinase inhibitor by selected bacterial proteinases. Biol. Chem., 1999, 380(10), 1211-6.
71. Jordon, RE; Kawana, S; Fritz, KA. Immunopathologic mechanisms in pemphigus and bullous pemphigoid. J. Invest. Dermatol., 1985 85(1 Suppl), 72s-78s.
72. Zhou, J; Trock, B; Tsangaris, TN; Friedman, NB; Shapiro, D; Brotzman, M; Chan-Li, Y; Chan, DW; Li, J. A unique proteolytic fragment of alpha1-antitrypsin is elevated in ductal fluid of breast cancer patient. Breast Cancer Res. Treat., 2010, 123(1), 73-86.
73. Münch, J; Standker, L; Adermann, K; Schulz, A; Schindler, M; Chinnadurai, R; Pohlmann, S; Chaipan, C; Biet, T; Peters, T; Meyer, B; Wilhelm, D; Lu, H; Jing, W; Jiang, S; Forssmann, WG; Kirchhoff, F. Discovery and optimization of a natural HIV-1 entry inhibitor targeting the gp41 fusion peptide. Cell, 2007, 129(2), 263-75.
74. Forssmann, WG; The, YH; Stoll, M; Adermann, K; Albrecht, U; Barlos, K; Busmann, A; Canales-Mayordomo, A; Gimenez-Gallego, G; Hirsch, J; Jimenez-Barbero, J; Meyer-Olson, D; Munch, J; Perez-Castells, J; Standker, L; Kirchhoff, F; Schmidt, RE. Short-term monotherapy in HIV-infected patients with a virus entry inhibitor against the gp41 fusion peptide. Sci. Transl. Med., 2010 2(63), 63re3.
75. Gerbod-Giannone, MC; Del Castillo-Olivares, A; Janciauskiene, S; Gil, G; Hylemon, PB. Suppression of cholesterol 7alpha-hydroxylase transcription and bile acid synthesis by an alpha1-antitrypsin peptide via interaction with alpha1-fetoprotein transcription factor. J. Biol. Chem., 2002, 277(45), 42973-80.
76. Shapira, E; Proscura, E; Brodsky, B; Wormser, U. Novel peptides as potential treatment of systemic lupus erythematosus. Lupus, 2011, 20(5), 463-72.
77. Valko, M; Leibfritz, D; Moncol, J; Cronin, MT; Mazur, M; Telser, J. Free radicals and antioxidants in normal physiological functions and human disease. Int. J. Biochem. Cell Biol., 2007, 39(1), 44-84.
78. Choi, J; Malakowsky, CA; Talent, JM; Conrad, CC; Gracy, RW. Identification of oxidized plasma proteins in Alzheimer's disease. Biochem. Biophys. Res. Commun., 2002, 293(5), 1566-70.
79. Wong, PS; Travis, J. Isolation and properties of oxidized alpha-1-proteinase inhibitor from human rheumatoid synovial fluid. Biochem. Biophys. Res. Commun., 1980, 96(3), 1449-54.
80. Carp, H; Miller, F; Hoidal, JR; Janoff, A. Potential mechanism of emphysema: alpha 1-proteinase inhibitor recovered from lungs of cigarette smokers contains oxidized methionine and has decreased elastase inhibitory capacity. Proc. Natl. Acad. Sci. USA, 1982, 79(6), 2041-5.
81. Taggart, C; Cervantes-Laurean, D; Kim, G; McElvaney, NG; Wehr, N; Moss, J; Levine, RL. Oxidation of either methionine 351 or methionine 358 in alpha 1-antitrypsin causes loss of anti-neutrophil elastase activity. J. Biol. Chem., 2000, 275(35), 27258-65.
82. Ossanna, PJ; Test, ST; Matheson, NR; Regiani, S; Weiss, SJ. Oxidative regulation of neutrophil elastase-alpha-1-proteinase inhibitor interactions. J. Clin. Invest., 1986, 77(6), 1939-51.
83. Scott, LJ; Russell, GI; Nixon, NB; Dawes, PT; Mattey, DL. Oxidation of alpha1-proteinase inhibitor by the myeloperoxidase-hydrogen peroxidase system promotes binding to immunoglobulin A. Biochem. Biophys. Res. Commun., 1999, 255(3), 562-7.
84. McGuire, WW; Spragg, RG; Cohen, AB; Cochrane, CG. Studies on the pathogenesis of the adult respiratory distress syndrome. J. Clin. Invest., 1982, 69(3), 543-53.
85. Roum, JH; Buhl, R; McElvaney, NG; Borok, Z; Crystal, RG. Systemic deficiency of glutathione in cystic fibrosis. J. Appl. Physiol., 1993, 75(6), 2419-24.
86. Izumi-Yoneda, N; Toda, A; Okabe, M; Koike, C; Takashima, S; Yoshida, T; Konishi, I; Saito, S; Nikaido, T. Alpha 1 antitrypsin activity is decreased in human amnion in premature rupture of the fetal membranes. Mol. Hum. Reprod., 2009, 15(1), 49-57.
87. Li, Z; Alam, S; Wang, J; Sandstrom, CS; Janciauskiene, S; Mahadeva, R. Oxidized {alpha}1-antitrypsin stimulates the release of monocyte chemotactic protein-1 from lung epithelial cells: potential role in emphysema. Am. J. Physiol. Lung Cell Mol. Physiol., 2009 297(2), L388-400.
88. Moraga, F; Janciauskiene, S. Activation of primary human monocytes by the oxidized form of alpha1-antitrypsin. J. Biol. Chem., 2000, 275(11), 7693-700.
89. Retamales, I; Elliott, WM; Meshi, B; Coxson, HO; Pare, PD; Sciurba, FC; Rogers, RM; Hayashi, S; Hogg, JC. Amplification of inflammation in emphysema and its association with latent adenoviral infection. Am. J. Respir. Crit. Care Med., 2001, 164(3), 469-73.
90. Donners, MM; Verluyten, MJ; Bouwman, FG; Mariman, EC; Devreese, B; Vanrobaeys, F; van Beeumen, J; van den Akker, LH; Daemen, MJ; Heeneman, S. Proteomic analysis of differential protein expression in human atherosclerotic plaque progression. J. Pathol., 2005, 206(1), 39-45.
91. Miyamoto, Y; Akaike, T; Maeda, H. S-nitrosylated human alpha(1)-protease inhibitor. Biochim. Biophys. Acta., 2000 1477(1-2), 90-7.
92. Ikebe, N; Akaike, T; Miyamoto, Y; Hayashida, K; Yoshitake, J; Ogawa, M; Maeda, H. Protective effect of S-nitrosylated alpha(1)-protease inhibitor on hepatic ischemia-reperfusion injury. J. Pharmacol. Exp. Ther., 2000, 295(3), 904-11.
93. Laurell, CB; Thulin, E. Complexes in plasma between light chain kappa immunoglobulins and alpha 1-antitrypsin respectively prealbumin. Immunochemistry, 1974, 11(11), 703-9.
94. Austin, GE; Mullins, RH; Morin, LG. Non-enzymic glycation of individual plasma proteins in normoglycemic and hyperglycemic patients. Clin. Chem., 1987, 33(12), 2220-4.
95. Scott, LJ; Evans, EL; Dawes, PT; Russell, GI; Mattey, DL. Comparison of IgA-alpha1-antitrypsin levels in rheumatoid arthritis and seronegative oligoarthritis: complex formation is not associated with inflammation per se. Br. J. Rheumatol., 1998, 37(4), 398-404.
96. Finotti, P; Pagetta, A. A heat shock protein70 fusion protein with alpha1-antitrypsin in plasma of type 1 diabetic subjects. Biochem. Biophys. Res. Commun., 2004, 315(2), 297-305.
97. Zhang, WM; Finne, P; Leinonen, J; Stenman, UH. Characterization and determination of the complex between prostate-specific antigen and alpha 1-protease inhibitor in benign and malignant prostatic diseases. Scand. J. Clin. Lab. Invest. Suppl., 2000, 233, 51-8.
98. Kotani, K; Yamada, T; Taniguchi, N. The association between adiponectin, HDL-cholesterol and alpha1-antitrypsin-LDL in female subjects without metabolic syndrome. Lipids Health Dis., 2010 9, 147.
99. Carrell, RW; Jeppsson, JO; Laurell, CB; Brennan, SO; Owen, MC; Vaughan, L; Boswell, DR. Structure and variation of human alpha 1-antitrypsin. Nature, 1982, 298(5872), 329-34.
100. Carrell, RW; Lomas, DA; Sidhar, S; Foreman, R. Alpha 1-antitrypsin deficiency. A conformational disease. Chest, 1996 110(6 Suppl), 243S-247S.
101. Knaupp, AS; Bottomley, SP. Structural Change in beta-Sheet A of Z alpha(1)-Antitrypsin Is Responsible for Accelerated Polymerization and Disease. J. Mol. Biol., 2011.
102. Eriksson, S. Discovery of alpha 1-antitrypsin deficiency. Lung, 1990 168 Suppl, 523-9.
103. Mahadeva, R; Atkinson, C; Li, Z; Stewart, S; Janciauskiene, S; Kelley, DG; Parmar, J; Pitman, R; Shapiro, SD; Lomas, DA. Polymers of Z alpha1-antitrypsin co-localize with neutrophils in emphysematous alveoli and are chemotactic in vivo. Am. J. Pathol., 2005, 166(2), 377-86.
104. Mulgrew, AT; Taggart, CC; Lawless, MW; Greene, CM; Brantly, ML; O'Neill, SJ;McElvaney, NG. Z alpha1-antitrypsin polymerizes in the lung and acts as a neutrophil chemoattractant. Chest, 2004 125(5), 1952-7.
105. Stoller, JK; Aboussouan, LS. Alpha1-antitrypsin deficiency. Lancet, 2005, 365(9478), 2225-36.
106. Barnes, PJ. New concepts in chronic obstructive pulmonary disease. Annu. Rev. Med., 2003, 54, 113-29.
107. Alam, S; Li, Z; Janciauskiene, S; Mahadeva, R. Oxidation of Z alpha1-antitrypsin by cigarette smoke induces polymerization: a novel mechanism of early-onset emphysema. Am. J. Respir. Cell Mol. Biol., 2011, 45(2), 261-9.
108. Lyon, MJ. Metabolic panniculitis: alpha-1 antitrypsin deficiency panniculitis and pancreatic panniculitis. Dermatol. Ther., 2010, 23(4), 368-74.
109. Valverde, R; Rosales, B; Ortiz-de Frutos, FJ; Rodriguez-Peralto, JL; Ortiz-Romero, PL. Alpha-1-antitrypsin deficiency panniculitis. Dermatol. Clin., 2008 26(4), 447-51, vi.
110. Esnault, VL; Audrain, MA; Sesboue, R. Alpha-1-antitrypsin phenotyping in ANCA-associated diseases: one of several arguments for protease/antiprotease imbalance in systemic vasculitis. Exp. Clin. Immunogenet., 1997, 14(3), 206-13.
111. Ranes, J; Stoller, JK. A review of alpha-1 antitrypsin deficiency. Semin. Respir. Crit. Care Med., 2005, 26(2), 154-66.
112. Breit, SN; Wakefield, D; Robinson, JP; Luckhurst, E; Clark, P; Penny, R. The role of alpha 1-antitrypsin deficiency in the pathogenesis of immune disorders. Clin. Immunol. Immunopathol., 1985, 35(3), 363-80.
113. Teh, LG; Steven, MM; Capell, HA. Alpha-1-antitrypsin associated liver disease in rheumatoid arthritis. Postgrad. Med. J., 1985, 61(712), 171-2.
114. Kilty, SJ; Desrosiers, MY. Chronic sinusitis and alpha1-antitrypsin deficiency: potential role for protease in rhinosinusitis? J. Otolaryngol. Head Neck Surg., 2008 37(6), E179-82.
115. Maune, S; Rath, NF; Gorogh, T; Steinert, R. [Genetic disposition to chronic polypoid sinusitis and alpha 1-proteinase inhibitor deficiency types]. HNO, 1995, 43(9), 537-9.
116. Fearnley, IR; Spalton, DJ; Ward, AM; Slavin, B; Muncey, F. Alpha 1-antitrypsin phenotypes in acute anterior uveitis. Br. J. Ophthalmol., 1988, 72(8), 636-9.
117. Needham, M; Stockley, RA. Alpha 1-antitrypsin deficiency. 3: Clinical manifestations and natural history. Thorax, 2004, 59(5), 441-5.
118. Rabassa, AA; Schwartz, MR; Ertan, A. Alpha 1-antitrypsin deficiency and chronic pancreatitis. Dig. Dis. Sci., 1995, 40(9), 1997-2001.
119. Witt, H; Kage, A; Luck, W; Becker, M. Alpha1-antitrypsin genotypes in patients with chronic pancreatitis. Scand. J. Gastroenterol., 2002, 37(3), 356-9.
120. Folwaczny, C; Urban, S; Schroder, M; Hofmann, B; Noehl, N; Konig, A; Loeschke, K; Fricke, H. Alpha1-antitrypsin alleles and phenotypes in patients with inflammatory bowel disease. Scand. J. Gastroenterol., 1998, 33(1), 78-81.
121. Gambichler, T; Reich, S; Banasch, M; Altmeyer, P. Complex extra-intestinal complications of ulcerative colitis in a patient with alpha1-antitrypsin deficiency. Eur. J .Med. Res., 2006, 11(3), 135-8.
122. Klasen, EC; Polanco, I; Biemond, I; Vazquez, C; Pena, AS. alpha 1-Antitrypsin and coeliac disease in spain. Gut, 1980, 21(11), 948-50.
123. Pons Romero, F; Casafont, F; Rodriguez de Lope, C; San Miguel, G; Artinano, E; Cagigas, J. Could alpha 1 antitrypsin deficiency have any role in the development of celiac sprue after gastric operations? J. Clin. Gastroenterol., 1986, 8(5), 559-61.
124. Andre, F; Andre, C; Lambert, R; Descos, F. Prevalence of alpha1-antitrypsin deficiency in patients with gastric or duodenal ulcer. Biomedicine, 1974, 21(5), 222-4.
125. Elzouki, AN; Toth, E; Floren, CH; Lindgren, S; Fork, FT; Sjolund, K; Walder, M; Eriksson, S. Alpha1-antitrypsin deficiency may be a risk factor for duodenal ulcer in patients with Helicobacter pylori infection. Scand. J. Gastroenterol., 2000, 35(1), 32-5.
126. Shapiro, L; Pott, GB; Ralston, AH. Alpha-1-antitrypsin inhibits human immunodeficiency virus type 1. FASEB J., 2001, 15(1), 115-122.
127. Lisowska-Myjak, B; Pachecka, J; Kaczynska, B; Miszkurka, G; Kadziela, K. Serum protease inhibitor concentrations and total antitrypsin activity in diabetic and non-diabetic children during adolescence. Acta. Diabetol., 2006, 43(4), 88-92.
128. Sandstrom, CS; Ohlsson, B; Melander, O; Westin, U; Mahadeva, R; Janciauskiene, S. An association between Type 2 diabetes and alpha-antitrypsin deficiency. Diabet. Med., 2008, 25(11), 1370-3.
129. Callea, F; Fevery, J; Desmet, VJ. Simultaneous alpha-1-antitrypsin accumulation in liver and pancreas. Hum. Pathol., 1984, 15(3), 293-5.
130. Dieriks, B; Hoorens, A; Vanden Houte, K; Verbeelen, D. Alpha-1-antitrypsin deficiency and mesangio-capillary glomerulonephritis in an elderly patient. Nephrol. Dial. Transplant., 2006 21(7), 2027.
131. Szonyi, L; Dobos, M; Vasarhelyi, B; Heninger, E; Vas, T; Nagy, J; Kovacs, T. Prevalence of alpha1-antitrypsin phenotypes in patients with IgA nephropathy. Clin. Nephrol., 2004, 62(6), 418-22.
132. Ting, SM; Toth, T; Caskey, F. alpha1-antitrypsin (A1AT) deficiency presenting with IgA nephropathy and nephrotic syndrome: is renal involvement caused by A1AT deposition? Clin. Nephrol., 2008, 70(2), 159-62.
133. Ablin, JN; Bar-Shira, A; Yaron, M; Orr-Urtreger, A. Candidate-gene approach in fibromyalgia syndrome: association analysis of the genes encoding substance P receptor, dopamine transporter and alpha1-antitrypsin. Clin. Exp. Rheumatol., 2009 27(5 Suppl 56), S33-8.
134. Blanco, I; Beritze, N; Arguelles, M; Carcaba, V; Fernandez, F; Janciauskiene, S; Oikonomopoulou, K; de Serres, FJ; Fernandez-Bustillo, E; Hollenberg, MD. Abnormal overexpression of mastocytes in skin biopsies of fibromyalgia patients. Clin. Rheumatol., 2010, 29(12), 1403-12.
135. Schelfout, K; Tjalma, WA; Cooremans, ID; Coeman, DC; Colpaert, CG; Buytaert, PM. Observations of an idiopathic granulomatous mastitis. Eur J. Obstet. Gynecol. Reprod. Biol., 2001, 97(2), 260-2.
136. Frederick, WG; Enriquez, R; Bookbinder, MJ. Peripheral neuropathy associated with alpha 1-antitrypsin deficiency. Arch. Neurol., 1990, 47(2), 233-5.
137. Elzouki, AN; Eriksson, S. Severe alpha 1-antitrypsin deficiency and intracranial aneurysms. Lancet, 1994 343(8904), 1037.
138. Elzouki, AN; Ryden Ahlgren, A; Lanne, T; Sonesson, B; Eriksson, S. Is there a relationship between abdominal aortic aneurysms and alpha1-antitrypsin deficiency (PiZ)? Eur. J. Vasc. Endovasc. Surg., 1999, 17(2), 149-54.
139. Gaglio, PJ; Regenstein, F; Slakey, D; Cheng, S; Takiff, H; Rinker, R; Dick, D; Thung, SN. Alpha-1 antitrypsin deficiency and splenic artery aneurysm rupture: an association? Am. J. Gastroenterol., 2000, 95(6), 1531-4.
140. Pezzini, A; Magoni, M; Corda, L; Pini, L; Medicina, D; Crispino, M; Pavia, M; Padovani, A; Grassi, V. Alpha-1-antitrypsin deficiency-associated cervical artery dissection: report of three cases. Eur. Neurol., 2002, 47(4), 201-4.
141. Schardey, HM; Hernandez-Richter, T; Klueppelberg, U; Tutsch-Bauer, E; Lauterjung, L. Alleles of the alpha-1-antitrypsin phenotype in patients with aortic aneurysms. J. Cardiovasc. Surg. (Torino), 1998, 39(5), 535-9.
142. Talmud, PJ; Martin, S; Steiner, G; Flavell, DM; Whitehouse, DB; Nagl, S; Jackson, R; Taskinen, MR; Frick, MH; Nieminen, MS; Kesaniemi, YA; Pasternack, A; Humphries, SE; Syvanne, M; Diabetes Atherosclerosis Intervention Study, I. Progression of atherosclerosis is associated with variation in the alpha1-antitrypsin gene. Arterioscler Thromb Vasc. Biol., 2003, 23(4), 644-9.
143. Li, Y; Krowka, MJ; Qi, Y; Katzmann, JA; Song, Y; Mandrekar, SJ; Yang, P. Alpha1-antitrypsin deficiency carriers, serum alpha 1-antitrypsin concentration, and non-small cell lung cancer survival. J. Thorac. Oncol., 2011, 6(2), 291-5.
144. Topic, A; Ljujic, M; Nikolic, A; Petrovic-Stanojevic, N; Dopudja-Pantic, V; Mitic-Milikic, M; Radojkovic, D. Alpha-1-antitrypsin phenotypes and neutrophil elastase gene promoter polymorphisms in lung cancer. Pathol. Oncol. Res., 2011, 17(1), 75-80.
145. Yang, P; Sun, Z; Krowka, MJ; Aubry, MC; Bamlet, WR; Wampfler, JA; Thibodeau, SN; Katzmann, JA; Allen, MS; Midthun, DE; Marks, RS; de Andrade, M. Alpha1-antitrypsin deficiency carriers, tobacco smoke, chronic obstructive pulmonary disease, and lung cancer risk. Arch. Intern. Med., 2008, 168(10), 1097-103.
146. Lindor, NM; Yang, P; Evans, I; Schowalter, K; De Andrade, M; Li, J; Jeavons, E; Peterson, G; Gallinger, S; Bapat, B; Hopper, J; Jass, J; Jenkins, M; Templeton, A; Potter, J; Newcomb, PA; Lemarchand, L; Grove, J; Haile, R; Baron, J; Seminara, D; Limburg, P; Thibodeau, SN. Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: a study from the colon cancer family registry. Mol. Genet. Metab., 2010, 99(2), 157-9.
147. Francalanci, P; Santorelli, FM; Saccani, S; Bonetti, MF; Medicina, D; Coni, P; Faa, G; Callea, F. Z and Mmalton-1-antitrypsin deficiency-associated hepatocellular carcinoma: a genetic study. Liver Int., 2009, 29(10), 1593-6.