메뉴 건너뛰기




Volumn 5, Issue , 2011, Pages 391-405

Why has it been so difficult to prove the efficacy of alpha-I-antitrypsin replacement therapy? Insights from the study of disease pathogenesis

Author keywords

1 antitrypsin deficiency; Augmentation therapy; Emphysema

Indexed keywords

ALPHA 1 ANTITRYPSIN;

EID: 84856144387     PISSN: 11778881     EISSN: None     Source Type: Journal    
DOI: 10.2147/DDDT.S14018     Document Type: Review
Times cited : (49)

References (137)
  • 2
    • 0014530551 scopus 로고
    • Cirrhosis associated with alpha-1-antitrypsin deficiency: A previously unrecognized inherited disorder
    • 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):934-939.
    • (1969) J Lab Clin Med , vol.73 , Issue.6 , pp. 934-939
    • Sharp, H.L.1    Bridges, R.A.2    Krivit, W.3    Freier, E.F.4
  • 3
    • 0029963017 scopus 로고    scopus 로고
    • 1-antitrypsin deficiency: Evaluation of bronchiectasis with CT
    • 1-antitrypsin deficiency: evaluation of bronchiectasis with CT. Radiology. 1996;199(1):137-141.
    • (1996) Radiology , vol.199 , Issue.1 , pp. 137-141
    • King, M.A.1    Stone, J.A.2    Diaz, P.T.3
  • 4
    • 0030873292 scopus 로고    scopus 로고
    • Atopy, asthma, and emphysema in patients with severe alpha-1-antitrypsin deficiency
    • Eden E, Mitchell D, Mehlman B, et al. Atopy, asthma, and emphysema in patients with severe alpha-1-antitrypsin deficiency. Am J Respir Crit Care Med. 1997;156(1):68-74.
    • (1997) Am J Respir Crit Care Med , vol.156 , Issue.1 , pp. 68-74
    • Eden, E.1    Mitchell, D.2    Mehlman, B.3
  • 5
    • 0029925466 scopus 로고    scopus 로고
    • C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and the P-antineutrophil cytoplasmic antibody positivity with the S allele
    • Griffith ME, Lovegrove JU, Gaskin G, Whitehouse DB, Pusey CD. C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and the P-antineutrophil cytoplasmic antibody positivity with the S allele. Nephrol Dial Transplant. 1996;11(3):438-443.
    • (1996) Nephrol Dial Transplant , vol.11 , Issue.3 , pp. 438-443
    • Griffith, M.E.1    Lovegrove, J.U.2    Gaskin, G.3    Whitehouse, D.B.4    Pusey, C.D.5
  • 6
    • 0021920535 scopus 로고
    • Relationship between Weber-Christian panniculitis and the ZZ phenotype of alpha1-antitrypsin
    • Bleumink E, Klokke AH. Relationship between Weber-Christian panniculitis and the ZZ phenotype of alpha1-antitrypsin. Arch Dermatol Res. 1985;277(4):328-329.
    • (1985) Arch Dermatol Res , vol.277 , Issue.4 , pp. 328-329
    • Bleumink, E.1    Klokke, A.H.2
  • 7
    • 0030610007 scopus 로고    scopus 로고
    • 1-proteinase inhibitor by human-derived epithelial cells
    • 1-proteinase inhibitor by human-derived epithelial cells. J Biol Chem. 1997;272(13): 8250-8255.
    • (1997) J Biol Chem , vol.272 , Issue.13 , pp. 8250-8255
    • Cichy, J.1    Potempa, J.2    Travis, J.3
  • 8
    • 0028178690 scopus 로고
    • Secretion of alpha 1-antitrypsin by alveolar epithelial cells
    • Venembre P, Boutten A, Seta N, et al. Secretion of alpha 1-antitrypsin by alveolar epithelial cells. FEBS Lett. 1994;346(2-3):171-174.
    • (1994) FEBS Lett , vol.346 , Issue.2-3 , pp. 171-174
    • Venembre, P.1    Boutten, A.2    Seta, N.3
  • 11
    • 0015857329 scopus 로고
    • Interrelationships between the human alveolar macrophage and alpha-1-antitrypsin
    • Cohen AB. Interrelationships between the human alveolar macrophage and alpha-1-antitrypsin. J Clin Invest. 1973;52(11):2793-2799.
    • (1973) J Clin Invest , vol.52 , Issue.11 , pp. 2793-2799
    • Cohen, A.B.1
  • 12
    • 0022257475 scopus 로고
    • DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for the deficiency allele PI Z
    • Cox DW, Woo SL, Mansfield T. DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for the deficiency allele PI Z. Nature. 1985;316(6023):79-81.
    • (1985) Nature , vol.316 , Issue.6023 , pp. 79-81
    • Cox, D.W.1    Woo, S.L.2    Mansfield, T.3
  • 14
    • 0036433482 scopus 로고    scopus 로고
    • Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: Summary of an analysis of published genetic epidemiologic surveys
    • 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);1818-1829.
    • (2002) Chest , vol.122 , Issue.5 , pp. 1818-1829
    • de Serres, F.J.1
  • 15
    • 0028864726 scopus 로고
    • Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan
    • Seyama K, Nukiwa T, Souma S, Shimizu K, Kira S. Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan. Am J Respir Crit Care Med. 1995;152(6 pt 1):2119-2126.
    • (1995) Am J Respir Crit Care Med , vol.152 , Issue.6 PART. 1 , pp. 2119-2126
    • Seyama, K.1    Nukiwa, T.2    Souma, S.3    Shimizu, K.4    Kira, S.5
  • 16
    • 20144377618 scopus 로고    scopus 로고
    • Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency
    • Ferrarotti I, Baccheschi J, Zorzetto M, Tinelli C, Corda L, Balbi B, et al. Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency. J Med Genet. 2005; 42(3):282-287.
    • (2005) J Med Genet , vol.42 , Issue.3 , pp. 282-287
    • Ferrarotti, I.1    Baccheschi, J.2    Zorzetto, M.3    Tinelli, C.4    Corda, L.5    Balbi, B.6
  • 17
    • 0033859938 scopus 로고    scopus 로고
    • Molecular mechanisms of alpha1-antitrypsin null alleles
    • Lee JH, Brantly M. Molecular mechanisms of alpha1-antitrypsin null alleles. Respir Med. 2000;94(Suppl C):S7-S11.
    • (2000) Respir Med , vol.94 , Issue.SUPPL. C
    • Lee, J.H.1    Brantly, M.2
  • 19
    • 0018128288 scopus 로고
    • Natural history and life expectancy in severe alpha1-antitrypsin deficiency
    • Larsson C. Natural history and life expectancy in severe alpha1-antitrypsin deficiency, PiZ. Acta Med Scand. 1798;204(5):345-351.
    • (1798) PiZ. Acta Med Scand , vol.204 , Issue.5 , pp. 345-351
    • Larsson, C.1
  • 20
    • 0022638237 scopus 로고
    • Alpha 1-antitrypsin Pi-types in 965 COPD patients
    • Lieberman J, Winter B, Sastre A. Alpha 1-antitrypsin Pi-types in 965 COPD patients. Chest. 1986;89(3):370-373.
    • (1986) Chest , vol.89 , Issue.3 , pp. 370-373
    • Lieberman, J.1    Winter, B.2    Sastre, A.3
  • 21
    • 0019787989 scopus 로고
    • Replacement therapy of alpha 1-antitrypsin deficiency. Reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjects
    • Gadek JE, Klein HG, Holland, PV, Crystal RG. Replacement therapy of alpha 1-antitrypsin deficiency. Reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjects. J Clin Invest. 1981;68(5):1158-1165.
    • (1981) J Clin Invest , vol.68 , Issue.5 , pp. 1158-1165
    • Gadek, J.E.1    Klein, H.G.2    Holland, P.V.3    Crystal, R.G.4
  • 22
    • 77955487511 scopus 로고    scopus 로고
    • Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease
    • Gøtzsche PC, Johansen HK. Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease. Cochrane Database Syst Rev. 2010;7: CD007851.
    • (2010) Cochrane Database Syst Rev , vol.7
    • Gøtzsche, P.C.1    Johansen, H.K.2
  • 23
    • 0029048542 scopus 로고
    • 1-antitrypsin causes a protein folding defect
    • 1-antitrypsin causes a protein folding defect. Nat Struct Biol. 1995;2(5):363-367.
    • (1995) Nat Struct Biol , vol.2 , Issue.5 , pp. 363-367
    • Yu, M.-H.1    Lee, K.N.2    Kim, J.3
  • 26
    • 69249104575 scopus 로고    scopus 로고
    • Endoplasmic reticulum-associated degradation (ERAD) and autophagy cooperate to degrade polymerogenic mutant serpins
    • Kroeger H, Miranda E, MacLeod I, et al. Endoplasmic reticulum-associated degradation (ERAD) and autophagy cooperate to degrade polymerogenic mutant serpins. J Biol Chem. 2009;284(34):22793-22802.
    • (2009) J Biol Chem , vol.284 , Issue.34 , pp. 22793-22802
    • Kroeger, H.1    Miranda, E.2    Macleod, I.3
  • 27
    • 0029788023 scopus 로고    scopus 로고
    • 1-antitrypsin Z, in the endoplasmic reticulum requires proteasome activity
    • 1-antitrypsin Z, in the endoplasmic reticulum requires proteasome activity. J Biol Chem. 1996;271(37):22791-22795.
    • (1996) J Biol Chem , vol.271 , Issue.37 , pp. 22791-22795
    • Qu, D.1    Teckman, J.H.2    Omura, S.3    Perlmutter, D.H.4
  • 28
    • 0026570248 scopus 로고
    • Soluble aggregates of the human PiZ á1-antitrypsin variant are degraded within the endoplasmic reticulum by a mechanism sensitive to inhibitors of protein synthesis
    • Le A, Ferrell GA, Dishon DS, Le QQ, Sifer RN. Soluble aggregates of the human PiZ á1-antitrypsin variant are degraded within the endoplasmic reticulum by a mechanism sensitive to inhibitors of protein synthesis. J Biol Chem. 1992;267(2):1072-1080.
    • (1992) J Biol Chem , vol.267 , Issue.2 , pp. 1072-1080
    • Le, A.1    Ferrell, G.A.2    Dishon, D.S.3    Le, Q.Q.4    Sifer, R.N.5
  • 29
    • 0034602778 scopus 로고    scopus 로고
    • Inactive conformation of the serpin alpha(1)-antichymotrypsin indicates two-stage insertion of the reactive loop: Implications for inhibitory function and conformational disease
    • Gooptu B, Hazes B, Chang WS, et al. Inactive conformation of the serpin alpha(1)-antichymotrypsin indicates two-stage insertion of the reactive loop: implications for inhibitory function and conformational disease. Proc Natl Acad Sci U S A. 2000;97(1):67-72.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , Issue.1 , pp. 67-72
    • Gooptu, B.1    Hazes, B.2    Chang, W.S.3
  • 30
    • 19944430698 scopus 로고    scopus 로고
    • 1-antitrypsin co-localize with neutrophils in emphysematous alveoli and are chemo-tactic in vivo
    • 1-antitrypsin co-localize with neutrophils in emphysematous alveoli and are chemo-tactic in vivo. Am J Path. 2005;166(2):377-386.
    • (2005) Am J Path , vol.166 , Issue.2 , pp. 377-386
    • Mahadeva, R.1    Atkinson, C.2    Li, Z.3
  • 31
    • 67651091349 scopus 로고    scopus 로고
    • New findings in PiZZ alpha1-antitrypsin deficiency-related panniculitis. Demonstration of skin polymers and high dosing requirements of intravenous augmentation therapy
    • Gross B, Grebe M, Wencker M, Stoller JK, Bjursten LM, Janciauskiene S. New findings in PiZZ alpha1-antitrypsin deficiency-related panniculitis. Demonstration of skin polymers and high dosing requirements of intravenous augmentation therapy. Dermatology. 2009;218(4):370-375.
    • (2009) Dermatology , vol.218 , Issue.4 , pp. 370-375
    • Gross, B.1    Grebe, M.2    Wencker, M.3    Stoller, J.K.4    Bjursten, L.M.5    Janciauskiene, S.6
  • 33
    • 34250899722 scopus 로고    scopus 로고
    • Signal integration in the endoplasmic reticulum unfolded protein response
    • Ron D, Walter P. Signal integration in the endoplasmic reticulum unfolded protein response. Nat Rev Mol Cell Biol. 2007;8(7):519-529.
    • (2007) Nat Rev Mol Cell Biol , vol.8 , Issue.7 , pp. 519-529
    • Ron, D.1    Walter, P.2
  • 34
    • 0030053047 scopus 로고    scopus 로고
    • Activation of transcription factor NF-kappaB by the adenvirus E3/19 K protein requires its ER retention
    • Pahl HL, Sester M, Burgert HG, Baeuerle PA. Activation of transcription factor NF-kappaB by the adenvirus E3/19 K protein requires its ER retention. J Cell Biol. 1996;132(4):511-522.
    • (1996) J Cell Biol , vol.132 , Issue.4 , pp. 511-522
    • Pahl, H.L.1    Sester, M.2    Burgert, H.G.3    Baeuerle, P.A.4
  • 35
    • 0025258970 scopus 로고
    • 1-antitrypsin within the hepatic endoplasmic reticulum does not elevate the steady-state level of grp78/BiP
    • 1-antitrypsin within the hepatic endoplasmic reticulum does not elevate the steady-state level of grp78/BiP. J Biol Chem. 1990; 265(33):20463-20468.
    • (1990) J Biol Chem , vol.265 , Issue.33 , pp. 20463-20468
    • Graham, K.S.1    Le, A.2    Sifers, R.N.3
  • 36
    • 28244499949 scopus 로고    scopus 로고
    • 1-antitrypsin Z in the endoplasmic reticulum activates caspases-4 and-12, NF-κB, and BAP31 but not the unfolded protein response
    • 1-antitrypsin Z in the endoplasmic reticulum activates caspases-4 and-12, NF-κB, and BAP31 but not the unfolded protein response. J Biol Chem. 2005;280(47):39002-39015.
    • (2005) J Biol Chem , vol.280 , Issue.47 , pp. 39002-39015
    • Hidvegi, T.1    Schmidt, B.Z.2    Hale, P.3    Perlmutter, D.H.4
  • 37
    • 67650526104 scopus 로고    scopus 로고
    • Neuroserpin polymers activate NF-kappaB by a calcium signalling pathway that is independent of the unfolded protein response
    • Davies MJ, Miranda E, Roussel BD, Kaufman RJ, Marciniak SJ, Lomas DA. Neuroserpin polymers activate NF-kappaB by a calcium signalling pathway that is independent of the unfolded protein response. J Biol Chem. 2009;284(27):18202-18209.
    • (2009) J Biol Chem , vol.284 , Issue.27 , pp. 18202-18209
    • Davies, M.J.1    Miranda, E.2    Roussel, B.D.3    Kaufman, R.J.4    Marciniak, S.J.5    Lomas, D.A.6
  • 39
    • 1842532017 scopus 로고    scopus 로고
    • Analyses of hepatocellular proliferation in a mouse model of α-1-antitrypsin deficiency
    • Rudnick DA, Liao Y, An JK, Muglia LJ, Perlmutter DH, Teckman JH. Analyses of hepatocellular proliferation in a mouse model of α-1-antitrypsin deficiency. Hepatology. 2004;39(4):1048-1055.
    • (2004) Hepatology , vol.39 , Issue.4 , pp. 1048-1055
    • Rudnick, D.A.1    Liao, Y.2    An, J.K.3    Muglia, L.J.4    Perlmutter, D.H.5    Teckman, J.H.6
  • 40
    • 0017099344 scopus 로고
    • Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants
    • Sveger T. Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med. 1976;294(24):1316-1321.
    • (1976) N Engl J Med , vol.294 , Issue.24 , pp. 1316-1321
    • Sveger, T.1
  • 41
    • 0022637178 scopus 로고
    • Risk of cirrhosis and primary liver cancer in alpha1-antitrypsin deficiency
    • Eriksson S, Carlson J, Velez R. Risk of cirrhosis and primary liver cancer in alpha1-antitrypsin deficiency. N Engl J Med. 1986;314(12):736-739.
    • (1986) N Engl J Med , vol.314 , Issue.12 , pp. 736-739
    • Eriksson, S.1    Carlson, J.2    Velez, R.3
  • 42
    • 29144523100 scopus 로고    scopus 로고
    • High prevalence of alpha 1 antitrypsin phenotypes in viral hepatitis B infected patients in Iran
    • Hashemi M, Alavian SM, Ghavami S, et al. High prevalence of alpha 1 antitrypsin phenotypes in viral hepatitis B infected patients in Iran. Hepatol Res. 2005;33(4):292-297.
    • (2005) Hepatol Res , vol.33 , Issue.4 , pp. 292-297
    • Hashemi, M.1    Alavian, S.M.2    Ghavami, S.3
  • 43
    • 0141706635 scopus 로고    scopus 로고
    • American Thoracic Society/European Respiratory Society statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency
    • American Thoracic Society, European Respiratory Society
    • American Thoracic Society, European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900.
    • (2003) Am J Respir Crit Care Med , vol.168 , Issue.7 , pp. 818-900
  • 44
    • 16844379095 scopus 로고    scopus 로고
    • Factors associated with advanced liver disease in adults with alpha-1-antitrypsin deficiency
    • Bowlus CL, Willner I, Zern MA, et al. Factors associated with advanced liver disease in adults with alpha-1-antitrypsin deficiency. Clin Gastroenterol Hepatol. 2005;3(4):390-396.
    • (2005) Clin Gastroenterol Hepatol , vol.3 , Issue.4 , pp. 390-396
    • Bowlus, C.L.1    Willner, I.2    Zern, M.A.3
  • 45
    • 45449084422 scopus 로고    scopus 로고
    • Alpha-1-antitrpysin deficiency: Outcomes after liver transplantation
    • Kemmer N, Kaiser T, Zacharias V, Neff GW. Alpha-1-antitrpysin deficiency: outcomes after liver transplantation. Transplant Proc. 2008; 40(5):1492-1494.
    • (2008) Transplant Proc , vol.40 , Issue.5 , pp. 1492-1494
    • Kemmer, N.1    Kaiser, T.2    Zacharias, V.3    Neff, G.W.4
  • 46
    • 0031027927 scopus 로고    scopus 로고
    • Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency
    • Alpha 1-Antitrypsin Deficiency Registry Study Group
    • McElvaney NG, Stoller JK, Buist AS, et al. Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group. Chest. 1997;111(2):394-403.
    • (1997) Chest , vol.111 , Issue.2 , pp. 394-403
    • McElvaney, N.G.1    Stoller, J.K.2    Buist, A.S.3
  • 47
    • 0028543862 scopus 로고
    • Physical and social impact of alpha 1-antitrypsin deficiency: Results of a survey
    • Stoller JK, Smith P, Yang P, Spray J. Physical and social impact of alpha 1-antitrypsin deficiency: results of a survey. Cleve Clin J Med. 1994;61(6):461-467.
    • (1994) Cleve Clin J Med , vol.61 , Issue.6 , pp. 461-467
    • Stoller, J.K.1    Smith, P.2    Yang, P.3    Spray, J.4
  • 48
    • 27144471656 scopus 로고    scopus 로고
    • Delay in diagnosis of alpha1-antitrypsin deficiency: A continuing problem
    • Stoller JK, Sandhaus RA, Turino G, Dickson R, Rodgers K, Strange C. Delay in diagnosis of alpha1-antitrypsin deficiency: a continuing problem. Chest. 2005;128(4):1989-1994.
    • (2005) Chest , vol.128 , Issue.4 , pp. 1989-1994
    • Stoller, J.K.1    Sandhaus, R.A.2    Turino, G.3    Dickson, R.4    Rodgers, K.5    Strange, C.6
  • 49
    • 0021960082 scopus 로고
    • Smoking, lung function, and alpha 1-antitrypsin deficiency
    • Janus ED, Phillips NT, Carrell RW. Smoking, lung function, and alpha 1-antitrypsin deficiency. Lancet. 1985;1(8421):152-154.
    • (1985) Lancet , vol.1 , Issue.8421 , pp. 152-154
    • Janus, E.D.1    Phillips, N.T.2    Carrell, R.W.3
  • 50
    • 0035891572 scopus 로고    scopus 로고
    • Longitudinal changes in physiological, radiological, and health status measurements in alpha(1)-antitrypsin deficiency and factors associated with decline
    • Dowson LJ, Guest PJ, Stockley RA. Longitudinal changes in physiological, radiological, and health status measurements in alpha(1)-antitrypsin deficiency and factors associated with decline. Am J Respir Crit Care Med. 2001;164(10 pt 1):1805-1809.
    • (2001) Am J Respir Crit Care Med , vol.164 , Issue.10 PART. 1 , pp. 1805-1809
    • Dowson, L.J.1    Guest, P.J.2    Stockley, R.A.3
  • 51
    • 0033836981 scopus 로고    scopus 로고
    • Occupational exposure risks in individuals with PI*Z alpha(1)-antitrypsin deficiency
    • 553-538
    • Mayer AS, Stoller JK, Bucher BB, et al. Occupational exposure risks in individuals with PI*Z alpha(1)-antitrypsin deficiency. Am J Respir Crit Care Med. 2000;162(2 pt 1):553-538.
    • (2000) Am J Respir Crit Care Med , vol.162 , Issue.2 PART. 1
    • Mayer, A.S.1    Stoller, J.K.2    Bucher, B.B.3
  • 52
    • 0023840570 scopus 로고
    • Alpha 1 antitrypsin deficiency due to Pi null: Clinical presentation and evidence for molecular heterogeneity
    • Bamforth FJ, Kalsheker NA. Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity. J Med Genet. 1988;25(2):83-87.
    • (1988) J Med Genet , vol.25 , Issue.2 , pp. 83-87
    • Bamforth, F.J.1    Kalsheker, N.A.2
  • 53
    • 0021361307 scopus 로고
    • Measurement of soluble proteins in lung secretions
    • Stockley RA. Measurement of soluble proteins in lung secretions. Thorax. 1984;39(4):241-247.
    • (1984) Thorax , vol.39 , Issue.4 , pp. 241-247
    • Stockley, R.A.1
  • 54
    • 0032065494 scopus 로고    scopus 로고
    • Lung polymers in Z α-1-antitrypsin deficiency-related emphysema
    • Elliott PR, Bilton D, Lomas DA. Lung polymers in Z α-1-antitrypsin deficiency-related emphysema. Am J Respir Cell Mol Biol. 1998;18(5):670-674.
    • (1998) Am J Respir Cell Mol Biol , vol.18 , Issue.5 , pp. 670-674
    • Elliott, P.R.1    Bilton, D.2    Lomas, D.A.3
  • 55
    • 2442488539 scopus 로고    scopus 로고
    • Z α-1-antitrypsin polymerizes in the lung and acts as a neutrophil chemoattractant
    • Mulgrew AT, Taggart CC, Lawless MW, et al. Z α-1-antitrypsin polymerizes in the lung and acts as a neutrophil chemoattractant. Chest. 2004;125(5):1952-1957.
    • (2004) Chest , vol.125 , Issue.5 , pp. 1952-1957
    • Mulgrew, A.T.1    Taggart, C.C.2    Lawless, M.W.3
  • 56
    • 84859114529 scopus 로고    scopus 로고
    • Oxidation of Z{alpha}1-antitrypsin by cigarette smoke induces polymerisation: A novel mechanism of early-onset emphysema
    • Epub ahead of print
    • Alam S, Li Z, Janciauskiene S, Mahadeva R. Oxidation of Z{alpha}1-antitrypsin by cigarette smoke induces polymerisation: a novel mechanism of early-onset emphysema. Am J Respir Cell Mol Biol. 2010. [Epub ahead of print].
    • (2010) Am J Respir Cell Mol Biol
    • Alam, S.1    Li, Z.2    Janciauskiene, S.3    Mahadeva, R.4
  • 57
    • 0036014834 scopus 로고    scopus 로고
    • Polymers of alpha(1)-antitrypsin are chemotactic for human neutrophils: A new paradigm for the pathogenesis of emphysema
    • Parmar JS, Mahadeva R, Reed BJ, et al. 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;26(6):723-730.
    • (2002) Am J Respir Cell Mol Biol , vol.26 , Issue.6 , pp. 723-730
    • Parmar, J.S.1    Mahadeva, R.2    Reed, B.J.3
  • 58
    • 0036347640 scopus 로고    scopus 로고
    • Sputum chemotactic activity in chronic obstructive pulmonary disease: Effect of alpha(1)-antitrypsin deficiency and the role of leukotriene B(4) and interleukin 8
    • Woolhouse IS, Bayley DL, Stockley RA. Sputum chemotactic activity in chronic obstructive pulmonary disease: effect of alpha(1)-antitrypsin deficiency and the role of leukotriene B(4) and interleukin 8. Thorax. 2002;57(8):709-714.
    • (2002) Thorax , vol.57 , Issue.8 , pp. 709-714
    • Woolhouse, I.S.1    Bayley, D.L.2    Stockley, R.A.3
  • 59
    • 0026229834 scopus 로고
    • Neutrophil accumulation in the lung in alpha 1-antitrypsin deficiency. Spontaneous release of leukotriene B4 by alveolar macrophages
    • Hubbard RC, Fells G, Gadek J, Pacholok S, Humes J, Crystal RG. Neutrophil accumulation in the lung in alpha 1-antitrypsin deficiency. Spontaneous release of leukotriene B4 by alveolar macrophages. J Clin Invest. 1991;88(3):891-897.
    • (1991) J Clin Invest , vol.88 , Issue.3 , pp. 891-897
    • Hubbard, R.C.1    Fells, G.2    Gadek, J.3    Pacholok, S.4    Humes, J.5    Crystal, R.G.6
  • 60
    • 0023546615 scopus 로고
    • Z-type alpha 1-antitrypsin is less competent than M1-type alpha-1 antitrypsin as an inhibitor of neutrophil elastase
    • Ogushi F, Fells GA, Hubbard RC, Straus SD, Crystal RG. Z-type alpha 1-antitrypsin is less competent than M1-type alpha-1 antitrypsin as an inhibitor of neutrophil elastase. J Clin Invest. 1987;80(5):1366-1374.
    • (1987) J Clin Invest , vol.80 , Issue.5 , pp. 1366-1374
    • Ogushi, F.1    Fells, G.A.2    Hubbard, R.C.3    Straus, S.D.4    Crystal, R.G.5
  • 61
    • 0018800894 scopus 로고
    • The oxidative inactivation of human alpha-1-proteinase inhibitor. Further evidence for methionine at the reactive center
    • Johnson D, Travis J. The oxidative inactivation of human alpha-1-proteinase inhibitor. Further evidence for methionine at the reactive center. J Biol Chem. 1979;254(10):4022-4026.
    • (1979) J Biol Chem , vol.254 , Issue.10 , pp. 4022-4026
    • Johnson, D.1    Travis, J.2
  • 62
    • 67651204310 scopus 로고    scopus 로고
    • Oxidized alpha1-antitrypsin stimulates the release of monocyte chemotactic protein-1 from lung epithelial cells: Potential role in emphysema
    • Li Z, Alam S, Wang J, Sandstrom CS, Janciauskiene S, Mahadeva R. Oxidized alpha1-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-L400.
    • (2009) Am J Physiol Lung Cell Mol Physiol , vol.297 , Issue.2
    • Li, Z.1    Alam, S.2    Wang, J.3    Sandstrom, C.S.4    Janciauskiene, S.5    Mahadeva, R.6
  • 63
    • 34248658381 scopus 로고    scopus 로고
    • Alpha-1 antitrypsin inhibits caspase-3 activity, preventing lung endothelial cell apoptosis
    • Petrache I, Fijalkowska I, Medler TR, et al. Alpha-1 antitrypsin inhibits caspase-3 activity, preventing lung endothelial cell apoptosis. Am J Pathol. 2006;169(4):1155-1166.
    • (2006) Am J Pathol , vol.169 , Issue.4 , pp. 1155-1166
    • Petrache, I.1    Fijalkowska, I.2    Medler, T.R.3
  • 64
    • 79953858686 scopus 로고    scopus 로고
    • Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema
    • Blanco I, Lara B, de Serres F. Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema. Orphanet J Rare Dis. 2011;6:14.
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 14
    • Blanco, I.1    Lara, B.2    de Serres, F.3
  • 65
    • 0030928333 scopus 로고    scopus 로고
    • The effect of inhaled glucocorticosteroids in emphysema due to alpha1-antitrypsin deficiency
    • Wilcke JT, Dirksen A. The effect of inhaled glucocorticosteroids in emphysema due to alpha1-antitrypsin deficiency. Respir Med. 1997; 91(5):275-279.
    • (1997) Respir Med , vol.91 , Issue.5 , pp. 275-279
    • Wilcke, J.T.1    Dirksen, A.2
  • 66
    • 46249098198 scopus 로고    scopus 로고
    • Inhaled corticosteroids as additional treatment in alpha-1-antitrypsin-deficieny-related COPD
    • Corda L, Bertella E, La Piana GE, Boni E, Redolfi S, Tantucci C. Inhaled corticosteroids as additional treatment in alpha-1-antitrypsin-deficieny-related COPD. Respiration. 2008;76(1):61-68.
    • (2008) Respiration , vol.76 , Issue.1 , pp. 61-68
    • Corda, L.1    Bertella, E.2    la Piana, G.E.3    Boni, E.4    Redolfi, S.5    Tantucci, C.6
  • 67
    • 0038075468 scopus 로고    scopus 로고
    • A randomized trial comparing lung-volume-reduction surgery with medical therapy for severe emphysema
    • Fishman A, Martinez F, Naunheim, et al. A randomized trial comparing lung-volume-reduction surgery with medical therapy for severe emphysema. N Engl J Med. 2003;348(21):2059-2073.
    • (2003) N Engl J Med , vol.348 , Issue.21 , pp. 2059-2073
    • Fishman, A.1    Martinez, F.2    Naunheim3
  • 68
    • 39149086117 scopus 로고    scopus 로고
    • Functional results of unilateral lung volume reduction surgery in alpha1-antitrypsin deficient patients
    • Dauriat G, Mal H, Jebrak G, et al. Functional results of unilateral lung volume reduction surgery in alpha1-antitrypsin deficient patients. Int J Chron Obstruct Pulmon Dis. 2006;1(2):201-206.
    • (2006) Int J Chron Obstruct Pulmon Dis , vol.1 , Issue.2 , pp. 201-206
    • Dauriat, G.1    Mal, H.2    Jebrak, G.3
  • 69
    • 84859136062 scopus 로고    scopus 로고
    • Endobronchial valve treatment in patients with advanced emphysema and alpha-1-antitrypsin deficiency
    • Remund KF, Bartosik W, Wood AE, Egan JJ. Endobronchial valve treatment in patients with advanced emphysema and alpha-1-antitrypsin deficiency. Thorax. 2008;63(Suppl VII):A12.
    • (2008) Thorax , vol.63 , Issue.SUPPL. VII
    • Remund, K.F.1    Bartosik, W.2    Wood, A.E.3    Egan, J.J.4
  • 70
    • 84859117554 scopus 로고    scopus 로고
    • The International Society for Heart and Lung Transplantation. Available at, Accessed March 2
    • The International Society for Heart and Lung Transplantation. Available at: http://www.ishlt.org/registries. Accessed March 2, 2011.
    • (2011)
  • 71
    • 0023148995 scopus 로고
    • Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema
    • Wewers MD, Casolaro MA, Sellers SE, et al. Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema. N Engl J Med. 1987;316(17):1055-1062.
    • (1987) N Engl J Med , vol.316 , Issue.17 , pp. 1055-1062
    • Wewers, M.D.1    Casolaro, M.A.2    Sellers, S.E.3
  • 72
    • 79951631719 scopus 로고    scopus 로고
    • The role of augmentation therapy in alpha-1 antitrypsin deficiency
    • Kueppers F. The role of augmentation therapy in alpha-1 antitrypsin deficiency. Curr Med Res Opin. 2011;27(3):579-588.
    • (2011) Curr Med Res Opin , vol.27 , Issue.3 , pp. 579-588
    • Kueppers, F.1
  • 73
    • 67649390890 scopus 로고    scopus 로고
    • Clinical Practice: Alpha1-antitrypsin deficiency
    • Silverman EK, Sandhaus RA. Clinical Practice: alpha1-antitrypsin deficiency. N Engl J Med. 2009;360(26):2749-2757.
    • (2009) N Engl J Med , vol.360 , Issue.26 , pp. 2749-2757
    • Silverman, E.K.1    Sandhaus, R.A.2
  • 74
    • 0038216603 scopus 로고    scopus 로고
    • Augmentation therapy with alpha1-antitrypsin: Patterns of use and adverse events
    • Stoller JK, Fallat R, Schluchter MD, et al. Augmentation therapy with alpha1-antitrypsin: patterns of use and adverse events. Chest. 2003; 123(5):1425-1434.
    • (2003) Chest , vol.123 , Issue.5 , pp. 1425-1434
    • Stoller, J.K.1    Fallat, R.2    Schluchter, M.D.3
  • 75
    • 0023925114 scopus 로고
    • Replacement therapy for alpha-1-protease inhibitor deficiency in PiZ subjects with chronic obstructive disease
    • Schmidt EW, Rasche B, Ulmer WT, et al. Replacement therapy for alpha-1-protease inhibitor deficiency in PiZ subjects with chronic obstructive disease. Am J Med. 1988;84(6A):63-69.
    • (1988) Am J Med , vol.84 , Issue.6 A , pp. 63-69
    • Schmidt, E.W.1    Rasche, B.2    Ulmer, W.T.3
  • 77
    • 84859146079 scopus 로고    scopus 로고
    • Accessed August 4
    • Feedback on Cochrane review; see ref 20. Available at: http://onlinelibrary.wiley.com/o/cochrane/clsysrev/articles/CD007851/frame.html. Accessed August 4, 2011.
    • (2011)
  • 78
    • 0030663669 scopus 로고    scopus 로고
    • Alpha-1-antitrypsin replacement therapy: Will its efficacy ever be proved?
    • Hutchinson DC, Hughes MD. Alpha-1-antitrypsin replacement therapy: will its efficacy ever be proved? Eur Respir J. 1997;10(10):2191-2193.
    • (1997) Eur Respir J , vol.10 , Issue.10 , pp. 2191-2193
    • Hutchinson, D.C.1    Hughes, M.D.2
  • 80
    • 0031242842 scopus 로고    scopus 로고
    • 1-antitrypsin deficiency? Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha1-AT study group
    • 1-antitrypsin deficiency? Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha1-AT study group. Eur Respir J. 1997;10(10):2260-2263.
    • (1997) Eur Respir J , vol.10 , Issue.10 , pp. 2260-2263
    • Seersholm, N.1    Wencker, M.2    Banik, N.3
  • 81
    • 0032110436 scopus 로고    scopus 로고
    • Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin
    • The Alpha-1-Antitrypsin Deficiency Registry Study Group
    • The Alpha-1-Antitrypsin Deficiency Registry Study Group. Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. Am J Respir Crit Care Med. 1998;158(1):49-59.
    • (1998) Am J Respir Crit Care Med , vol.158 , Issue.1 , pp. 49-59
  • 83
    • 77949329900 scopus 로고    scopus 로고
    • Alpha-1-antitrypsin augmentation therapy in deficient individuals enrolled in the Alpha-1 Foundation DNA and Tissue Bank
    • Tonelli AR, Rouhani F, Li N, Schreck P, Brantly ML. Alpha-1-antitrypsin augmentation therapy in deficient individuals enrolled in the Alpha-1 Foundation DNA and Tissue Bank. Int J Chron Obstruct Pulmon Dis. 2009;4:443-452.
    • (2009) Int J Chron Obstruct Pulmon Dis , vol.4 , pp. 443-452
    • Tonelli, A.R.1    Rouhani, F.2    Li, N.3    Schreck, P.4    Brantly, M.L.5
  • 85
    • 0023784904 scopus 로고
    • Biochemical efficacy and safety of monthly augmentation therapy for alpha 1-antitrypsin deficiency
    • Hubbard RC, Sellers S, Czerski D, Stephens L, Crystal RG. Biochemical efficacy and safety of monthly augmentation therapy for alpha 1-antitrypsin deficiency. JAMA. 1988;260(9):1259-1264.
    • (1988) JAMA , vol.260 , Issue.9 , pp. 1259-1264
    • Hubbard, R.C.1    Sellers, S.2    Czerski, D.3    Stephens, L.4    Crystal, R.G.5
  • 88
    • 33847713864 scopus 로고    scopus 로고
    • Slower lung function decline during augmentation therapy in patients with alpha 1-antitrypsin efficiency (A1ATD): Results from the Canadian AIR registry
    • Chapman KR, Bradi AC, Paterson D, et al. Slower lung function decline during augmentation therapy in patients with alpha 1-antitrypsin efficiency (A1ATD): results from the Canadian AIR registry. Proc Am Thorac Soc. 2005:A808.
    • (2005) Proc Am Thorac Soc
    • Chapman, K.R.1    Bradi, A.C.2    Paterson, D.3
  • 89
    • 70350450961 scopus 로고    scopus 로고
    • Augmentation therapy for alpha1-antitrypsin deficiency: A meta-analysis
    • Chapman KR, Stockley RA, Dawkins C, et al. Augmentation therapy for alpha1-antitrypsin deficiency: a meta-analysis. COPD. 2009;6(3): 177-184.
    • (2009) COPD , vol.6 , Issue.3 , pp. 177-184
    • Chapman, K.R.1    Stockley, R.A.2    Dawkins, C.3
  • 90
    • 77957273246 scopus 로고    scopus 로고
    • Therapeutic efficacy of alpha-1 antitrypsin augmentation therapy on the loss of lung tissue: An integrated analysis of 2 randomised clinical trials using computed tomography densitometry
    • Stockley RA, Parr DG, Piitulainen E, et al. Therapeutic efficacy of alpha-1 antitrypsin augmentation therapy on the loss of lung tissue: an integrated analysis of 2 randomised clinical trials using computed tomography densitometry. Respir Res. 2010;11:136.
    • (2010) Respir Res , vol.11 , pp. 136
    • Stockley, R.A.1    Parr, D.G.2    Piitulainen, E.3
  • 91
    • 0033739182 scopus 로고    scopus 로고
    • Augmentation therapy reduces frequency of lung infections in antitrypsin deficiency: A new hypothesis with supporting data
    • Lieberman J. Augmentation therapy reduces frequency of lung infections in antitrypsin deficiency: a new hypothesis with supporting data. Chest. 2000;118(5):1480-1485.
    • (2000) Chest , vol.118 , Issue.5 , pp. 1480-1485
    • Lieberman, J.1
  • 92
    • 69349090395 scopus 로고    scopus 로고
    • Exacerbations in subjects with alpha-1 antitrypsin deficiency receiving augmentation therapy
    • Campos MA, Alazemi S, Zhang G, et al. Exacerbations in subjects with alpha-1 antitrypsin deficiency receiving augmentation therapy. Respir Med. 2009;103(10):1532-1539.
    • (2009) Respir Med , vol.103 , Issue.10 , pp. 1532-1539
    • Campos, M.A.1    Alazemi, S.2    Zhang, G.3
  • 95
    • 0019984864 scopus 로고
    • Serum levels of acute phase and cardiac proteins after myocardial infarction, surgery and infection
    • Voulgari F, Cummins P, Gardecki TI, Beeching NJ, Stone PC, Stuart J. Serum levels of acute phase and cardiac proteins after myocardial infarction, surgery and infection. Br Heart J. 1982;48(4):352-356.
    • (1982) Br Heart J , vol.48 , Issue.4 , pp. 352-356
    • Voulgari, F.1    Cummins, P.2    Gardecki, T.I.3    Beeching, N.J.4    Stone, P.C.5    Stuart, J.6
  • 97
    • 35848929750 scopus 로고    scopus 로고
    • 1-antitrypsin and increase the clearance of intracellular aggregates
    • 1-antitrypsin and increase the clearance of intracellular aggregates. J Med Chem. 2007;50(22):5357-5363.
    • (2007) J Med Chem , vol.50 , Issue.22 , pp. 5357-5363
    • Mallya, M.1    Phillips, R.L.2    Saldanha, S.A.3
  • 100
    • 0032952611 scopus 로고    scopus 로고
    • Molecular characterization of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369 Leu), and Q0lisbon (Thr68Ile)
    • Poller W, Merklein F, Schneider-Rasp S, et al. Molecular characterization of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369 Leu), and Q0lisbon (Thr68Ile). Eur J Hum Genet. 1999;7(3):321-331.
    • (1999) Eur J Hum Genet , vol.7 , Issue.3 , pp. 321-331
    • Poller, W.1    Merklein, F.2    Schneider-Rasp, S.3
  • 101
    • 0024404992 scopus 로고
    • In-frame single codon deletion in the Mmalton deficiency allele of a1-antitrypsin
    • Fraizer GC, Harrold TR, Hofker MH, Cox DW. In-frame single codon deletion in the Mmalton deficiency allele of a1-antitrypsin. Am J Hum Genet. 1989;44(6):894-902.
    • (1989) Am J Hum Genet , vol.44 , Issue.6 , pp. 894-902
    • Fraizer, G.C.1    Harrold, T.R.2    Hofker, M.H.3    Cox, D.W.4
  • 102
    • 0025022347 scopus 로고
    • Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele
    • Curiel DT, Vogelmeier C, Hubbard RC, Stier LE, Crystal RG. Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele. Mol Cell Biol. 1990;10(1):47-56.
    • (1990) Mol Cell Biol , vol.10 , Issue.1 , pp. 47-56
    • Curiel, D.T.1    Vogelmeier, C.2    Hubbard, R.C.3    Stier, L.E.4    Crystal, R.G.5
  • 103
    • 0025344581 scopus 로고
    • Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan
    • Matsunaga E, Shiokawa S, Nakamura H, Maruyama T, Tsuda K, Fukumaki Y. Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan. Am J Hum Gene. 1990;46(3):602-612.
    • (1990) Am J Hum Gene , vol.46 , Issue.3 , pp. 602-612
    • Matsunaga, E.1    Shiokawa, S.2    Nakamura, H.3    Maruyama, T.4    Tsuda, K.5    Fukumaki, Y.6
  • 104
    • 0028150714 scopus 로고
    • Identification and DNA sequence analysis of 15 new alpha-1 antitrypsin variants, including 2 PiQO alleles and one deficient PiM allele
    • Faber J-P, Poller W, Weidinger S, et al. Identification and DNA sequence analysis of 15 new alpha-1 antitrypsin variants, including 2 PiQO alleles and one deficient PiM allele. Am J Hum Genet. 1994; 55(6):1113-1121.
    • (1994) Am J Hum Genet , vol.55 , Issue.6 , pp. 1113-1121
    • Faber, J.-P.1    Poller, W.2    Weidinger, S.3
  • 105
    • 0023771439 scopus 로고
    • Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida
    • Takahashi H, Nukiwa T, Satoh K, et al. Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida. J Biol Chem. 1988;263(30):15528-15534.
    • (1988) J Biol Chem , vol.263 , Issue.30 , pp. 15528-15534
    • Takahashi, H.1    Nukiwa, T.2    Satoh, K.3
  • 106
    • 0034095860 scopus 로고    scopus 로고
    • Characterization of the new alpha-1-antitrypsin-deficient PI M-type allele, PI M(vall d'hebron) (Pro(369)--.Ser)
    • Jardi R, Rodriguez-Frias F, Lopez-Talavera JC, et al. Characterization of the new alpha-1-antitrypsin-deficient PI M-type allele, PI M(vall d'hebron) (Pro(369)--.Ser). Hum Hered. 2000;50(5):320-321.
    • (2000) Hum Hered , vol.50 , Issue.5 , pp. 320-321
    • Jardi, R.1    Rodriguez-Frias, F.2    Lopez-Talavera, J.C.3
  • 107
    • 0344851808 scopus 로고    scopus 로고
    • MVarallo: A new M(Like) alpha 1-antitrypsin-deficient allele
    • Coni P, Pili E, Convertino G, et al. MVarallo: a new M(Like) alpha 1-antitrypsin-deficient allele. Diagn Mol Pathol. 2003;12(4):237-239.
    • (2003) Diagn Mol Pathol , vol.12 , Issue.4 , pp. 237-239
    • Coni, P.1    Pili, E.2    Convertino, G.3
  • 108
    • 0020510606 scopus 로고
    • Mutation of antitrypsin to antithrombin. Alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder
    • Owen MC, Brennan SO, Lewis JH, Carrell RW. Mutation of antitrypsin to antithrombin. Alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder. N Engl J Med. 1983;309(12):694-698.
    • (1983) N Engl J Med , vol.309 , Issue.12 , pp. 694-698
    • Owen, M.C.1    Brennan, S.O.2    Lewis, J.H.3    Carrell, R.W.4
  • 109
    • 0024707223 scopus 로고
    • The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene
    • Faber JP, Weidinger S, Goedde HW, Ole K. The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene. Am J Hum Genet. 1989;45(1):161-163.
    • (1989) Am J Hum Genet , vol.45 , Issue.1 , pp. 161-163
    • Faber, J.P.1    Weidinger, S.2    Goedde, H.W.3    Ole, K.4
  • 110
    • 0024820821 scopus 로고
    • Molecular characterisation of three alpha-1-antitrypsin deficiency variants: Proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys)
    • Graham A, Kalsheker NA, Newton CR, Bamforth FJ, Powell SJ, Markham AF. Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys). Hum Genet. 1989;84(1):55-58.
    • (1989) Hum Genet , vol.84 , Issue.1 , pp. 55-58
    • Graham, A.1    Kalsheker, N.A.2    Newton, C.R.3    Bamforth, F.J.4    Powell, S.J.5    Markham, A.F.6
  • 111
    • 0027325825 scopus 로고
    • Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: Alpha 1-antitrypsin deficiency variant Pduarte
    • Hildesheim J, Kinsley G, Bissell M, Pierce J, Brantly M. Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant Pduarte. Hum Mutat. 1993;2(3):221-228.
    • (1993) Hum Mutat , vol.2 , Issue.3 , pp. 221-228
    • Hildesheim, J.1    Kinsley, G.2    Bissell, M.3    Pierce, J.4    Brantly, M.5
  • 112
    • 0024558042 scopus 로고
    • Alpha-1-antitrypsin protease inhibitor SZ phenotype and liver cirrhosis
    • Coli A, Bigotti G. Alpha-1-antitrypsin protease inhibitor SZ phenotype and liver cirrhosis. Appl Pathol. 1989;7(1):54-60.
    • (1989) Appl Pathol , vol.7 , Issue.1 , pp. 54-60
    • Coli, A.1    Bigotti, G.2
  • 113
    • 70449434989 scopus 로고    scopus 로고
    • CT scan appearance, densitometry, and health status in protease inhibitor SZ alpha1-antitrypsin deficiency
    • Holme J, Stockley RA. CT scan appearance, densitometry, and health status in protease inhibitor SZ alpha1-antitrypsin deficiency. Chest. 2009;136(5):1284-1290.
    • (2009) Chest , vol.136 , Issue.5 , pp. 1284-1290
    • Holme, J.1    Stockley, R.A.2
  • 114
    • 0035544321 scopus 로고    scopus 로고
    • 1-antitrypsin PI S and PI Z frequencies in countries outside Europe: A meta-analysis
    • 1-antitrypsin PI S and PI Z frequencies in countries outside Europe: a meta-analysis. Clin Genet. 2001;60(6):431-441.
    • (2001) Clin Genet , vol.60 , Issue.6 , pp. 431-441
    • Blanco, I.1    Bustillo, E.F.2    Rodriguez, M.C.3
  • 115
    • 0027338101 scopus 로고
    • PI*S(iiyama), a deficiency gene of alpha 1-antitrypsin: Evidence for the occurrence in western Japan
    • Yuasa I, Sugimoto Y, Ichinose M, et al. PI*S(iiyama), a deficiency gene of alpha 1-antitrypsin: evidence for the occurrence in western Japan. Jpn J Hum Genet. 1993;38(2):185-191.
    • (1993) Jpn J Hum Genet , vol.38 , Issue.2 , pp. 185-191
    • Yuasa, I.1    Sugimoto, Y.2    Ichinose, M.3
  • 116
    • 0025144367 scopus 로고
    • Alpha 1-antitrypsin Wbethesda: Molecular basis of an unusual alpha 1-antitrypsin deficiency variant
    • Holmes MD, Brantly ML, Fells GA, Crystal RG. Alpha 1-antitrypsin Wbethesda: molecular basis of an unusual alpha 1-antitrypsin deficiency variant. Biochem Biophys Res Commun. 1990;170(3):1013-1020.
    • (1990) Biochem Biophys Res Commun , vol.170 , Issue.3 , pp. 1013-1020
    • Holmes, M.D.1    Brantly, M.L.2    Fells, G.A.3    Crystal, R.G.4
  • 117
    • 0032222881 scopus 로고    scopus 로고
    • Identification and molecular characterization of the new alpha-1-antitrypsin deficient allele PI Y barcelona (Asp256--.Val and Pro391--.His). Mutations in brief no.174. Online
    • Jardi R, Rodriguez F, Miravitlles M, et al. Identification and molecular characterization of the new alpha-1-antitrypsin deficient allele PI Y barcelona (Asp256--.Val and Pro391--.His). Mutations in brief no.174. Online. Hum Mutat. 1998;12(3):213.
    • (1998) Hum Mutat , vol.12 , Issue.3 , pp. 213
    • Jardi, R.1    Rodriguez, F.2    Miravitlles, M.3
  • 118
    • 78349265383 scopus 로고    scopus 로고
    • 1-antitrypsin protease inhibitor MZ heterozygosity is associated with airflow obstruction in two large cohorts
    • 1-antitrypsin protease inhibitor MZ heterozygosity is associated with airflow obstruction in two large cohorts. Chest. 2010;138(5):1125-1132.
    • (2010) Chest , vol.138 , Issue.5 , pp. 1125-1132
    • Sørheim, I.C.1    Bakke, P.2
  • 119
    • 0031682958 scopus 로고    scopus 로고
    • Increased risk of chronic liver failure in adults with heterozygous alpha1-antitrypsin deficiency
    • Graziadei IW, Joseph JJ, Wiesner RH, Therneau TM, Batts KP, Porayko MK. Increased risk of chronic liver failure in adults with heterozygous alpha1-antitrypsin deficiency. Hepatology. 1998;28(4):1058-1063.
    • (1998) Hepatology , vol.28 , Issue.4 , pp. 1058-1063
    • Graziadei, I.W.1    Joseph, J.J.2    Wiesner, R.H.3    Therneau, T.M.4    Batts, K.P.5    Porayko, M.K.6
  • 120
    • 0022195417 scopus 로고
    • Alpha-1-antitrypsin: Evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg
    • Weidinger S, Jahn W, Cujnik F, Schwarzfischer F. Alpha-1-antitrypsin: evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg. Hum Genet. 1985;71(1):27-29.
    • (1985) Hum Genet , vol.71 , Issue.1 , pp. 27-29
    • Weidinger, S.1    Jahn, W.2    Cujnik, F.3    Schwarzfischer, F.4
  • 121
    • 0024388280 scopus 로고
    • Genetic studies on a new deficiency gene (PI*Ztun) at the PI locus
    • Whitehouse DB, Abbott CM, Lovegrove JU, et al. Genetic studies on a new deficiency gene (PI*Ztun) at the PI locus. J Med Genet. 1989;26(12):744-749.
    • (1989) J Med Genet , vol.26 , Issue.12 , pp. 744-749
    • Whitehouse, D.B.1    Abbott, C.M.2    Lovegrove, J.U.3
  • 122
    • 0025153599 scopus 로고
    • Molecular characterisation of two alpha-1-antitrypsin deficiency variants: Proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu)
    • Graham A, Kalsheker NA, Bamforth FJ, Newton CR, Markham AF. Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu). Hum Genet. 1990;85(5):537-540.
    • (1990) Hum Genet , vol.85 , Issue.5 , pp. 537-540
    • Graham, A.1    Kalsheker, N.A.2    Bamforth, F.J.3    Newton, C.R.4    Markham, A.F.5
  • 123
    • 0023877411 scopus 로고
    • 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
    • Satoh K, Nukiwa T, Brantly M, et al. 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. Am J Hum Genet. 1988;42(1):77-83.
    • (1988) Am J Hum Genet , vol.42 , Issue.1 , pp. 77-83
    • Satoh, K.1    Nukiwa, T.2    Brantly, M.3
  • 124
    • 0024404992 scopus 로고
    • In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin
    • Fraizer GC, Harrold TR, Hofker MH, Cox DW. In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin. Am J Hum Genet. 1989;44(6):894-902.
    • (1989) Am J Hum Genet , vol.44 , Issue.6 , pp. 894-902
    • Fraizer, G.C.1    Harrold, T.R.2    Hofker, M.H.3    Cox, D.W.4
  • 125
    • 19544393372 scopus 로고    scopus 로고
    • Identification of a novel alpha1-antitrypsin null variant (Q0Cairo)
    • Zorzetto M, Ferrarotti I, Campo I, et al. Identification of a novel alpha1-antitrypsin null variant (Q0Cairo). Diagn Mol Pathol. 2005;14(2):121-124.
    • (2005) Diagn Mol Pathol , vol.14 , Issue.2 , pp. 121-124
    • Zorzetto, M.1    Ferrarotti, I.2    Campo, I.3
  • 126
    • 0000840983 scopus 로고    scopus 로고
    • Alpha1-antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant
    • Brantly M, Lee JH, Hildesheim J, et al. Alpha1-antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant. Am J Respir Cell Mol Biol. 1997;16(3):225-231.
    • (1997) Am J Respir Cell Mol Biol , vol.16 , Issue.3 , pp. 225-231
    • Brantly, M.1    Lee, J.H.2    Hildesheim, J.3
  • 127
    • 0023645492 scopus 로고
    • alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon
    • Nukiwa T, Takahashi H, Brantly M, Courtney M, Crystal RG. alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon. J Biol Chem. 1987;262(25):11999-12004.
    • (1987) J Biol Chem , vol.262 , Issue.25 , pp. 11999-12004
    • Nukiwa, T.1    Takahashi, H.2    Brantly, M.3    Courtney, M.4    Crystal, R.G.5
  • 128
    • 0023907965 scopus 로고
    • A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum
    • Sifers RN, Brashears-Macatee S, Kidd VJ, Muensch H, Woo SL. A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum. J Biol Chem. 1988; 263(15):7330-7335.
    • (1988) J Biol Chem , vol.263 , Issue.15 , pp. 7330-7335
    • Sifers, R.N.1    Brashears-Macatee, S.2    Kidd, V.J.3    Muensch, H.4    Woo, S.L.5
  • 129
    • 0025193198 scopus 로고
    • Alpha 1-antitrypsin Null (isola di procida): An alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons
    • Takahashi H, Crystal RG. Alpha 1-antitrypsin Null (isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons. Am J Hum Genet. 1990;47(3):403-413.
    • (1990) Am J Hum Genet , vol.47 , Issue.3 , pp. 403-413
    • Takahashi, H.1    Crystal, R.G.2
  • 130
    • 0025639019 scopus 로고
    • A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure
    • Frazier GC, Siewertsen MA, Hofker MH, Brubacher MG, Cox DW. A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure. J Clin Invest. 1990;86(6):1878-1884.
    • (1990) J Clin Invest , vol.86 , Issue.6 , pp. 1878-1884
    • Frazier, G.C.1    Siewertsen, M.A.2    Hofker, M.H.3    Brubacher, M.G.4    Cox, D.W.5
  • 131
    • 0024577597 scopus 로고
    • Alpha-1-antitrypsin deficiency caused by the alpha-1-antitrypsin nullmattawa gene
    • Curiel D, Brantly M, Curiel E, Stier L, Crystal RG. Alpha-1-antitrypsin deficiency caused by the alpha-1-antitrypsin nullmattawa gene. J Clin Invest. 1989;83(4):1144-1152.
    • (1989) J Clin Invest , vol.83 , Issue.4 , pp. 1144-1152
    • Curiel, D.1    Brantly, M.2    Curiel, E.3    Stier, L.4    Crystal, R.G.5
  • 132
    • 84859131167 scopus 로고    scopus 로고
    • Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: Clinical features, haplotype characterization and history
    • Epub ahead of print
    • Vaz Rodrigues L, Costa F, Marques P, Mendonça C, Rocha J, Seixas S. Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history. Clin Genet. 2011. [Epub ahead of print].
    • (2011) Clin Genet
    • Vaz Rodrigues, L.1    Costa, F.2    Marques, P.3    Mendonça, C.4    Rocha, J.5    Seixas, S.6
  • 133
    • 0025765720 scopus 로고
    • DNA polymorphisms associated with a new alpha 1-antitrypsin PIQ0 variant (PIQ0riedenburg)
    • Poller W, Faber JP, Weidinger S, Olek K. DNA polymorphisms associated with a new alpha 1-antitrypsin PIQ0 variant (PIQ0riedenburg). Hum Genet. 1991;86(5):522-524.
    • (1991) Hum Genet , vol.86 , Issue.5 , pp. 522-524
    • Poller, W.1    Faber, J.P.2    Weidinger, S.3    Olek, K.4
  • 134
    • 0032051454 scopus 로고    scopus 로고
    • Alpha-1-antitrypsin nonsense mutation associated with retained truncated protein and reduced mRNA
    • Lee J, Novoradovskaya N, Rundquist B, Rewine J, Saltini C, Brantly M. Alpha-1-antitrypsin nonsense mutation associated with retained truncated protein and reduced mRNA. Mol Genet Metab. 1998;63(4):270-280.
    • (1998) Mol Genet Metab , vol.63 , Issue.4 , pp. 270-280
    • Lee, J.1    Novoradovskaya, N.2    Rundquist, B.3    Rewine, J.4    Saltini, C.5    Brantly, M.6
  • 135
    • 0027260319 scopus 로고
    • Characterization of a human alpha 1-antitrypsin null allele involving aberrant mRNA splicing
    • Laubach VE, Ryan WJ, Brantly M. Characterization of a human alpha 1-antitrypsin null allele involving aberrant mRNA splicing. Hum Mol Genet. 1993;2(7):1001-1005.
    • (1993) Hum Mol Genet , vol.2 , Issue.7 , pp. 1001-1005
    • Laubach, V.E.1    Ryan, W.J.2    Brantly, M.3
  • 136
    • 20944443625 scopus 로고    scopus 로고
    • Molecular mousetraps and the serpinopathies
    • Lomas DA, Belorgey D, Mallya M, et al. Molecular mousetraps and the serpinopathies. Biochem Soc Trans. 2005;33(pt 2):321-330.
    • (2005) Biochem Soc Trans , vol.33 , Issue.PART 2 , pp. 321-330
    • Lomas, D.A.1    Belorgey, D.2    Mallya, M.3
  • 137
    • 0027295822 scopus 로고
    • Alpha1-antitrypsin Siiyama (Ser53Phe). Further evidence for intracellular loop-sheet polymerization
    • Lomas DA, Finch JT, Seyama K, Nukiwa T, Carrell RW. Alpha1-antitrypsin Siiyama (Ser53Phe). Further evidence for intracellular loop-sheet polymerization. J Biol Chem. 1993;268(21):15333-15335.
    • (1993) J Biol Chem , vol.268 , Issue.21 , pp. 15333-15335
    • Lomas, D.A.1    Finch, J.T.2    Seyama, K.3    Nukiwa, T.4    Carrell, R.W.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.