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Selected References
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- Brantly M., Courtney M., Crystal R. G. Repair of the secretion defect in the Z form of alpha 1-antitrypsin by addition of a second mutation. Science. 1988 Dec 23;242(4886):1700–1702. doi: 10.1126/science.2904702. [DOI] [PubMed] [Google Scholar]
- Brantly M., Nukiwa T., Crystal R. G. Molecular basis of alpha-1-antitrypsin deficiency. Am J Med. 1988 Jun 24;84(6A):13–31. doi: 10.1016/0002-9343(88)90154-4. [DOI] [PubMed] [Google Scholar]
- Carlson J. A., Rogers B. B., Sifers R. N., Finegold M. J., Clift S. M., DeMayo F. J., Bullock D. W., Woo S. L. Accumulation of PiZ alpha 1-antitrypsin causes liver damage in transgenic mice. J Clin Invest. 1989 Apr;83(4):1183–1190. doi: 10.1172/JCI113999. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Carrell R. W., Aulak K. S., Owen M. C. The molecular pathology of the serpins. Mol Biol Med. 1989 Feb;6(1):35–42. [PubMed] [Google Scholar]
- Carrell R. W., Jeppsson J. O., Laurell C. B., Brennan S. O., Owen M. C., Vaughan L., Boswell D. R. Structure and variation of human alpha 1-antitrypsin. Nature. 1982 Jul 22;298(5872):329–334. doi: 10.1038/298329a0. [DOI] [PubMed] [Google Scholar]
- Carrell R. W. alpha 1-Antitrypsin: molecular pathology, leukocytes, and tissue damage. J Clin Invest. 1986 Dec;78(6):1427–1431. doi: 10.1172/JCI112731. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Courtney M., Jallat S., Tessier L. H., Benavente A., Crystal R. G., Lecocq J. P. Synthesis in E. coli of alpha 1-antitrypsin variants of therapeutic potential for emphysema and thrombosis. Nature. 1985 Jan 10;313(5998):149–151. doi: 10.1038/313149a0. [DOI] [PubMed] [Google Scholar]
- Crystal R. G., Brantly M. L., Hubbard R. C., Curiel D. T., States D. J., Holmes M. D. The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategies for therapy. Chest. 1989 Jan;95(1):196–208. doi: 10.1378/chest.95.1.196. [DOI] [PubMed] [Google Scholar]
- Crystal R. G. The alpha 1-antitrypsin gene and its deficiency states. Trends Genet. 1989 Dec;5(12):411–417. doi: 10.1016/0168-9525(89)90200-x. [DOI] [PubMed] [Google Scholar]
- Curiel D. T., Chytil A., Courtney M., Crystal R. G. Serum alpha 1-antitrypsin deficiency associated with the common S-type (Glu264----Val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion. J Biol Chem. 1989 Jun 25;264(18):10477–10486. [PubMed] [Google Scholar]
- Curiel D. T., Holmes M. D., Okayama H., Brantly M. L., Vogelmeier C., Travis W. D., Stier L. E., Perks W. H., Crystal R. G. Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton. J Biol Chem. 1989 Aug 15;264(23):13938–13945. [PubMed] [Google Scholar]
- Curiel D. T., Vogelmeier C., Hubbard R. C., Stier L. E., Crystal R. G. Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele. Mol Cell Biol. 1990 Jan;10(1):47–56. doi: 10.1128/mcb.10.1.47. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Eriksson S., Carlson J., Velez R. Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency. N Engl J Med. 1986 Mar 20;314(12):736–739. doi: 10.1056/NEJM198603203141202. [DOI] [PubMed] [Google Scholar]
- Gadek J. E., Fells G. A., Zimmerman R. L., Rennard S. I., Crystal R. G. Antielastases of the human alveolar structures. Implications for the protease-antiprotease theory of emphysema. J Clin Invest. 1981 Oct;68(4):889–898. doi: 10.1172/JCI110344. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Gadek J. E., Klein H. G., Holland P. V., Crystal R. G. Replacement therapy of alpha 1-antitrypsin deficiency. Reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjects. J Clin Invest. 1981 Nov;68(5):1158–1165. doi: 10.1172/JCI110360. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Garver R. I., Jr, Chytil A., Courtney M., Crystal R. G. Clonal gene therapy: transplanted mouse fibroblast clones express human alpha 1-antitrypsin gene in vivo. Science. 1987 Aug 14;237(4816):762–764. doi: 10.1126/science.3497452. [DOI] [PubMed] [Google Scholar]
- Grossman A., Silver R. T., Arlin Z., Coleman M., Camposano E., Gascon P., Benn P. A. Fine mapping of chromosome 22 breakpoints within the breakpoint cluster region (bcr) implies a role for bcr exon 3 in determining disease duration in chronic myeloid leukemia. Am J Hum Genet. 1989 Nov;45(5):729–738. [PMC free article] [PubMed] [Google Scholar]
- Hubbard R. C., Brantly M. L., Sellers S. E., Mitchell M. E., Crystal R. G. Anti-neutrophil-elastase defenses of the lower respiratory tract in alpha 1-antitrypsin deficiency directly augmented with an aerosol of alpha 1-antitrypsin. Ann Intern Med. 1989 Aug 1;111(3):206–212. doi: 10.7326/0003-4819-111-3-206. [DOI] [PubMed] [Google Scholar]
- Hubbard R. C., Crystal R. G. Alpha-1-antitrypsin augmentation therapy for alpha-1-antitrypsin deficiency. Am J Med. 1988 Jun 24;84(6A):52–62. doi: 10.1016/0002-9343(88)90159-3. [DOI] [PubMed] [Google Scholar]
- Hubbard R. C., McElvaney N. G., Sellers S. E., Healy J. T., Czerski D. B., Crystal R. G. Recombinant DNA-produced alpha 1-antitrypsin administered by aerosol augments lower respiratory tract antineutrophil elastase defenses in individuals with alpha 1-antitrypsin deficiency. J Clin Invest. 1989 Oct;84(4):1349–1354. doi: 10.1172/JCI114305. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hubbard R. C., Sellers S., Czerski D., Stephens L., Crystal R. G. Biochemical efficacy and safety of monthly augmentation therapy for alpha 1-antitrypsin deficiency. JAMA. 1988 Sep 2;260(9):1259–1264. [PubMed] [Google Scholar]
- Janoff A. Elastases and emphysema. Current assessment of the protease-antiprotease hypothesis. Am Rev Respir Dis. 1985 Aug;132(2):417–433. doi: 10.1164/arrd.1985.132.2.417. [DOI] [PubMed] [Google Scholar]
- Lingappa V. R. Intracellular traffic of newly synthesized proteins. Current understanding and future prospects. J Clin Invest. 1989 Mar;83(3):739–751. doi: 10.1172/JCI113952. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Loebermann H., Tokuoka R., Deisenhofer J., Huber R. Human alpha 1-proteinase inhibitor. Crystal structure analysis of two crystal modifications, molecular model and preliminary analysis of the implications for function. J Mol Biol. 1984 Aug 15;177(3):531–557. [PubMed] [Google Scholar]
- Long G. L., Chandra T., Woo S. L., Davie E. W., Kurachi K. Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant. Biochemistry. 1984 Oct 9;23(21):4828–4837. doi: 10.1021/bi00316a003. [DOI] [PubMed] [Google Scholar]
- Mornex J. F., Chytil-Weir A., Martinet Y., Courtney M., LeCocq J. P., Crystal R. G. Expression of the alpha-1-antitrypsin gene in mononuclear phagocytes of normal and alpha-1-antitrypsin-deficient individuals. J Clin Invest. 1986 Jun;77(6):1952–1961. doi: 10.1172/JCI112524. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Nukiwa T., Satoh K., Brantly M. L., Ogushi F., Fells G. A., Courtney M., Crystal R. G. Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene. J Biol Chem. 1986 Dec 5;261(34):15989–15994. [PubMed] [Google Scholar]
- Ogushi F., Fells G. A., Hubbard R. C., Straus S. D., Crystal R. G. Z-type alpha 1-antitrypsin is less competent than M1-type alpha 1-antitrypsin as an inhibitor of neutrophil elastase. J Clin Invest. 1987 Nov;80(5):1366–1374. doi: 10.1172/JCI113214. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Okayama H., Curiel D. T., Brantly M. L., Holmes M. D., Crystal R. G. Rapid, nonradioactive detection of mutations in the human genome by allele-specific amplification. J Lab Clin Med. 1989 Aug;114(2):105–113. [PubMed] [Google Scholar]
- Perlmutter D. H., May L. T., Sehgal P. B. Interferon beta 2/interleukin 6 modulates synthesis of alpha 1-antitrypsin in human mononuclear phagocytes and in human hepatoma cells. J Clin Invest. 1989 Jul;84(1):138–144. doi: 10.1172/JCI114133. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Perlmutter D. H., Schlesinger M. J., Pierce J. A., Punsal P. I., Schwartz A. L. Synthesis of stress proteins is increased in individuals with homozygous PiZZ alpha 1-antitrypsin deficiency and liver disease. J Clin Invest. 1989 Nov;84(5):1555–1561. doi: 10.1172/JCI114332. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Sharp H. L., Bridges R. A., Krivit W., Freier E. F. Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder. J Lab Clin Med. 1969 Jun;73(6):934–939. [PubMed] [Google Scholar]
- Sifers R. N., Hardick C. P., Woo S. L. Disruption of the 290-342 salt bridge is not responsible for the secretory defect of the PiZ alpha 1-antitrypsin variant. J Biol Chem. 1989 Feb 15;264(5):2997–3001. [PubMed] [Google Scholar]
- Smith R. M., Traber L. D., Traber D. L., Spragg R. G. Pulmonary deposition and clearance of aerosolized alpha-1-proteinase inhibitor administered to dogs and to sheep. J Clin Invest. 1989 Oct;84(4):1145–1154. doi: 10.1172/JCI114278. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Travis J. Structure, function, and control of neutrophil proteinases. Am J Med. 1988 Jun 24;84(6A):37–42. doi: 10.1016/0002-9343(88)90156-8. [DOI] [PubMed] [Google Scholar]
- Wewers M. D., Casolaro M. A., Sellers S. E., Swayze S. C., McPhaul K. M., Wittes J. T., Crystal R. G. Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema. N Engl J Med. 1987 Apr 23;316(17):1055–1062. doi: 10.1056/NEJM198704233161704. [DOI] [PubMed] [Google Scholar]
- Wu M. C., Eriksson S. Lung function, smoking and survival in severe alpha 1-antitrypsin deficiency, PiZZ. J Clin Epidemiol. 1988;41(12):1157–1165. doi: 10.1016/0895-4356(88)90019-4. [DOI] [PubMed] [Google Scholar]