E. Silverman and R. Sandhaus, -Antitrypsin Deficiency, New England Journal of Medicine, vol.360, issue.26, pp.2749-2757, 2009.
DOI : 10.1056/NEJMcp0900449

URL : https://hal.archives-ouvertes.fr/pasteur-01470265

J. Stoller and L. Aboussouan, ??1-antitrypsin deficiency, The Lancet, vol.365, issue.9478, pp.2225-2236, 2005.
DOI : 10.1016/S0140-6736(05)66781-5

M. Luisetti and N. Seersholm, ??1-Antitrypsin deficiency {middle dot} 1: Epidemiology of ??1-antitrypsin deficiency, Thorax, vol.59, issue.2, pp.164-169, 2004.
DOI : 10.1136/thorax.2003.006494

S. Denden, M. Zorzetto, F. Amri, J. Knani, and S. Ottaviani, Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report, Orphanet Journal of Rare Diseases, vol.4, issue.1, p.12, 2009.
DOI : 10.1186/1750-1172-4-12

I. Ferrarotti, J. Baccheschi, M. Zorzetto, C. Tinelli, and L. Corda, Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency, Journal of Medical Genetics, vol.42, issue.3, pp.282-287, 2005.
DOI : 10.1136/jmg.2004.023903

M. Evans and W. Pryor, Cigarette smoking, emphysema, and damage to alpha 1-proteinase inhibitor, Am J Physiol, vol.266, pp.593-611, 1994.

D. Perlmutter, LIVER INJURY IN ALPHA1-ANTITRYPSIN DEFICIENCY, Clinics in Liver Disease, vol.4, issue.2, pp.1579-1583, 2002.
DOI : 10.1016/S1089-3261(05)70115-X

D. Lomas, D. Evans, J. Finch, and R. Carrell, The mechanism of Z ??1-antitrypsin accumulation in the liver, Nature, vol.357, issue.6379, pp.605-607, 1992.
DOI : 10.1038/357605a0

T. Dafforn, R. Mahadeva, P. Elliott, P. Sivasothy, and D. Lomas, A Kinetic Mechanism for the Polymerization of ??1-Antitrypsin, Journal of Biological Chemistry, vol.274, issue.14, pp.9548-9555, 1999.
DOI : 10.1074/jbc.274.14.9548

B. Gooptu, B. Hazes, W. Chang, T. Dafforn, and R. Carrell, Inactive conformation of the serpin alpha 1-antichymotrypsin indicates two-stage insertion of the reactive loop: Implications for inhibitory function and conformational disease, Proceedings of the National Academy of Sciences, vol.97, issue.1, pp.67-72, 2000.
DOI : 10.1073/pnas.97.1.67

B. Gooptu and D. Lomas, Conformational Pathology of the Serpins: Themes, Variations, and Therapeutic Strategies, Annual Review of Biochemistry, vol.78, issue.1, pp.147-176, 2009.
DOI : 10.1146/annurev.biochem.78.082107.133320

A. Chiou, P. Hagglof, A. Orte, A. Chen, and P. Dunne, Probing Neuroserpin Polymerization and Interaction with Amyloid-?? Peptides Using Single Molecule Fluorescence, Biophysical Journal, vol.97, issue.8, pp.2306-2315, 2009.
DOI : 10.1016/j.bpj.2009.07.057

U. Ekeowa, J. Freeke, E. Miranda, B. Gooptu, and M. Bush, Defining the mechanism of polymerization in the serpinopathies, Proceedings of the National Academy of Sciences, vol.107, issue.40, pp.17146-17151, 2010.
DOI : 10.1073/pnas.1004785107

M. Yamasaki, W. Li, D. Johnson, and J. Huntington, Crystal structure of a stable dimer reveals the molecular basis of serpin polymerization, Nature, vol.276, issue.7217, pp.1255-1258, 2008.
DOI : 10.1038/nature07394

M. Yamasaki, T. Sendall, M. Pearce, J. Whisstock, and J. Huntington, Molecular basis of ??1-antitrypsin deficiency revealed by the structure of a domain-swapped trimer, EMBO reports, vol.268, issue.10, pp.1011-1017, 2011.
DOI : 10.1074/jbc.M102594200

D. Lomas, P. Elliott, S. Sidhar, R. Foreman, and J. Finch, ??1-Antitrypsin Mmalton (Phe52-deleted) Forms Loop-Sheet Polymers in Vivo.: EVIDENCE FOR THE C SHEET MECHANISM OF POLYMERIZATION, Journal of Biological Chemistry, vol.270, issue.28, pp.16864-16870, 1995.
DOI : 10.1074/jbc.270.28.16864

D. Lomas, J. Finch, K. Seyama, T. Nukiwa, and R. Carrell, Alpha 1- antitrypsin Siiyama (Ser53?.Phe). Further evidence for intracellular loop-sheet polymerization, J Biol Chem, vol.268, pp.15333-15335, 1993.

E. Miranda, J. Perez, U. Ekeowa, N. Hadzic, and N. Kalsheker, -antitrypsin deficiency, Hepatology, vol.278, issue.Suppl., pp.1078-1088, 2010.
DOI : 10.1002/hep.23760

URL : https://hal.archives-ouvertes.fr/hal-00159531

D. Medicina, N. Montani, A. Fra, L. Tiberio, and L. Corda, alpha1-antitrypsin allele, Human Mutation, vol.30, issue.8, pp.771-781, 2009.
DOI : 10.1002/humu.21043

R. Mahadeva, W. Chang, T. Dafforn, D. Oakley, and R. Foreman, Heteropolymerization of S, I, and Z ??1-antitrypsin and liver cirrhosis, Journal of Clinical Investigation, vol.103, issue.7, pp.999-1006, 1999.
DOI : 10.1172/JCI4874

M. Gorrini, I. Ferrarotti, A. Lupi, T. Bosoni, and P. Mazzola, Validation of a Rapid, Simple Method to Measure ??1-Antitrypsin in Human Dried Blood Spots, Clinical Chemistry, vol.52, issue.5, pp.899-901, 2006.
DOI : 10.1373/clinchem.2005.062059

I. Ferrarotti, R. Scabini, I. Campo, S. Ottaviani, and M. Zorzetto, Laboratory diagnosis of alpha1-antitrypsin deficiency, Translational Research, vol.150, issue.5, pp.267-274, 2007.
DOI : 10.1016/j.trsl.2007.08.001

I. Ferrarotti, M. Zorzetto, R. Scabini, P. Mazzola, and I. Campo, A Novel Method for Rapid Genotypic Identification of Alpha 1-Antitrypsin Variants, Diagnostic Molecular Pathology, vol.13, issue.3, pp.160-163, 2004.
DOI : 10.1097/01.pdm.0000128700.22128.80

Y. Wu, M. Swulius, K. Moremen, and R. Sifers, Elucidation of the molecular logic by which misfolded ??1-antitrypsin is preferentially selected for degradation, Proceedings of the National Academy of Sciences, vol.100, issue.14, pp.8229-8234, 2003.
DOI : 10.1073/pnas.1430537100

E. Miranda, K. Romisch, and D. Lomas, Mutants of Neuroserpin That Cause Dementia Accumulate as Polymers within the Endoplasmic Reticulum, Journal of Biological Chemistry, vol.279, issue.27, pp.28283-28291, 2004.
DOI : 10.1074/jbc.M313166200

M. Zorzetto, E. Russi, O. Senn, M. Imboden, and I. Ferrarotti, SERPINA1 Gene Variants in Individuals from the General Population with Reduced ??1-Antitrypsin Concentrations, Clinical Chemistry, vol.54, issue.8, pp.1331-1338, 2008.
DOI : 10.1373/clinchem.2007.102798

R. Jardi, F. Rodriguez, M. Miravitlles, R. Vidal, and M. Cotrina, 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, vol.12, p.213, 1998.

W. Poller, F. Merklein, S. Schneider-rasp, A. Haack, and H. Fechner, Molecular characterisation of the defective alpha 1-antitrypsin alleles PI Mwurzburg, Mheerlen (Pro369Leu), and Q0lisbon (Thr68Ile), 1999.

E. Miranda, I. Macleod, M. Davies, J. Perez, and K. Romisch, The intracellular accumulation of polymeric neuroserpin explains the severity of the dementia FENIB, Human Molecular Genetics, vol.17, issue.11, pp.1527-1539, 2008.
DOI : 10.1093/hmg/ddn041

D. Belorgey, J. Irving, U. Ekeowa, J. Freeke, and B. Roussel, Characterisation of serpin polymers in vitro and in vivo, Methods, vol.53, issue.3, pp.255-266, 2011.
DOI : 10.1016/j.ymeth.2010.11.008

G. Silverman, P. Bird, R. Carrell, F. Church, and P. Coughlin, The Serpins Are an Expanding Superfamily of Structurally Similar but Functionally Diverse Proteins: EVOLUTION, MECHANISM OF INHIBITION, NOVEL FUNCTIONS, AND A REVISED NOMENCLATURE, Journal of Biological Chemistry, vol.276, issue.36, pp.33293-33296, 2001.
DOI : 10.1074/jbc.R100016200

R. Law, Q. Zhang, S. Mcgowan, A. Buckle, and G. Silverman, An overview of the serpin superfamily, Genome Biology, vol.7, issue.5, p.216, 2006.
DOI : 10.1186/gb-2006-7-5-216

M. Kim, C. Jung, and H. Im, Characterization and suppression of dysfunctional human ??1-antitrypsin variants, Biochemical and Biophysical Research Communications, vol.343, issue.1, pp.295-302, 2006.
DOI : 10.1016/j.bbrc.2006.02.151

E. Eldering, E. Verpy, D. Roem, T. Meo, and M. Tosi, COOH-terminal Substitutions in the Serpin C1 Inhibitor That Cause Loop Overinsertion and Subsequent Multimerization, Journal of Biological Chemistry, vol.270, issue.6, pp.2579-2587, 1995.
DOI : 10.1074/jbc.270.6.2579

W. Chang, J. Whisstock, P. Hopkins, A. Lesk, and R. Carrell, Importance of the release of strand 1C to the polymerization mechanism of inhibitory serpins, Protein Science, vol.268, issue.1, pp.89-98, 1997.
DOI : 10.1002/pro.5560060110

R. Brodbeck and J. Brown, Study of the roles of proline 391 and a highly conserved sequence in the carboxyl-terminal region of members of the serpin family in the secretion of alpha 1-proteinase inhibitor, J Biol Chem, vol.269, pp.17252-17256, 1994.

P. Elliott, P. Stein, D. Bilton, R. Carrell, and D. Lomas, Structural explanation for the deficiency of S ??1-antitrypsin, Nature Structural Biology, vol.2, issue.11, pp.910-911, 1996.
DOI : 10.1074/jbc.270.15.8393

B. Gooptu, E. Miranda, I. Nobeli, M. Mallya, and A. Purkiss, Crystallographic and Cellular Characterisation of Two Mechanisms Stabilising the Native Fold of ??1-Antitrypsin: Implications for Disease and Drug Design, Journal of Molecular Biology, vol.387, issue.4, pp.857-868, 2009.
DOI : 10.1016/j.jmb.2009.01.069