References
- Nelson DR, Teckman J, Di Bisceglie AM, Brenner DA. Diagnosis and Management of Patients With a(1)-Antitrypsin (A1AT) Deficiency. Clin Gastroenterol Hepatol 2012;10(6):575-80
- Rudnick DA, Liao Y, An JK, et al. Analyses of hepatocellular proliferation in a mouse model of alpha-1-antitrypsin deficiency. Hepatology 2004;39(4):1048-55
- 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
- Eriksson S. Alpha-1-antitrypsin deficiency: natural course and therapeutic strategies. In: Boyer JL, Blum HE, Maier KP, Sauerbruch T, Stalder GA, editors. Falk symposium 115: liver cirrhosis and its development. Kluwer Academic Publishers; Dordrecht, The Netherland: 2001. p. 307-15
- Qu D, Teckman JH, Perlmutter DH. Review: alpha 1-antitrypsin deficiency associated liver disease. J Gastroenterol Hepatol 1997;12(5):404-16
- Lindblad D, Blomenkamp K, Teckman J. Alpha-1-antitrypsin mutant Z protein content in individual hepatocytes correlates with cell death in a mouse model. Hepatology 2007;46(4):1228-35
- Eriksson S. Discovery of alpha 1-antitrypsin deficiency. Lung 1990;168 Suppl:523-9
- Perlmutter DH. Alpha-1-antitrypsin deficiency: diagnosis and treatment. Clin Liver Dis 2004;8(4):839-59
- Sveger T. Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med 1976;294(24):1316-21
- Sveger T. alpha 1-antitrypsin deficiency in early childhood. Pediatrics 1978;62(1):22-5
- Eriksson S. Alpha 1-antitrypsin deficiency. J Hepatol 1999;30(Suppl 1):34-9
- An JK, Blomenkamp K, Lindblad D, Teckman JH. Quantitative isolation of alphalAT mutant Z protein polymers from human and mouse livers and the effect of heat. Hepatology 2005;41(1):160-7
- Sveger T, Eriksson S. The liver in adolescents with alpha 1-antitrypsin deficiency. Hepatology 1995;22(2):514-17
- Cruz PE, Mueller C, Cossette TL, et al. In vivo post-transcriptional gene silencing of alpha-1 antitrypsin by adeno-associated virus vectors expressing siRNA. Lab Invest 2007;87(9):893-902
- Sveger T. The natural history of liver disease in alpha 1-antitrypsin deficient children. Acta Paediatr Scand 1988;77(6):847-51
- Mowat AP. Alpha 1-antitrypsin deficiency (PiZZ): features of liver involvement in childhood. Acta Paediatr Suppl 1994;393:13-17
- Pittschieler K, Massi G. Alpha 1 antitrypsin deficiency in two population groups in north Italy. Padiatr Padol 1988;23(4):307-11
- Eriksson S. A 30-year perspective on alpha 1-antitrypsin deficiency. Chest 1996;110(6 Suppl):237S-42S
- Eriksson S, Lindmark B, Olsson S. Lack of association between hemochromatosis and alpha-antitrypsin deficiency. Acta Med Scand 1986;219(3):291-4
- Pittschieler K. Liver disease and heterozygous alpha-1-antitrypsin deficiency. Acta Paediatr Scand 1991;80(3):323-7
- Kaserbacher R, Propst T, Propst A, et al. Association between heterozygous alpha 1-antitrypsin deficiency and genetic hemochromatosis. Hepatology 1993;18(3):707-8
- Propst T, Propst A, Dietze O, et al. High prevalence of viral infection in adults with homozygous and heterozygous alpha 1-antitrypsin deficiency and chronic liver disease. Ann Intern Med 1992;117(8):641-5
- Lomas DA, Elliott PR, Sidhar SK, et al. Alpha 1-Antitrypsin Mmalton (Phe52-deleted) forms loop-sheet polymers in vivo. Evidence for the C sheet mechanism of polymerization. J Biol Chem 1995;270(28):16864-70
- Lomas DA, Finch JT, Seyama K, et al. Alpha 1-antitrypsin Siiyama (Ser53-->Phe). Further evidence for intracellular loop-sheet polymerization. J Biol Chem 1993;268(21):15333-5
- Mahadeva R, Chang WS, Dafforn TR, et al. Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis. J Clin Invest 1999;103(7):999-1006
- Teckman JH, Perlmutter DH. The endoplasmic reticulum degradation pathway for mutant secretory proteins alpha1-antitrypsin Z and S is distinct from that for an unassembled membrane protein. J Biol Chem 1996;271(22):13215-20
- Lykavieris P, Ducot B, Lachaux A, et al. Liver disease associated with ZZ alpha1-antitrypsin deficiency and ursodeoxycholic acid therapy in children. J Pediatr Gastroenterol Nutr 2008;47(5):623-9
- Piitulainen E, Sveger T. Respiratory symptoms and lung function in young adults with severe alpha(1)-antitrypsin deficiency (PiZZ). Thorax 2002;57(8):705-8
- Sveger T, Thelin T, McNeil TF. Young adults with alpha 1-antitrypsin deficiency identified neonatally: their health, knowledge about and adaptation to the high-risk condition. Acta Paediatr 1997;86(1):37-40
- Rudnick DA, Shikapwashya O, Blomenkamp K, Teckman JH. Indomethacin increases liver damage in a murine model of liver injury from alpha-1-antitrypsin deficiency. Hepatology 2006;44(4):976-82
- Sveger T, Piitulainen E, Arborelius MJr. Lung function in adolescents with alpha 1-antitrypsin deficiency. Acta Paediatr 1994;83(11):1170-3
- Eden E, Hammel J, Rouhani FN, et al. Asthma features in severe alpha1-antitrypsin deficiency: experience of the National Heart, Lung, and Blood Institute Registry. Chest 2003;123(3):765-71
- Hidvegi T, Mirnics K, Hale P, et al. Regulator of G Signaling 16 is a marker for the distinct endoplasmic reticulum stress state associated with aggregated mutant alpha1-antitrypsin Z in the classical form of alpha1-antitrypsin deficiency. J Biol Chem 2007;282(38):27769-80
- James EL, Bottomley SP. The mechanism of alpha 1-antitrypsin polymerization probed by fluorescence spectroscopy. Arch Biochem Biophys 1998;356(2):296-300
- Lomas DA, Evans DL, Finch JT, Carrell RW. The mechanism of Z alpha 1-antitrypsin accumulation in the liver. Nature 1992;357(6379):605-7
- Cabral CM, Choudhury P, Liu Y, Sifers RN. Processing by endoplasmic reticulum mannosidases partitions a secretion-impaired glycoprotein into distinct disposal pathways. J Biol Chem 2000;275(32):25015-22
- Teckman JH, Burrows J, Hidvegi T, et al. The proteasome participates in degradation of mutant alpha 1-antitrypsin Z in the endoplasmic reticulum of hepatoma-derived hepatocytes. J Biol Chem 2001;276(48):44865-72
- Teckman JH, Perlmutter DH. Retention of mutant alpha(1)-antitrypsin Z in endoplasmic reticulum is associated with an autophagic response. Am J Physiol Gastrointest Liver Physiol 2000;279(5):G961-74
- Sifers RN. Cell biology. Protein degradation unlocked. Science 2003;299(5611):1330-1
- Qu D, Teckman JH, Omura S, Perlmutter DH. Degradation of a mutant secretory protein, alpha1-antitrypsin Z, in the endoplasmic reticulum requires proteasome activity. J Biol Chem 1996;271(37):22791-5
- Wu Y, Whitman I, Molmenti E, et al. A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency. Proc Natl Acad Sci USA 1994;91(19):9014-18
- Dafforn TR, Mahadeva R, Elliott PR, et al. A kinetic mechanism for the polymerization of alpha1-antitrypsin. J Biol Chem 1999;274(14):9548-55
- Lomas DA, Mahadeva R. Alpha1-antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy. J Clin Invest 2002;110(11):1585-90
- Wu Y, Swulius MT, Moremen KW, Sifers RN. Elucidation of the molecular logic by which misfolded alpha 1-antitrypsin is preferentially selected for degradation. Proc Natl Acad Sci USA 2003;100(14):8229-34
- Teckman JH, Gilmore R, Perlmutter DH. Role of ubiquitin in proteasomal degradation of mutant alpha(1)-antitrypsin Z in the endoplasmic reticulum. Am J Physiol Gastrointest Liver Physiol 2000;278(1):G39-48
- Cabral CM, Liu Y, Moremen KW, Sifers RN. Organizational diversity among distinct glycoprotein endoplasmic reticulum-associated degradation programs. Mol Biol Cell 2002;13(8):2639-50
- Chappell S, Hadzic N, Stockley R, et al. A polymorphism of the alpha1-antitrypsin gene represents a risk factor for liver disease. Hepatology 2008;47(1):127-32
- Pan S, Huang L, McPherson J, et al. Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency. Hepatology 2009;50(1):275-81
- Hidvegi T, Ewing M, Hale P, et al. An autophagy-enhancing drug promotes degradation of mutant alpha1-antitrypsin Z and reduces hepatic fibrosis. Science 2010;329(5988):229-32
- Kaushal S, Annamali M, Blomenkamp K, et al. Rapamycin reduces intrahepatic alpha-1-antitrypsin mutant Z protein polymers and liver injury in a mouse model. Exp Biol Med (Maywood) 2010;235(6):700-9
- Lawless MW, Greene CM, Mulgrew A, et al. Activation of endoplasmic reticulum-specific stress responses associated with the conformational disease Z alpha 1-antitrypsin deficiency. J Immunol 2004;172(9):5722-6
- Miller SD, Greene CM, McLean C, et al. Tauroursodeoxycholic acid inhibits apoptosis induced by Z alpha-1 antitrypsin via inhibition of Bad. Hepatology 2007;46(2):496-503
- Rudnick DA, Perlmutter DH. Alpha-1-antitrypsin deficiency: a new paradigm for hepatocellular carcinoma in genetic liver disease. Hepatology 2005;42(3):514-21
- Schmidt BZ, Perlmutter DH. Grp78, Grp94, and Grp170 interact with alpha1-antitrypsin mutants that are retained in the endoplasmic reticulum. Am J Physiol Gastrointest Liver Physiol 2005;289(3):G444-55
- Marcus NY, Blomenkamp K, Ahmad M, Teckman JH. Oxidative stress contributes to liver damage in a murine model of alpha-1-antitrypsin deficiency. Exp Biol Med (Maywood) 2012;237(10):1163-72
- Mueller C, Tang Q, Gruntman A, et al. Sustained miRNA-mediated Knockdown of Mutant AAT With Simultaneous Augmentation of Wild-type AAT Has Minimal Effect on Global Liver miRNA Profiles. Mol Ther 2012;20(3):590-600
- Teckman JH. Lack of effect of oral 4-phenylbutyrate on serum alpha-1-antitrypsin in patients with alpha-1-antitrypsin deficiency: a preliminary study. J Pediatr Gastroenterol Nutr 2004;39(1):34-7
- ClinicalTrials.gov. Available from: http://clinicaltrials.gov/show/NCT01379469
- Teckman JH, An JK, Blomenkamp K, et al. Mitochondrial autophagy and injury in the liver in alpha 1-antitrypsin deficiency. Am J Physiol Gastrointest Liver Physiol 2004;286(5):G851-62