[1] Greene CM, Marciniak SJ, Teckman J, et al. α1-Antitrypsin deficiency .Nat Rev Dis Primers,2016,2:16051. [2] Brantly ML, Paul LD, Miller BH, et al. Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms. Am Rev Respir Dis. 1988. 138(2): 327-36. [3] Hutsebaut J, Janssens W, Louis R, et al. Activity of the alpha-1 antitrypsin deficiency registry in Belgium. COPD,2015,12 Suppl 1: 10-14. [4] Fromme M, Schneider CV, Trautwein C, et al. Alpha-1 antitrypsin deficiency: A re-surfacing adult liver disorder. J Hepatol,2022,76(4): 946-958. [5] Le A, Ferrell GA, Dishon DS, et al. Soluble aggregates of the human PiZ alpha 1-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. [6] Jarc E, Petan T. Lipid Droplets and the Management of Cellular Stress. Yale J Biol Med,2019,92(3): 435-452. [7] Ruan L, Zhou C, Jin E, et al. Cytosolic proteostasis through importing of misfolded proteins into mitochondria. Nature,2017,543(7645): 443-446. [8] Khodayari N, Wang RL, Oshins R, et al. The Mechanism of Mitochondrial Injury in Alpha-1 Antitrypsin Deficiency Mediated Liver Disease. Int J Mol Sci,2021,22(24). [9] Teckman JH, An JK, Loethen S, et al. Fasting in alpha1-antitrypsin deficient liver: constitutive [correction of consultative] activation of autophagy. Am J Physiol Gastrointest Liver Physiol,2002,283(5): G1156-65. [10] 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. [11] 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. [12] Dérijard B, Hibi M, Wu IH, et al. JNK1: a protein kinase stimulated by UV light and Ha-Ras that binds and phosphorylates the c-Jun activation domain. Cell,1994,76(6): 1025-37. [13] Pastore N, Attanasio S, Granese B, et al. Activation of the c-Jun N-terminal kinase pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin. Hepatology,2017,65(6): 1865-1874. [14] Strnad P, Nuraldeen R, Guldiken N, et al. Broad spectrum of hepatocyte inclusions in humans, animals, and experimental models. Compr Physiol,2013,3(4): 1393-436. [15] Kuscuoglu D, Bewersdorf L, Wenzel K, et al. Dual proteotoxic stress accelerates liver injury via activation of p62-Nrf2. J Pathol,2021,254(1): 80-91. [16] Rudnick DA, Shikapwashya O, Blomenkamp K, et al. Indomethacin increases liver damage in a murine model of liver injury from alpha-1-antitrypsin deficiency. Hepatology,2006,44(4): 976-982. [17] Patel D, Teckman J. Liver disease with unknown etiology - have you ruled out alpha-1 antitrypsin deficiency. Ther Adv Chronic Dis,2021,12_suppl: 2040622321995684. [18] Piccolo P, Ferriero R, Barbato A, et al. Up-regulation of miR-34b/c by JNK and FOXO3 protects from liver fibrosis. Proc Natl Acad Sci U S A,2021,118(10):e2025242118.?. [19] de Serres F, Blanco I. Role of alpha-1 antitrypsin in human health and disease. J Intern Med,2014,276(4): 311-335. [20] Snyder MR, Katzmann JA, Butz ML, et al. Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping. Clin Chem,2006,52(12): 2236-2242. [21] 殷勇, 袁姝华. α1-抗胰蛋白酶缺乏症. 中华实用儿科临床杂志,2018,33(4): 282-285. [22] Belmonte I, Barrecheguren M, Esquinas C, et al. Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples. Clin Chem Lab Med,2017,55(9): 1276-1283. [23] Zamora MR, Ataya A. Lung and liver transplantation in patients with alpha-1 antitrypsin deficiency. Ther Adv Chronic Dis,2021,12_suppl: 20406223211002988. [24] Weng Y, Xiao H, Zhang J, et al. RNAi therapeutic and its innovative biotechnological evolution. Biotechnol Adv,2019,37(5): 801-825. [25] Rahaghi FF. Alpha-1 antitrypsin deficiency research and emerging treatment strategies: what's down the road. Ther Adv Chronic Dis,2021,12_suppl: 20406223211014025. [26] Mukherjee A, Hidvegi T, Araya P, et al. NFκB mitigates the pathological effects of misfolded α1-antitrypsin by activating autophagy and an integrated program of proteostasis mechanisms. Cell Death Differ,2019,26(3): 455-469. [27] Mahadeva R, Dafforn TR, Carrell RW, et al. 6-mer peptide selectively anneals to a pathogenic serpin conformation and blocks polymerization. Implications for the prevention of Z alpha(1)-antitrypsin-related cirrhosis. J Biol Chem,2002,277(9): 6771-6774. [28] Ordó?ez A, Pérez J, Tan L, et al. A single-chain variable fragment intrabody prevents intracellular polymerization of Z α1-antitrypsin while allowing its antiproteinase activity. FASEB J,2015,29(6): 2667-2678. [29] Bjursell M, Porritt MJ, Ericson E, et al. Therapeutic Genome Editing With CRISPR/Cas9 in a Humanized Mouse Model Ameliorates α1-antitrypsin Deficiency Phenotype. EBioMedicine,2018,29: 104-111. |