Alpha-l-antitrypsin

Poirier, A., Campbell-Thompson, M., Tang, Q., Scott-Jorgensen, M., Combee, L., Loiler, S., Crawford, J., Song, S. and Flotte, T. R. (2004). Toxicology and biodistribution studies of a recombinant adeno-associated virus 2-alpha-l antitrypsin vector. Preclinica 2, 43-51. 

Song, S., Morgan, M., Ellis, T., Poirier, A., Chesnut, K., Wang, J., Brantly, M., Muzyczka, N., Byrne, B. J., Atkinson, M. and Flotte, T. R. (1998). Sustained secretion of human alpha-l-antitrypsin from murine muscle transduced with adeno-associated virus vectors. Proc. Natl. Acad. Sci. USA 95, 14384-14388. 

Another common mechanism of correction is ER glucosidase inhibition (Fig. 1, star 2), which prevents the recognition of misfolded proteins by calnexin and calreticulin and presumably allows them to escape the ERQC. Inhibition of glucosidase with castanospermine and miglustat were shown to correct the trafficking of deltaE508 CFTR and alpha-l-antitrypsin (51, 61). Whether this mechanism also works on other ER-retained mutants remains to be determined. 

Liihr, H.F., Schlaak, J.F., Dienes, H.R, Lorenz, J., Meyer zum Biischen-felde, K.-H., Gerken, G. Liver cirrhosis associated with heterozygous alpha-l-antitrypsin deficiency type PiMS and autoimmune features. Digestion 1995 56 41-45... 

Lomas, D.A., Mahadeva, R. Alpha(l)-antitrypsin polymerization and the serpinopathies pathobiology and prospects for therapy (review). J. Clin. Invest. 2002 110 1585-1590... 

Mowat, A.R Alpha-l-antitrypsin deficiency (PiZZ) features of liver involvement in childhood. Acta Paediatr. 1994 393 (Suppl.) 13-17... 

Prachalias, A.A., Kalife, M., Francavilla, R., Muiesan, R, Dhawan, A., Baker, A., Hadzic, D., Mieli-Vergani, G., Rela, M., Heaton, N.D. Liver transplantation for alpha-l-antitrypsin deficiency in children. Transplant. Internal. 2000 13 207—MO... 

Propst, T., Propst, A., Dietze, O., Judmaier, G., Braunsteiner, H., Vogel, W. Prevalence of hepatocellular carcinoma in alpha-l-antitrypsin deficiency. J. Hepatol. 1994 21 1006-1011... 

Yoon, D., Kueppers, F., Genta, R.M., Klintmalm, G.B., Khaoustov, VJ., Yoffe, B. Role of alpha-1-antichymotrypsin deficiency in promoting cirrhosis in two siblings with heterozygous alpha-l-antitrypsin deficiency phenotype SZ (case report). Gut 2002 50 730—732... 

Whitehouse DB, Lovegrove JU, Hopkinson DA. Variation in alpha-l-antitrypsin phenotypes associated with penicillamine therapy. Clin Chim Acta 1989 179(1) 109-15. 

Byth BC, Billingsley GD, Cox DW. Physical and genetic mapping of the serpin gene cluster at 14q32.1 AUeUc association and a unique haplotype associated with alpha-l antitrypsin deficiency. Am J Hum Genet 1994 55 126-33. 

Scott CF, CarreH RW, Glaser CB, Kueppers F, Lewis JH, CoLman RW. Alpha-l-antitrypsin Pittsburgh a potent inhibitor of human plasma factor XIa, kaUrkrein, and factor Xllf. J CUn Invest I986 77 631-4. 

Propst T, Propst A, Dietze O, Judmaier G, Braun-steiner H, Vogel W. Alpha-l-antitrypsin deficiency and liver disease. Dig Dis 1994 12 139-49. 

The granular cell tumor (GCT) is an uncommon tumor of Schwann cell origin with a predilection for skin and mucosal surfaces, especially the tongue. Most are benign, but a few are malignant. The tumor is positive for S-100 protein, neuron specific enolase, alpha-l-antitrypsin, CD 68, vimentin, inhibin-alpha, protein gene product... 

Alpha-l-antitrypsin (aj-AT) deficiency disease is associated with PAS-positive, diastase-resistant globules in the hepatocytes (Fig. 15.28A). Immunohistochemical staining for aj-AT may be useful in verifying the nature of these granules (Fig. 15.28B). In addition, early in aj-AT deficiency, these globules may not be as visible and immunohistochemistry may be useful in highlighting aj-AT (Fig. 15.28B). The aj-AT stain may be positive as early as 19 weeks gestation. ... 

Terashima, M., et al., Utilization of an alternative carbon source for efficient production of human alpha(l)-antitrypsin by genetically engineered rice cell culture. Biotechnol Prog, 2001 17(3) 403-406. 

Terashima M, Ejiri Y, Hashikawa N, Yoshida H (1999) Effect of osmotic pressure on human alpha(l)-antitrypsin production by plant cell culture. Biochem Eng J 4 31-36. 

Terashima M, Murai Y, Kawamura M, Naka-nishi S, Stoltz T, Chen L, Drohan W, Rodriguez RL, Katoh S (1999) Production of functional human alpha(l)-antitrypsin by plant cell... 

Although the vast majority of cases of emphysema do not have alpha-l-antitrypsin deficiency, it is possible that an overwhelming local concentration of proteases may be beyond the body s capability to counter with anti-proteases. There is evidence that elastases are important in this process. 

AGP. Sigma-Aldrich, Switzerland) and alpha-l-antitrypsin from human plasma (AlAT. Sigma-Aldrich, Switzerland). 

Absorption Growth velocity Stool fat, stool protein, stool carbohydrate, stool alpha-l-antitrypsin, stool pH, balance studies, blood levels of specific nutrients... 

Secretory Metabolism of macronutrients Growth velocity Measure specific hormones, stool chymotrypsin, elastase, alpha-l-antitrypsin... 

Protein Growth velocity, serum liver enzyme levels, liver size by examination Urine and serum amino acid levels, serum glucose serum proteins (e.g., albumin, prealbumin, clotting factors, alpha-l-antitrypsin, transferrin), serum liver enzyme levels, liver size by examination and ultrasound... 

Thomas DW, Sinatra FR, Merritt RJ. 1981. Random fecal alpha-l-antitrypsin concentration in children with gastrointestinal disease. Gastroenterology 80 776-782. 

Mashiba S, Wada Y, Takeya M, et al. In vivo complex formation of oxidized alpha( l)-antitrypsin and LDL. ArteriosclerThromb Vase Biol2001 21 1801-1808. 

Beckman G, Beckman L, Bjelle A, et al. Alpha-l-antitrypsin types and rheumatoid arthritis. Clin Genet 1984 25(6) 496-499. 

Observational studies In a multicenter, observational retrospective review of 127 patients (80 male, mean age 51.7years) who had undergone at least ISmonths of treatment with alpha-l-antitrypsin therapy (Trypsone or Pro-lastin ), there were four serious adverse events that occurred during the treatment period one massive pulmonary thromboembolism, one myeloid leukaemia, one acute myocardial infarction and one haemorrhagic infarcHon but were judged not to be related to treatment. Seven of 11 nonserious adverse events were considered related to treatment including mild to moderate cutaneous symptoms (facial erythema, oedema/pruritus, rash), chills, fever and anxiety [31 ]. 

Barros-Tizon JC, Torres ML, Blanco 1, Martinez MT. Investigators of the r EXAsg. Reduction of severe exacerbations and hospitalization-derived costs in alpha-l-antitrypsin-deficient patients treated with alpha-l-antitrypsin augmentation therapy. Ther Adv Respir EHs April 2012 6(2) 67-78. 

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