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Items: 1 to 20 of 86

1.

Disorders of protein misfolding: alpha-1-antitrypsin deficiency as prototype.

Silverman GA, Pak SC, Perlmutter DH.

J Pediatr. 2013 Aug;163(2):320-6. doi: 10.1016/j.jpeds.2013.03.077. Epub 2013 May 8. No abstract available.

2.

A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover.

Long OS, Benson JA, Kwak JH, Luke CJ, Gosai SJ, O'Reilly LP, Wang Y, Li J, Vetica AC, Miedel MT, Stolz DB, Watkins SC, Züchner S, Perlmutter DH, Silverman GA, Pak SC.

Hum Mol Genet. 2014 Oct 1;23(19):5109-22. doi: 10.1093/hmg/ddu235. Epub 2014 May 16.

3.

A genome-wide RNAi screen identifies potential drug targets in a C. elegans model of α1-antitrypsin deficiency.

O'Reilly LP, Long OS, Cobanoglu MC, Benson JA, Luke CJ, Miedel MT, Hale P, Perlmutter DH, Bahar I, Silverman GA, Pak SC.

Hum Mol Genet. 2014 Oct 1;23(19):5123-32. doi: 10.1093/hmg/ddu236. Epub 2014 May 16.

4.

Fluphenazine reduces proteotoxicity in C. elegans and mammalian models of alpha-1-antitrypsin deficiency.

Li J, Pak SC, O'Reilly LP, Benson JA, Wang Y, Hidvegi T, Hale P, Dippold C, Ewing M, Silverman GA, Perlmutter DH.

PLoS One. 2014 Jan 31;9(1):e87260. doi: 10.1371/journal.pone.0087260. eCollection 2014.

5.

[Alpha-1 antitrypsin deficiency: A model of alteration of protein homeostasis or proteostasis].

Vignaud H, Cullin C, Bouchecareilh M.

Rev Mal Respir. 2015 Dec;32(10):1059-71. doi: 10.1016/j.rmr.2015.05.013. Epub 2015 Sep 19. Review. French.

PMID:
26386628
6.

Hepatic fibrosis and carcinogenesis in α1-antitrypsin deficiency: a prototype for chronic tissue damage in gain-of-function disorders.

Perlmutter DH, Silverman GA.

Cold Spring Harb Perspect Biol. 2011 Mar 1;3(3). pii: a005801. doi: 10.1101/cshperspect.a005801. Review.

8.

Mysteries of α1-antitrypsin deficiency: emerging therapeutic strategies for a challenging disease.

Ghouse R, Chu A, Wang Y, Perlmutter DH.

Dis Model Mech. 2014 Apr;7(4):411-9. doi: 10.1242/dmm.014092. Review.

9.

Targeting intracellular degradation pathways for treatment of liver disease caused by α1-antitrypsin deficiency.

Wang Y, Perlmutter DH.

Pediatr Res. 2014 Jan;75(1-2):133-9. doi: 10.1038/pr.2013.190. Epub 2013 Nov 13. Review.

10.

Induced pluripotent stem cells model personalized variations in liver disease resulting from α1-antitrypsin deficiency.

Tafaleng EN, Chakraborty S, Han B, Hale P, Wu W, Soto-Gutierrez A, Feghali-Bostwick CA, Wilson AA, Kotton DN, Nagaya M, Strom SC, Roy-Chowdhury J, Stolz DB, Perlmutter DH, Fox IJ.

Hepatology. 2015 Jul;62(1):147-57. doi: 10.1002/hep.27753. Epub 2015 Apr 13.

11.

α1-antitrypsin deficiency and the hepatocytes - an elegans solution to drug discovery.

O'Reilly LP, Perlmutter DH, Silverman GA, Pak SC.

Int J Biochem Cell Biol. 2014 Feb;47:109-12. doi: 10.1016/j.biocel.2013.12.006. Epub 2013 Dec 17. Review.

12.

An autophagy-enhancing drug promotes degradation of mutant alpha1-antitrypsin Z and reduces hepatic fibrosis.

Hidvegi T, Ewing M, Hale P, Dippold C, Beckett C, Kemp C, Maurice N, Mukherjee A, Goldbach C, Watkins S, Michalopoulos G, Perlmutter DH.

Science. 2010 Jul 9;329(5988):229-32. doi: 10.1126/science.1190354. Epub 2010 Jun 3.

13.

Indomethacin increases liver damage in a murine model of liver injury from alpha-1-antitrypsin deficiency.

Rudnick DA, Shikapwashya O, Blomenkamp K, Teckman JH.

Hepatology. 2006 Oct;44(4):976-82.

PMID:
17006946
14.

Molecular pathogenesis of alpha-1-antitrypsin deficiency.

Duvoix A, Roussel BD, Lomas DA.

Rev Mal Respir. 2014 Dec;31(10):992-1002. doi: 10.1016/j.rmr.2014.03.015. Epub 2014 Nov 20. Review.

PMID:
25442121
15.

Deficient and Null Variants of SERPINA1 Are Proteotoxic in a Caenorhabditis elegans Model of α1-Antitrypsin Deficiency.

Cummings EE, O'Reilly LP, King DE, Silverman RM, Miedel MT, Luke CJ, Perlmutter DH, Silverman GA, Pak SC.

PLoS One. 2015 Oct 29;10(10):e0141542. doi: 10.1371/journal.pone.0141542. eCollection 2015.

16.
17.

Alpha one antitrypsin deficiency: from gene to treatment.

Wood AM, Stockley RA.

Respiration. 2007;74(5):481-92. Review.

18.
19.

Analyses of hepatocellular proliferation in a mouse model of alpha-1-antitrypsin deficiency.

Rudnick DA, Liao Y, An JK, Muglia LJ, Perlmutter DH, Teckman JH.

Hepatology. 2004 Apr;39(4):1048-55.

PMID:
15057909
20.

Alpha-1 antitrypsin deficiency: An underrecognized, treatable cause of COPD.

Stoller JK.

Cleve Clin J Med. 2016 Jul;83(7):507-14. doi: 10.3949/ccjm.83a.16031. Review.

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