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Items: 1 to 20 of 110

1.

The molecular and cellular pathology of α₁-antitrypsin deficiency.

Gooptu B, Dickens JA, Lomas DA.

Trends Mol Med. 2014 Feb;20(2):116-27. doi: 10.1016/j.molmed.2013.10.007. Epub 2013 Dec 25. Review.

PMID:
24374162
2.

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
3.

Deficiency Mutations of Alpha-1 Antitrypsin. Effects on Folding, Function, and Polymerization.

Haq I, Irving JA, Saleh AD, Dron L, Regan-Mochrie GL, Motamedi-Shad N, Hurst JR, Gooptu B, Lomas DA.

Am J Respir Cell Mol Biol. 2016 Jan;54(1):71-80. doi: 10.1165/rcmb.2015-0154OC.

4.

Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies.

Crowther DC, Belorgey D, Miranda E, Kinghorn KJ, Sharp LK, Lomas DA.

Eur J Hum Genet. 2004 Mar;12(3):167-72. Review.

5.

Therapeutic targeting of misfolding and conformational change in α1-antitrypsin deficiency.

Nyon MP, Gooptu B.

Future Med Chem. 2014 Jun;6(9):1047-65. doi: 10.4155/fmc.14.58. Review.

PMID:
25068987
6.

New Concepts in Alpha-1 Antitrypsin Deficiency Disease Mechanisms.

Marciniak SJ, Ordóñez A, Dickens JA, Chambers JE, Patel V, Dominicus CS, Malzer E.

Ann Am Thorac Soc. 2016 Aug;13 Suppl 4:S289-96. doi: 10.1513/AnnalsATS.201506-358KV. Review.

PMID:
27564663
7.

α(1)-antitrypsin deficiency and inflammation.

Ekeowa UI, Marciniak SJ, Lomas DA.

Expert Rev Clin Immunol. 2011 Mar;7(2):243-52. doi: 10.1586/eci.10.95. Review.

PMID:
21426261
8.

Activation of endoplasmic reticulum-specific stress responses associated with the conformational disease Z alpha 1-antitrypsin deficiency.

Lawless MW, Greene CM, Mulgrew A, Taggart CC, O'Neill SJ, McElvaney NG.

J Immunol. 2004 May 1;172(9):5722-6.

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.

What we owe to alpha(1)-antitrypsin and to Carl-Bertil Laurell.

Carrell RW.

COPD. 2004 Apr;1(1):71-84. Review.

PMID:
16997740
11.

Novel treatment strategies for liver disease due to α1-antitrypsin deficiency.

Maurice N, Perlmutter DH.

Clin Transl Sci. 2012 Jun;5(3):289-94. doi: 10.1111/j.1752-8062.2011.00363.x. Epub 2012 Jan 10. Review.

12.

Molecular basis of α1-antitrypsin deficiency revealed by the structure of a domain-swapped trimer.

Yamasaki M, Sendall TJ, Pearce MC, Whisstock JC, Huntington JA.

EMBO Rep. 2011 Sep 30;12(10):1011-7. doi: 10.1038/embor.2011.171.

13.

Alpha(1)-antitrypsin deficiency, liver disease and emphysema.

Parfrey H, Mahadeva R, Lomas DA.

Int J Biochem Cell Biol. 2003 Jul;35(7):1009-14. Review.

PMID:
12672469
14.

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.

15.

Alpha-1-antitrypsin deficiency: current concepts.

Mulgrew AT, Taggart CC, McElvaney NG.

Lung. 2007 Jul-Aug;185(4):191-201. Epub 2007 Jun 12. Review.

PMID:
17562108
16.

[Alpha-1 antitrypsin deficiency 50 years later].

Mornex JF.

Bull Acad Natl Med. 2014 Apr-May;198(4-5):757-66. Review. French.

PMID:
26753407
17.

Molecular pathogenesis of alpha-1-antitrypsin deficiency-associated liver disease: a meeting review.

Perlmutter DH, Brodsky JL, Balistreri WF, Trapnell BC.

Hepatology. 2007 May;45(5):1313-23. Review.

PMID:
17464974
18.

[Alpha-1-antitrypsin deficiency].

Bouchecareilh M.

Med Sci (Paris). 2014 Oct;30(10):889-95. doi: 10.1051/medsci/20143010016. Epub 2014 Oct 14. Review. French.

19.

Twenty years of polymers: a personal perspective on alpha-1 antitrypsin deficiency.

Lomas DA.

COPD. 2013 Mar;10 Suppl 1:17-25. doi: 10.3109/15412555.2013.764401. Review.

PMID:
23527623
20.

Alpha-1 antitrypsin deficiency: a conformational disease associated with lung and liver manifestations.

Greene CM, Miller SD, Carroll T, McLean C, O'Mahony M, Lawless MW, O'Neill SJ, Taggart CC, McElvaney NG.

J Inherit Metab Dis. 2008 Feb;31(1):21-34. doi: 10.1007/s10545-007-0748-y. Epub 2008 Jan 16. Review.

PMID:
18193338

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