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Structure and variation of human alpha 1-antitrypsin.
The sequence of alpha 1-antitrypsin is in keeping with its role as a tissue scavenger of leukocyte elastase. Two abnormal variants commonly present in Europeans cause a deficiency that predisposes them to a progressive loss of lung elasticity. The nature of the reactive centre helps explain why cigarette smoking greatly accelerates the onset and severity of this degenerative process to give the disease emphysema.
PMID: 7045697 [PubMed - indexed for MEDLINE]
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Cited by 72 PubMed Central articles
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Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency.
Pan S, Huang L, McPherson J, Muzny D, Rouhani F, Brantly M, Gibbs R, Sifers RN.
Hepatology. 2009 Jul; 50(1):275-81.
[Hepatology. 2009]
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ReviewAlpha1-antitrypsin deficiency. 4: Molecular pathophysiology.
Lomas DA, Parfrey H.
Thorax. 2004 Jun; 59(6):529-35.
[Thorax. 2004]
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Retarded protein folding of deficient human alpha 1-antitrypsin D256V and L41P variants.
Jung CH, Na YR, Im H.
Protein Sci. 2004 Mar; 13(3):694-702. Epub 2004 Feb 6.
[Protein Sci. 2004]
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