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

Misfolding, polymerization, and defective secretion of functional alpha-1 antitrypsin underlies the predisposition to severe liver and lung disease in alpha-1 antitrypsin deficiency. We have identified a novel (Ala336Pro, Baghdad) deficiency variant and characterized it relative to the wild-type (M)...

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Vydáno v:Am J Respir Cell Mol Biol
Hlavní autoři: Haq, Imran, Irving, James A., Saleh, Aarash D., Dron, Louis, Regan-Mochrie, Gemma L., Motamedi-Shad, Neda, Hurst, John R., Gooptu, Bibek, Lomas, David A.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Thoracic Society 2016
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Original Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4742932/
https://ncbi.nlm.nih.gov/pubmed/26091018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1165/rcmb.2015-0154OC
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