Alpha-1-antitrypsin deficiency: Genetic variations, clinical manifestations and therapeutic interventions.

doi:10.1016/j.mrrev.2017.03.001

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Article

Alpha-1-antitrypsin deficiency: Genetic variations, clinical manifestations and therapeutic interventions.

Mutation research. Reviews in mutation research - 1 Jul 2017

Hazari Younis Mohammad, Bashir Arif, Habib Mudasir, Bashir Samirul, Habib Huma, Qasim M Abul, Shah Naveed Nazir, Haq Ehtishamul, Teckman Jeffrey, Fazili Khalid Majid

Abstract excerpt

Alpha-1-antitrypsin (AAT) is an acute phase secretory glycoprotein that inhibits neutrophil proteases like elastase and is considered as the archetype of a family of structurally related serine-protease inhibitors termed serpins. Serum AAT predominantly originates from liver and increases three to five fold during host response to tissue injury and inflammation. The AAT deficiency is unique among the...

Topics

Animals
Disease Models, Animal
Humans
Liver
Liver Diseases
Lung
Polymorphism, Single Nucleotide
Protein Conformation
Pulmonary Disease, Chronic Obstructive
Pulmonary Emphysema
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

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Identifiers

PMID: 28927525
DOI: 10.1016/j.mrrev.2017.03.001

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