Alpha-1-antitrypsin


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SERPINA1

A gene on chromosome 14q32.1 that encodes a member of the serine protease inhibitor (serpin) family, whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin and plasminogen activator, the latter three of which it irreversibly inhibits. 

Molecular pathology
SERPINA1 mutations cause pulmonary emphysema and liver disease.

Alpha-1-antitrypsin (AAT)

A blood component that breaks down infection-fighting enzymes such as elastase.
References in periodicals archive ?
De Serres, "Efficacy of alpha-1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema," Orphanet Journal of Rare Diseases, vol.
Salinas Medina et al., "In vitro evaluation of a novel mRNA-based therapeutic strategy for the treatment of patients suffering from alpha-1-antitrypsin deficiency," Nucleic Acid Therapeutics, vol.
Worldwide racial and ethnic distribution of alpha-1-antitrypsin deficiency: details of an analysis of published genetic epidemiological surveys.
Alpha-1-antitrypsin deficiency: smoking, decline in lung function and implications for therapeutic trials.
The PAS stain with and without diastase demonstrated intracytoplasmic granules, which is nonspecific but raised the possibility of alpha-1-antitrypsin deficiency.
Alpha-1-antitrypsin is an endogenous inhibitor of proinflammatory cytokine production in whole blood.
Worldwide racial and ethnic distribution of alpha-1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys.
Diagnosis of alpha-1-antitrypsin deficiency: an algorithm of quantification, genotyping, and phenotyping.
Alpha-1-antitrypsin deficiency: biochemistry and clinical manifestations [Review].
Amino acid substitution Glu-Lys in alpha-1-antitrypsin PiZ.
Evaluation of an integrative diagnostic algorithm for the identification of people at risk for alpha-1-antitrypsin deficiency.
Characterization of the intracellular mechanism causing the alpha-1-antitrypsin [Null.sub.granite falls] deficiency state.

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