Ontology highlight
ABSTRACT:
SUBMITTER: Ding J
PROVIDER: S-EPMC3083768 | biostudies-literature | 2011 May
REPOSITORIES: biostudies-literature
Ding Jianqiang J Yannam Govardhana R GR Roy-Chowdhury Namita N Hidvegi Tunda T Basma Hesham H Rennard Stephen I SI Wong Ronald J RJ Avsar Yesim Y Guha Chandan C Perlmutter David H DH Fox Ira J IJ Roy-Chowdhury Jayanta J
The Journal of clinical investigation 20110418 5
α1-Antitrypsin deficiency is an inherited condition that causes liver disease and emphysema. The normal function of this protein, which is synthesized by the liver, is to inhibit neutrophil elastase, a protease that degrades connective tissue of the lung. In the classical form of the disease, inefficient secretion of a mutant α1-antitrypsin protein (AAT-Z) results in its accumulation within hepatocytes and reduced protease inhibitor activity, resulting in liver injury and pulmonary emphysema. Be ...[more]