title: [Alpha-1 antitrypsin deficiency 50 years later].
abstract: Alpha-1 antitrypsin deficiency is a frequent genetic disorder associated with pulmonary emphysema in smokers and with liver cirrhosis. Aside from lung or liver transplantation, only replacement therapy can currently slow the progression of emphysema. Progress in the pathogenesis of this disorder (protein misfolding, RER aggregation) is opening the way to new strategies such as proteostasis control. Alpha-1 antitrypsin deficiency remains poorly known and underdiagnosed.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Mornex
mesh_terms: D000483:Alleles; D018450:Disease Progression; D020022:Genetic Predisposition to Disease; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology; D017510:Protein Folding; D011656:Pulmonary Emphysema / Q000209:etiology; D015843:Serpins / Q000737:chemistry / Q000502:physiology; D000515:alpha 1-Antitrypsin / Q000737:chemistry / Q000235:genetics / Q000627:therapeutic use; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics
chemical_list: D015843:Serpins; D000515:alpha 1-Antitrypsin