title: Disorders of protein misfolding: alpha-1-antitrypsin deficiency as prototype.
authors.affiliation: Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh and Magee Women's Hospital of University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.
authors.forename: Gary A
authors.initials: GA
authors.lastname: Silverman
authors.forename: Stephen C
authors.initials: SC
authors.lastname: Pak
authors.forename: David H
authors.initials: DH
authors.lastname: Perlmutter
mesh_terms: D000818:Animals; D017173:Caenorhabditis elegans; D004195:Disease Models, Animal; D006801:Humans; D057165:Proteostasis Deficiencies / Q000150:complications / Q000628:therapy; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000628:therapy
keywords: AT; ATD; ATM; ATZ; Alpha-1-antitrypsin; Alpha-1-antitrypsin deficiency; CBZ; COPD; Carbamazepine; Chronic obstructive pulmonary disease; ER; Endoplasmic reticulum; FDA; Federal Drug Administration; Mutant alpha-1-antitrypsin Z; Normal (wild type) alpha-1-antitrypsin; PBA; Phenylbutyric acid; RNA interference; RNAi; SNP; Single nucleotide polymorphism