Article
Deficient and Null Variants of SERPINA1 Are Proteotoxic in a Caenorhabditis elegans Model of α1-Antitrypsin Deficiency.
PloS one - 1 Jan 2015
Cummings Erin E, O'Reilly Linda P, King Dale E, Silverman Richard M, Miedel Mark T, Luke Cliff J, Perlmutter David H, Silverman Gary A, Pak Stephen C
Abstract excerpt
α1-antitrypsin deficiency (ATD) predisposes patients to both loss-of-function (emphysema) and gain-of-function (liver cirrhosis) phenotypes depending on the type of mutation. Although the Z mutation (ATZ) is the most prevalent cause of ATD, >120 mutant alleles have been identified. In general, these mutations are classified as deficient (<20% normal plasma levels) or null (<1% normal levels) alleles. The...
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