Deficient and Null Variants of SERPINA1 Are Proteotoxic in a Caenorhabditis elegans Model of α1-Antitrypsin Deficiency

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, th...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4626213/
https://ncbi.nlm.nih.gov/pubmed/26512890
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0141542
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