| Title: |
Deficient and null variants of SERPINA1 are proteotoxic in a Caenorhabditis elegans model of α1-antitrypsin deficiency |
| Authors: |
Cummings, EE; O'Reilly, LP; King, DE; Silverman, RM; Miedel, MT; Luke, CJ; Perlmutter, DH; Silverman, GA; Pak, SC |
| Publication Year: |
2015 |
| Collection: |
University of Pittsburgh: D-Scholarship@Pitt |
| Description: |
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 ( |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf; text/plain |
| Language: |
English |
| Relation: |
https://d-scholarship.pitt.edu/28369/1/journal.pone.0141542.PDF; https://d-scholarship.pitt.edu/28369/3/licence.txt; Cummings, EE and O'Reilly, LP and King, DE and Silverman, RM and Miedel, MT and Luke, CJ and Perlmutter, DH and Silverman, GA and Pak, SC (2015) Deficient and null variants of SERPINA1 are proteotoxic in a Caenorhabditis elegans model of α1-antitrypsin deficiency. PLoS ONE, 10 (10). |
| Availability: |
https://d-scholarship.pitt.edu/28369/ |
| Rights: |
attached |
| Accession Number: |
edsbas.56B6F410 |
| Database: |
BASE |