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

Autor:	Cliff J. Luke, Gary A. Silverman, Mark T. Miedel, Dale E. King, David H. Perlmutter, Linda P. O’Reilly, Erin E. Cummings, Stephen C. Pak, Richard M. Silverman
Rok vydání:	2015
Předmět:	Science Molecular Sequence Data Mutant Biology medicine.disease_cause 03 medical and health sciences 0302 clinical medicine alpha 1-Antitrypsin Deficiency medicine Animals Amino Acid Sequence Allele Caenorhabditis elegans Alleles Serpins 030304 developmental biology Genetics 0303 health sciences Mutation Multidisciplinary Alpha 1-antitrypsin deficiency biology.organism_classification medicine.disease Null allele Molecular biology Phenotype Protein Transport Proteotoxicity 030220 oncology & carcinogenesis Proteolysis Medicine Research Article
Zdroj:	PLoS ONE PLoS ONE, Vol 10, Iss 10, p e0141542 (2015)
ISSN:	1932-6203
DOI:	10.1371/journal.pone.0141542
Popis:	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 (
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bef3e6c79bf2793d0e63c177bf1d7b6 https://doi.org/10.1371/journal.pone.0141542 Zobrazit plný text záznamu