ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency

BACKGROUND: The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the frequency of liver disease occurrence in...

Descripción completa

Detalles Bibliográficos
Autores principales: Joly, Philippe, Vignaud, Hélène, Di Martino, Julie, Ruiz, Mathias, Garin, Roman, Restier, Lioara, Belmalih, Abdelouahed, Marchal, Christelle, Cullin, Christophe, Arveiler, Benoit, Fergelot, Patricia, Gitler, Aaron D., Lachaux, Alain, Couthouis, Julien, Bouchecareilh, Marion
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472284/
https://www.ncbi.nlm.nih.gov/pubmed/28617828
http://dx.doi.org/10.1371/journal.pone.0179369

Ejemplares similares

Ejemplares similares