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...

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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

Internet

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

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