ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

The V-ATPase is the main regulator of intra-organellar acidification. Assembly of this complex has extensively been studied in yeast, while limited knowledge exists for man. We identified 11 male patients with hemizygous missense mutations in ATP6AP1, encoding accessory protein Ac45 of the V-ATPase....

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Nat Commun
Main Authors: Jansen, Eric J. R., Timal, Sharita, Ryan, Margret, Ashikov, Angel, van Scherpenzeel, Monique, Graham, Laurie A., Mandel, Hanna, Hoischen, Alexander, Iancu, Theodore C., Raymond, Kimiyo, Steenbergen, Gerry, Gilissen, Christian, Huijben, Karin, van Bakel, Nick H. M., Maeda, Yusuke, Rodenburg, Richard J., Adamowicz, Maciej, Crushell, Ellen, Koenen, Hans, Adams, Darius, Vodopiutz, Julia, Greber-Platzer, Susanne, Müller, Thomas, Dueckers, Gregor, Morava, Eva, Sykut-Cegielska, Jolanta, Martens, Gerard J. M., Wevers, Ron A., Niehues, Tim, Huynen, Martijn A., Veltman, Joris A., Stevens, Tom H., Lefeber, Dirk J.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4894975/
https://ncbi.nlm.nih.gov/pubmed/27231034
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms11600
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados