Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

The biogenesis of the multi-subunit vacuolar-type H(+)-ATPase (V-ATPase) is initiated in the endoplasmic reticulum with the assembly of the proton pore V0, which is controlled by a group of assembly factors. Here, we identify two hemizygous missense mutations in the extracellular domain of the acces...

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Detalles Bibliográficos
Autores principales: Rujano, Maria A., Cannata Serio, Magda, Panasyuk, Ganna, Péanne, Romain, Reunert, Janine, Rymen, Daisy, Hauser, Virginie, Park, Julien H., Freisinger, Peter, Souche, Erika, Guida, Maria Clara, Maier, Esther M., Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan J., Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas D., Raskind, Wendy H., Schwake, Michael, Duvet, Sandrine, Foulquier, Francois, Matthijs, Gert, Marquardt, Thorsten, Simons, Matias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2017
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716037/
https://www.ncbi.nlm.nih.gov/pubmed/29127204
http://dx.doi.org/10.1084/jem.20170453

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716037/
https://www.ncbi.nlm.nih.gov/pubmed/29127204
http://dx.doi.org/10.1084/jem.20170453

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