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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Bibliografski detalji
Izdano u:J Exp Med
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: The Rockefeller University Press 2017
Teme:
Research Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5716037/
https://ncbi.nlm.nih.gov/pubmed/29127204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20170453
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